Bulletin of Latin American Research, Vol. 35, No. 2, pp.

165177, 2016

Genetics and Racial Difference in

Contemporary Brazil:
Haemoglobinopathies, Whiteness
and Admixture in Biomedical
Literature
ELENA CALVO-GONZLEZ
Federal University of Bahia, Brazil

The historical role of biomedicine in shaping and legitimising ideas of

race in Brazil has long been documented. Much less discussed, however,
is how contemporary biomedicine helps recreate notions of race. In this
article I explore some of the uses of race, and particularly whiteness, in
current biomedical research, using as a case study articles published on
the prevalence of haemoglobinopathies, including sickle cell anaemia and
-Thalassaemia. One can only properly understand how race features in
these texts by pointing to the links between ideas about admixture and
purity, existing historical discourses about difference and Nation and new
genetic knowledge.

Keywords: biomedicine, Brazil, genetics, haemoglobinopathies, race,

whiteness.

Race has long been, in one way or another, a contentious issue in Brazil. From
nineteenth-century debates on whether the desired whitened condition for the Nations
future could be accomplished (Skidmore, 1976), to a shift in perspective in the 1930s
that made miscegenation, understood both culturally and physically, a key character-
istic of Brazils national identity (Freyre, 1933), or contemporary debates on racial
inequalities and public policy-making, the issue of the racial characteristics of the
Brazilian population has remained central to Brazilian academic and intellectual circles,
as well as in everyday life (Costa, 2002). Biomedicine, particularly in its articulation
with eugenics, genetics and, more recently, population genomics, has historically fea-
tured prominently in these debates (Stepan, 1991; de Souza and Santos, 2014; Wade
et al., 2014). An example of this visibility is the contemporary work of Sergio Danilo
Pena. Probably the most well-known contemporary Brazilian population geneticist,
Penas popularity is in part due to his academic research on the origins of genomic
ancestry markers found within the Brazilian population. His popularity also, however,
owes itself to a high-profile media presence related to his explicit stance against racial
affirmative action policy, as well as his participation in high-visibility projects such as

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and 350 Main Street, Malden, MA 02148, USA. 165
 Elena Calvo-Gonzlez

a BBC-sponsored analysis of the genomic ancestry of several black Brazilian celebrities

(Pena et al., 2000; Pena and Bortolini, 2004; Pena, 2005). His studies underline the high
degree of genetic admixture of Brazils population, the higher presence of matrilineal
African and indigenous ancestral markers and the extent of the disconnection between
an individuals ancestral genomic profile and their external appearance. Some critics
have accused him of confirming, through genetic language, the Freyrean image of Brazil
as a racial democracy that values both cultural and biological admixture, an image
subsequently exploited by sectors opposed to the implementation of racial affirmative
action in Brazil (Santos and Maio, 2004).
Although Penas position, which emphasises Brazilian genetic admixture as the main
characteristic of the countrys population, is shared by other geneticists, this view is
not the only one found among his Brazilian colleagues. Other authors emphasise the
existence within Brazil of demographic groups with markedly less admixed genomic
profiles. Some of these geneticists argue in favour of the existence of different Brazilian
macro-regions within Brazils population: they present the South as having a higher level
of European ancestry, the North as having a predominantly indigenous ancestry and the
Northeast as having a higher African ancestral presence. Meanwhile, the Southeast is
presented as having the most balanced ancestry in terms of composition by these three
main ancestral groups. Yet other geneticists have emphasised the existence within these
macro-regions of micro-regional communities of relative genetic homogeneity (Kent
et al., 2014).
Another key question that featured in recent public debates on race in Brazil has
been the statistical difference in health outcomes and health access for pardo (brown)
and preto (black) Brazilian populations. This issue was taken up by activists from the
so-called Black Population Health field (Oliveira, 2003), and by the Brazilian state itself
in the context of affirmative action discussions to argue for a need to establish spe-
cific health policies for these population groups (Brasil, Secretaria de Polticas de Sade,
2001). The arguments mobilised in these discussions mirrored those found in other coun-
tries (Travassos and Williams, 2004), with an emphasis on the existence of social factors
that contributed to worsened health outcomes among black people, as well as presenting
certain conditions as genetically associated with the black population (Oliveira, 2003).
Such an emphasis, according to some critics, promotes the idea of the existence of a
biologically black body (Fry, 2005; Maio and Monteiro, 2005).
The effects of the use of a category such as race in the field of biomedical genetics
has long been a concern for professionals from these fields and the humanities alike
(Fujimura et al., 2008), who have debated if the use of racial categories can contribute
to solidifying established notions of difference not based on scientific criteria (Duster,
2003), whether its absence would impact negatively on the effective implementation
of diagnosis and treatment of health conditions prevalent among minorities (Aldhous,
2002; Burchard et al., 2003) or if genetic research into such conditions can actually hin-
der more than help for example due to its lack of focus on the social factors that lead
to the higher prevalence of certain conditions amongst these populations (Cooper et al.,
2003). The ways in which biomedical and genetics research have maintained, revived
or shifted their use of race and correlate categories to signify racial difference has been
the focus of recent analysis on topics such as the use of these categories within genomics
and pharmaceutical laboratories (Fullwiley, 2007; Wade et al., 2014), the continuity and
resurgence of racial categories within medical research (Gissis, 2008) and the everyday
use of racial categories in clinical encounters between medical professionals and patients
(Pena, 2005).
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 Genetics and Racial Difference in Contemporary Brazil

Even when there is no uniformity of specific racial terms used for each group or
these terms overlap with those used in the literature of other countries (Kabad et al.,
2012), it is the use of these categories as matter-of-fact realities that contributes to the
naturalisation of this association. In the case of countries such as Brazil, where there is a
long history of describing its population as miscegenated even within the field of genetics
(de Souza and Santos, 2014), those authors who oppose the use of racial categories in
biomedical research by emphasising the admixed nature of its population nevertheless
still use racial terms, in what Santos and colleagues (Santos et al., 2014) have termed a
process of racialising to de-racialise.
In this article, I focus on this intersection between genetics and biomedicine to
explore how race features in Brazilian medical literature about haemoglobinopathies.
I chose to include in my analysis papers that deal not only with the prevalence
of Haemoglobin S (responsible for causing in its homozygotic form sickle cell
anaemia) and Haemoglobin C, traditionally associated with African ancestry and
blackness, but also -Thalassemia, a condition often used as a proxy for whiteness.
This haemoglobinopathy, a result of a hereditary genetic mutation of the - chains
affecting the production of standard haemoglobin, is commonly hypothesised, in the
more common -Thalassemia form, as having a Mediterranean origin, although other
non-Mediterranean origin -Thalassaemia subtypes have been gradually identified
(Wong et al., 1986; Zahed, 2001). Commonly studied in Brazil alongside the prevalence
of other haemoglobinopathies, they are bundled together as a public health problem of
particular interest for Brazil. By looking at how scientists from the field of genetics and
haematology talk about the presence of these conditions in Brazil and their intersection
with race, I aim to show how ideas of race in general, and of whiteness in particular,
are produced out of a combination of historical discourses regarding the nature of
Brazil as a Nation and its internal regional differences, ideas about social inequality and
specialised genetic knowledge.
My intention is not to analyse exhaustively and comparatively the contemporary
Brazilian production on haemoglobinopathies so as to map the degree to which it uses
racial categories, but rather to explore some of the key ways in which race features in
this field. Geneticists themselves conducted some of the work I chose to analyse, or in
other cases the research teams had the participation of geneticists. Some of the research
engaged explicitly with the wider community of geneticists in Brazil and abroad, for
example by thanking established geneticists in the acknowledgements or by publishing
English-language papers. I chose to focus on haemoglobinopathies in general given
that, although the association between sickle cell and blackness in Brazilian medical
literature has been analysed by several social scientists and historians of science,
the same has not happened with regard to the association between -Thalassemia
and race.
With regard to sickle cell disease, anthropologist Peter Fry has explored how the
condition was presented as a racial disease by Black Population Health activists and lit-
erature from the Ministry of Health alike, exploring the ways in which such associations
could contribute to the naturalisation of the idea of the existence of a black body (Fry,
2005). Josu Laguardia takes a similar position (Laguardia, 2006), while also point-
ing out the ethical implications that racialising sickle cell disease might have for public
health researchers and medical practitioners. Juliana Cavalcanti, in turn, analysed in her
masters dissertation (Cavalcanti, 2007) the historical process through which sickle cell
disease was presented as a racial disease in Brazil, an issue she also explored in an article
co-authored with Cavalcanti and Maio (2011).
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 Elena Calvo-Gonzlez

Another reason why I chose to focus on haemoglobinopathies is that due to their

being the most prevalent genetic disease found within Brazil, genetic testing for variant
haemoglobins is part of the state-funded neonatal screening programme. This pro-
gramme aimed to cover 100 percent of Brazilian newborns by 2014 (Ramalho et al.,
2002; Backes et al., 2005). As a result of the application of these tests, medical knowl-
edge of these conditions acquires a wider circulation. More patients undergo these tests,
more families get the correct diagnosis and ensuing genetic counselling and more doctors
receive training on how to treat these genetic diseases. With the help of all these factors,
as well as some awareness-raising campaigns led by the States Ministry of Health or
by patients associations, there is in general greater public knowledge regarding these
genetic conditions. In this process, knowledge produced from within haematology
ends up circulating beyond the realm of researchers from this subfield of biomedicine,
trickling down, so to speak, to other groups such as patients (Calvo-Gonzlez and
Rocha, 2010). Even though neonatal testing for haemoglobinopathies has still not
achieved in practice the intended universal coverage, it is being implemented at a faster
rate within the Brazilian territory than testing for other genetic diseases also associated
with race such as cystic fibrosis, a condition associated with whiteness by some
geneticists (Wailoo and Pemberton, 2008). While haemoglobinopathies are part of the
second phase of the state-led testing programme (alongside congenital hypothyroidism
and phenylketonuria, which were the first genetic conditions to be included), cystic
fibrosis is part of the third phase. Therefore, it has yet to reach the same number of
individuals, receive the same publicity or attain the same number of neonatal diagnoses
as testing for haemoglobinopathies.

On Haemoglobinopathies, Race and Biological Truths

Although not all published medical articles on the topic of haemoglobinopathies
involve notions of race, this term, alongside ideas of population difference or ethnic
composition, is a recurrent feature in many articles that discuss the prevalence of these
conditions, whether at national, regional or local levels. In the set of articles that I
analysed, we can chronologically classify older articles from the 1980s as tending to
focus on the prevalence of -thalassemia and other haemoglobinopathies in distinct
racial groups. Studies such as those of Freitas and Rocha (1983), for example, only
analyse a sample of 704 Caucasians, from the southernmost state of Rio Grande
do Sul, who were being health-screened in the process of being hired as civil servants
or were voluntary blood donors. The screening undertaken by the authors was to
determine the frequency of -Thalassemia in that sample, given the high frequency of
-Thalassemia amongst Italians and their presence in the ethnic composition of Rio
Grande do Sul (Freitas and Rocha, 1983: 185). The results of the sample pointed
to a frequency of 1.1 percent -Thalassemia heterozygotic carriers, with 62 percent
of those individuals being of Italian origin and the others having Syrian, Spanish,
or Lebanese ancestry (Freitas and Rocha, 1983: 187). Two interesting points are
found for my argument in this study. The first has to do with the historical inclusion
of populations of Middle Eastern descent in the white population, which, from the
matter-of-fact way in which the results are presented, seems a non-controversial issue
for the authors and, presumably, readers alike (Lesser, 1999). The second point has
to do with the use of the term caucasian and the criteria used by the authors to
include a given individual in the sample. The use of this term, uncommon in Brazil
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 Genetics and Racial Difference in Contemporary Brazil

even in official forms, could be part of the authors strategy to engage with a wider
international audience (Kabad et al., 2012). In terms of criteria for inclusion within the
study, although the authors mention that they collected data on name, address, and
age, as well as information on parents origin and nationality of the closest ancestors
(Freitas and Rocha, 1983: 186), they do not mention if it was the participants who clas-
sified themselves as caucasian (or any correlate term that signifies whiteness), or whether
it was they themselves who did this. If it was the latter, it is not clear then whether they
based inclusion on an assessment of appearance alone or on ancestry as well, with indi-
viduals with a known non-European ancestor excluded from the sample. This lack of
specificity about what characterises an individual as caucasian, be it appearance and/or
full European ancestry, is particularly telling considering the widespread characterisa-
tion, in genetics research and common sense alike, of Brazils Southern population as
homogeneously white and ancestrally European (Kent et al., 2014). It seems that for the
authors, what is entailed by being caucasian was somehow self-evident. In a sense, this
is part of a wider trend in which racial categories not only whiteness are considered
natural both in biomedical texts and everyday life alike. When this naturalness is put
in question, it is not uncommon to raise the issue of purity, an issue that seems to be
particularly present when dealing with ideas surrounding whiteness (Fullwiley, 2007)
and indigenousness. One can find an example of this line of thought in the question from
a related haematological field: the role of ethnicity in successfully matching donor and
recipient in bone marrow transplants, and the alleged underrepresentation of certain
racial groups among registered donors in Brazil. Lus Fernando Bouzas, Director of the
Brazilian National Centre for Bone Marrow Transplants, associated with the National
Institute for Cancer Research of the Brazilian Department of Health, argued that when
people self-declare their race, they do so believing thats what they are (Gandra, 2014).
This leads to a situation that Bouzas calls attention to in which:

[ ]quando se busca o dado gentico, verifica-se que muitos dos que se

dizem brancos no o so, ou que os que se declaram ndios nem sempre
so indgenas puros, por causa da miscigenao da populao brasileira.
(Gandra, 2014)
([ ]when you look at the genetic data, you can verify that a lot of
those that self-declare as whites actually arent, or those who self-declare as
indigenous arent always pure indigenous due to the levels of miscegenation
present in the Brazilian population)

These notions of genetic purity, especially in relation to whiteness, are particu-

larly interesting for our discussion of the studies of general prevalence of variant
haemoglobins, either in specific population groups and/or specific regions of the coun-
try. These articles analyse samples that range from a group of blood donors, pregnant
women, newborns, schoolchildren or patients with mild anaemia of unascertained ori-
gin. There are several issues deserving attention regarding how race and purity feature
in these articles. First is the way in which the question of purity versus admixture is
explicitly mentioned in these works or dealt with obliquely through other topics, such
as referring to the nature of Brazils population, implicitly invoking ideas of misce-
genation. The second is how the question of admixture is related to the use of the racial
categories employed in these studies; the third is how these ideas about Brazils popula-
tion are related to the ways in which the Nation is (re)imagined in this whole process.
A good starting point to exemplify how these three issues are interlinked is the article
A complexidade da mistura racial no Brasil: a Hemoglobina S como marcador tnico

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 Elena Calvo-Gonzlez

nas suas populaes (The complexity of racial admixture in Brazil Haemoglobin S as an

ethnic marker of its populations) (Ramalho et al., 2006). In this work the authors, from
the field of medical genetics, aim to contribute to the debates surrounding ethnic classifi-
cation and the correct use of the terms Negro, Negroid or Afro-descendant to nominate
the 45 percent of the Brazilian population constituted by individuals who self-declare
as black and brown. Ramalho and his co-authors argue that afro-descendant would
not be a correct term to nominate self-declared blacks and browns, given that the term
could include some individuals of African ancestry whose appearance nevertheless does
not show that ancestry. The correct term to describe self-declared pretos (blacks) and
pardos (browns) would be negroide, a term explained by the authors as the conjunction
of negro (black) with the suffix oid = similar to.
Leaving aside the polemic surrounding the conflation of pretos and pardos into the
single category negro (black) (Fry, 2000; Carvalho, 2004), or whether genetics could
actually provide the answer to whether a political category (afro-descendant) is correct,
several questions raised in this article are interesting for my argument. The study
analysed a sample of 817 randomly chosen Haemoglobin S carriers from the city of
Campinas, in the state of So Paulo, southeast of Brazil. Of the sample, only 53 percent
of the individuals had African ancestry shown by phenotype, investigated by the authors
of the research via the use of objective criteria (color of the skin, facial characteristics,
and type of hair (Ramalho et al., 2006: 69). Ancestry was also assessed by analysing the
frequency of ABO alleles. This reference to objective criteria to consider certain physical
features as marking African origin, which are often used as a proxy for blackness, will
not be new to anyone familiar with the history of scientific racism and the legacy it
left in many fields (Gould, 1996). What is more relevant to my analysis, though, is the
way in which ideas about ancestry and appearance are used in the article. In spite of
arguing that the process of considerable miscegenation and internal migrations has dis-
sociated the presence of Haemoglobin S from the skin colour of its carriers, the authors
(Ramalho et al., 2006: 70) nonetheless claim that it still remains a valuable ethnic
marker. What do the authors mean when they use the term ethnic? This term is
often used as a synonym for race, both in Brazil and in other countries (in some cases
condensed into a single term: ethnic-racial; Sankar and Cho, 2002). This seems to be the
use made by Ramalho and co-authors when they describe black people and mulattoes
as an ethnic category. This group is presented as constituting circa 45 percent of Brazils
population, citing census data of racial self-description. As social scientists have long
discussed (Nogueira, [1955] 2007), blackness in Brazil is not solely determined by
ancestry, when compared to other countries such as the United States. Instead, the
presence of physical traits commonly associated with African ancestry, such as skin
colour, tightly curled hair or a wide nose, are what leads a person to classify herself
and/or be classified by others as black. These physical marks of ancestry are what
Ramalho and his co-authors refer to as an individuals appearance evidencing African
ancestry. What would be at stake, then, when they argue that Haemoglobin S can
indeed be a useful ethnic marker, in spite of its dissociation from appearance? It would
seem that this time they are using ethnic markers to indicate African ancestry, even
when such ancestry is not, as the authors argue, evident in a persons appearance. The
authors also invoke some sort of regional difference when they mention that:

36 por cento dos indivduos que compuseram essa amostra diagnosticada

em Campinas eram geneticamente nordestinos (os quatro avs nascidos no
Nordeste, sobretudo na Bahia). (Ramalho et al., 2006: 70)

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(36 percent of the individuals that made up the sample diagnosed in Camp-
inas are genetically Northeasterners [the four grandparents born in the
Northeast, particularly in Bahia]).

At first glance, this sentence does not seem to provide any useful information for the
study. Individuals were classified in terms of external appearance and ABO alleles fre-
quencies, and all of them were carriers of haemoglobin S. Nonetheless, it makes more
sense if we look back to the late nineteenth and early twentieth century and remember
how certain intellectuals of the period who called for the promotion of European immi-
gration with the aim of achieving Brazils envisioned, whitened future strongly advocated
against new arrivals resettling in Southern and Southeastern Brazil. Silvio Romero went
as far as suggesting that measures be taken to redirect these immigrants towards regions
of the country in which their presence was scarce, such as the Northeast (Romero, 1902).
I can only wonder if it was this image of the region as identified with admixture that
led the authors to provide their readers with the information regarding the Northeastern
ancestry of 36 percent of the sample, given that no attention is given to the ancestry of the
rest of the sample, and furthermore with Haemoglobin S being explicitly described by the
authors as being predominantly from African descendants. Thus, while the presence of
haemoglobin S is in general associated with miscegenation, the presence of genetically
Northeastern individuals in the sample implicitly points toward internal migrations con-
tributing to the spread of Haemoglobin S within Brazil. This could also be a way to
explain the cases of those individuals within the sample who did not have physical traits
associated with African ancestry, indicative of a distant history of population admixture.
This argument is similar to the one that 1930s US physicians invoked when confronted
with certain patients of Cuban origin whose African ancestry was also not easily identi-
fiable in their appearance (Tapper, 1999). What seems clear to me is that a discussion of
an individual evidencing ancestry can help mobilise long-established ideas about race,
even when not dealing with them explicitly or even intentionally (Wade, 2010).
This is also the case when ideas of race implicitly mobilise notions of class, an issue
we can see in the work of Compri et al. (1996). The authors, among whom we find
Ramalho, analyse the prevalence of haemoglobinopathies amongst pupils enrolled at
two schools, as well as among pregnant women treated both in the public and private
healthcare systems of the city of Bragana Paulista, in the state of So Paulo. Remark-
ing on the higher prevalence of -Thalassemia among schoolchildren attending schools
identified with a higher income bracket and pregnant women attending private prac-
tices, and the higher prevalence of haemoglobin S and C amongst schoolchildren of a
lower income bracket and pregnant women attending public health centres, the authors
conclude that the results show a higher proportion of [ ] negrides na subamostra de
menor nvel socioeconmico e quanto maior participao de caucasides descendentes
de italianos na subamostra de maior nvel socioeconomic (Negroids in the sub-sample
of lower socioeconomic status and the higher presence of Caucasoids with Italian ances-
try in the higher economic sub-sample) (Compri et al., 1996: 193). Given that there is
no previous mention in the research that data on race, colour or ancestry, whether of the
students or of the pregnant women, was actually collected, the reader is left to wonder
how this was ascertained. Was that data indeed gathered, or did the researchers simply
infer it from socioeconomic status and the presence of variant haemoglobins in these two
groups? I tend to think the second hypothesis more plausible, particularly considering
that the authors, after comparing the prevalence of haemoglobin S and C carriers among
students and pregnant women and attesting that its presence was higher among the latter,

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concluded that a amostra de gestantes provavelmente tem um contingente de negrides

maior do que o verificado na amostra dos estudantes (the sample of pregnant women
probably included a higher number of negroids than the sample of students) (Compri
et al., 1996: 194). It is the use of the word probably that leads me to think that no data
was actually collected on race/colour, and that notions of class and race were conflated
in their argument by way of a naturalised association between the two. This conflation
between race and class means that, in spite of not knowing the actual physical appear-
ance of students or pregnant women, the authors inferred that there were more negroids
among the latter due to the higher rates of African-origin variant haemoglobins. In this
case, the possibility of there being different degrees of whiteness is simply not consid-
ered. Rather, the authors associate whiteness with a higher income and Italian ancestry,
which, as I have already argued, seems not to be self-reported, but rather inferred by
the authors through the higher presence of -Thalassemia. Similar arguments regard-
ing race and class can be found in Adorno et al. (2005), where the authors analyse the
prevalence of variant haemoglobins in newborns in the city of Salvador using data col-
lected in a public maternity ward. In spite of the researchers themselves having classified
17 percent of newborns in the studied sample as white (through observation of facial
characteristics, mammillae and scrotum; Adorno et al., 2005: 293), the authors men-
tion in the article that the maternity ward serves the majority of low-income women
in Salvador, who are almost exclusively blacks or mulattos (Adorno et al., 2005: 296).
It would have been interesting for this statement to have been accompanied by a refer-
ence to statistical data on income and race in Salvador, and a possible explanation for
the presence of a relatively substantial percentage of white babies within their sample.
Strikingly, the reference cited to support this sentence is actually a study by geneticist
Eliane Azevedo (1980), in which she argues for the need to sub-classify the intermediary
mulatto group into three further internal categories (light, medium and dark) so as to
avoid what she sees as excessive heterogeneity in genetic studies of admixed populations.
To do so, she compares a variety of published data, among which are the racial rates
of Haemoglobin S and C prevalence amongst Bahian schoolchildren and the different
frequency of surnames of religious origin, which would indicate a higher probability
of having a slave ancestor. According to Azevedo, the classification of individuals into
each of these mulatto subgroups (and into the white and black categories), using the
very same criteria subsequently applied by Adorno and colleagues in their study, would
closely match the genetic data of each of these categories, confirming the usefulness of
subjective racial classification.
The relation between surnames, external appearance and ancestry is also raised in
Naoums article Anemias Imigrantes (Immigrant anemias) (1984). In this text, the preva-
lence of variant haemoglobins in the state of So Paulo is thought to be related to patterns
of colonisation of this region. Data on the prevalence of variant haemoglobins is anal-
ysed and classified according to skin colour, within a bipolar system of classification
(negroid/caucasoid) and according to peoples surnames. With regards to surnames, a
higher prevalence of -Thalassaemia is found among those with a surname of Italian
origin, when compared to those having an Iberian or a religious surname. In the case of
variant haemoglobins of African origin, there is a tendency for Haemoglobin C carriers
to have Iberian surnames, with Haemoglobin S having equal chance of carrying a reli-
gious, Iberian or Italian surname. This leads the author to hypothesise that slaves that
carried Haemoglobin C tended to adopt, after abolition, the surnames of their masters or,
later, intermarry with Iberian caucasoids. The mechanism that led to this phenomenon,
however, is not explored. The results on skin colour, on the other hand, showed a higher
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 Genetics and Racial Difference in Contemporary Brazil

frequency of Haemoglobin S and C amongst the negroid sample. Both Haemoglobin

S and C are actually more prevalent amongst caucasoids than -Thalassemia, which
leads the author to point out the expressive prevalence of haemoglobins characteristic
of African peoples among this group explained by the author in terms of admixture
between Africans and Europeans, particularly during the early period of colonisation.
On the other hand, the fact that only Haemoglobin S and Haemoglobin C variant
haemoglobins were found among negroids of seven cities in the state of So Paulo is
interpreted by the author as an indicator that in those localities the black population
mixed very little with the white population. I double-checked the figures to see if, in
those seven cities, the caucasoid group only had variant haemoglobins identified as hav-
ing a European origin. This wasnt the case: Haemoglobins S and C were both present
with a higher frequency than -Thalassaemia amongst caucasoids of these cities. This
presents us with a curious argument whereby admixture is taken as a characteristic of
the white group, even when such a process of mixing is located in the distant past.
Although this notion of whiteness as not necessarily implying ancestral purity matches
the arguments of social scientists in the 1950s (Nogueira, [1955] 2007; Pierson, 1971)
and recent population geneticists (Pena et al., 2000), the idea of a commensurate black-
ness that does not show any European ancestry goes against those same anthropological
and population genetics studies (Santos et al., 2009).
The emphasis on the degree of admixture in Brazils population can, therefore, be
placed on certain groups rather than others, or be applied in general to the whole popu-
lation. We find this latter approach in the work of Leoneli et al. (2000), who regard the
prevalence of variant haemoglobinopathies as proof of the extent of racial admixture in
Brazil, without considering any specific population.
The expectations around a given population become even more acute when the mea-
sured rates of prevalence of variant haemoglobins do not match local histories. This is the
case in the study of variant haemoglobins detected in neonatal testing in the state of Santa
Catarina, undertaken by Backes et al. (2005). Although the overall rate of Haemoglobin
S is lower than the national average, the researchers note that, contrary to what the lit-
erature presents, in the state of Santa Catarina there are more white babies diagnosed
with Haemoglobin S than black ones. The regions within this state in which there is a
higher prevalence of Haemoglobin S do not match those with a larger black population.
Facing these results, the researchers consider several hypotheses, among which is that the
criteria used to classify ethnicities, as the authors term them, by health clinics in charge
of collecting the material for neonatal testing were seen as deficient. They might have
filled in the forms incorrectly or incompletely, with all children having been registered by
mistake as white. Another possibility raised is that parents could have actually classified
their children as being white due to prejudice people had about their own colour. What
these arguments have in common is the questioning of these babies as truly white, and
the presence of a variant haemoglobin of African ancestry raising suspicions as to their
whiteness. Lastly, there is the mention of colonisation being predominantly European
in the South of Brazil, although it is not clear how this helps to explain the fact that
more white than black babies were being diagnosed as Haemoglobin S carriers in the
state. The article ends with a call to abolish the inclusion of colour in the neonatal
testing programme forms, perhaps because the authors consider that those in charge of
answering the questions and/or filling in the forms cannot be trusted to do so satisfacto-
rily. There is also a call to include testing for thalassaemias in the program, given their
high prevalence in the South and Southeast of Brazil.
2015 The Author. Bulletin of Latin American Research 2015 Society for Latin American Studies
Bulletin of Latin American Research Vol. 35, No. 2 173
 Elena Calvo-Gonzlez

Conclusion
As I have shown in this article, Brazilian medical literature that focuses on the prevalence
of variant haemoglobin raises several questions about how race is presented and its link
to genetic ancestry, appearance and the countrys history. We can point to two main
trends in the papers analysed: an emphasis on the admixture of Brazils population and
the relation between ancestry, appearance, and racial classification, invoking in some
of the articles notions of racial purity, even if these exact terms are not used explicitly.
Regarding admixture, this idea can be located at a national level, as describing Brazils
population as a whole (Leoneli et al., 2000); as being characteristic of certain regions,
such as the Northeast (Ramalho et al., 2006); or even at the individual level, with
some individuals being considered as more or less miscegenated. At the same time,
the idea that certain ancestries imply certain appearances is present in several of these
articles. An example of this approach is the identification by Ramalho et al. (2006) of
individuals who do not evidence their African ancestry; Backes analysis regarding the
inadequate classification of Haemoglobin S newborns of Santa Catarina as whites; or
the analysis of Compri et al. (1996), who bring in assumptions about ancestry, class and
inequality, describing Haemoglobin S carriers as black due to their lower socioeconomic
position, in spite of the authors not collecting data on race. In both Backes and Compris
articles there is an underlying notion of whiteness as associated with certain regions
and social classes. Naoums article (Naoum, 1984) is an exception, in that it raises
the possibility of a whiteness with admixed ancestry, pointing to the existence of a
blackness that is nevertheless less mixed when compared to the white population of
a given city. What seems clear is that, in general, these authors make use of data that
goes beyond the realm of haematology or population genetics, including knowledge
from other academic areas such as history and anthropology, as well as common-sense
narratives and ideas about the countrys population, history and society (Kent and
Santos, 2012).
As the techniques that diagnose variant haemoglobin become progressively more
available throughout the country through a federally-funded, nationwide neonatal test-
ing programme, medical discourses about the examined conditions will become increas-
ingly popularised, contributing to (re)framing, questioning and/or confirming notions
about mixture blackness and whiteness and race in general in Brazil. At the same time,
the space opened up by genetics and biomedicine within recent debates on the imple-
mentation of affirmative action policies reminds us of a long tradition of these areas
contributing to the design of wider projects for the Nation (Castro Santos, 1980, 1985;
Chalhoub, 1995). At this juncture, there is a crucial need for closer examination not
only of how notions of race are used in the field of biomedicine through analysis
such as that I undertook in this article so as to expose how researchers from within
these fields use explicit and unconscious constructions of race as phenomena deemed
to belong to the natural or biological world, but also of the possible effects that these
ideas might have on the wider circulation of ideas about race, undertaking anthropo-
logical research among family members of newborns diagnosed with these conditions
(Calvo-Gonzlez and Rocha, 2010), patients associations and other support groups
(Arajo, 2010), as well as examining journals and other mass-media channels (Diniz
and Guedes, 2006). In this manner, we can gain a more rounded picture of the ways
in which genetic, biomedical and everyday knowledge intertwines and (re)signifies the
meanings of race in contemporary Brazil.
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174 Bulletin of Latin American Research Vol. 35, No. 2
 Genetics and Racial Difference in Contemporary Brazil

References
Adorno, E. V., et al. (2005) Hemoglobinopatias em recm-nascidos de Salvador, Bahia,
Nordeste do Brasil. Cadernos de Sade Pblica 21(1): 292298.
Aldhous, P. (2002) Geneticist Fears Race-neutral Studies will Fail Ethnic Groups. Nature
418: 355356.
Arajo, R. S. (2010) Organizao e politizao do movimento de sade dos portadores fal-
cmicos na Grande So Paulo, Brasil. Srie Anis, Letras Livres, 1-9.
Azevedo, E. S. (1980) Subgroup Studies of Black Admixture within a Mixed Population of
Bahia, Brazil. Annals of Human Genetics 44(1): 5560.
Backes, C. E., et al. (2005) Triagem neonatal como um problema de sade pblica. Revista
Brasileira de Hematologia e Hemoterapia 27(1): 4347.
Brasil, Secretaria de Polticas de Sade (2001) Manual de doenas mais importantes, por
razes tnicas, na populao brasileira afro-descendente. Ministrio da Sade : Braslia.
Burchard, E. G., et al. (2003) The Importance of Race and Ethnic Background in Biomedical
Research and Clinical Practice. New England Journal of Medicine 348(12): 11701175.
Calvo-Gonzlez, E. and Rocha, V. (2010) Est no sangue: a articulao de ideias sobre raa,
aparncia e ancestralidade entre famlias de portadores de doena falciforme em Sal-
vador, Bahia. Revista de Antropologia 53(1): 276320.
Carvalho, J. M. (2004) Genocdio racial estatstico. O Globo, 27 December, 7.
Castro Santos, L. A. D. (1980) Estado e sade pblica no Brasil (18891930). Dados-Revista
de Cincias Sociais 23(2): 237250.
Castro Santos, L. A. D. (1985) O pensamento sanitarista na Primeira Repblica: uma ide-
ologia de construo da nacionalidade. Dados 28(2): 193210.
Cavalcanti, J. M. (2007) Doena, sangue e raa: o caso da anemia falciforme no Brasil,
19301940. Unpublished doctoral dissertation, Casa de Oswaldo Cruz-FIOCRUZ, Rio
de Janeiro.
Cavalcanti, J. M. and Maio, M. C. (2011) Entre negros e miscigenados: a anemia eo trao
falciforme no Brasil nas dcadas de 1930 e 1940. Histria, Cincias, Sade-Manguinhos
18(2): 377406.
Chalhoub, S. (1995) Febre amarela e ideologia racial no Rio de Janeiro do sculo XIX.
Estudos Afro-Asiticos 27: 87110.
Compri, M. B., Polimeno, N. C., Stella, M. B. and Ramalho, A. S. (1996) Programa comu-
nitrio de hemoglobinopatias hereditrias em populao estudantil brasileira. Revista
de Sade Pblica 30(2): 187195.
Cooper, R. S., Kaufman, J. S. and Ward, R. (2003) Race and Genomics. New England
Journal of Medicine 348(12): 11661170.
Costa, S. (2002) A construo sociolgica da raa no Brasil. Estudos Afro-Asiticos 24:
3561.
De Souza, V. S. and Santos, R. V. (2014) The Emergence of Human Population Genetics
and Narratives about the Formation of the Brazilian Nation (19501960). Studies in
History and Philosophy of Science 47 (Pt. A): 97107.
Diniz, D. and Guedes, C. (2006) Informao gentica na mdia impressa: a anemia falciforme
em questo. Cincia e Sade Coletiva 11(4): 10551062.
Duster, T. (2003) Backdoor to Eugenics. Routledge: New York and London.
Freitas, E. M. and Rocha, F. J. D. (1983) Detection of Beta-thalassemia Heterozygotes Among
Caucasians from Porto Alegre, RS, Brazil. Revista Brasileira de Gentica 6(1): 185188.
Freyre, G. (1933) Casa grande e senzala. Jos Olympio: Rio de Janeiro.
Fry, P. H. (2000) Politics, Nationality, and the Meanings of Race in Brazil. Daedalus 129(2):
83118.
Fry, P. H. (2005) O significado da anemia falciforme no contexto dapoltica racial do governo
brasileiro 19952004. Histria Cincias Sade-Manguinhos 12(2): 347370.

2015 The Author. Bulletin of Latin American Research 2015 Society for Latin American Studies
Bulletin of Latin American Research Vol. 35, No. 2 175
 Elena Calvo-Gonzlez

Fujimura, J. H., Duster, T. and Rajagopalan, R. (2008) Introduction: Race, Genetics, and Dis-
ease: Questions of Evidence, Matters of Consequence. Social Studies of Science 38(5):
643656.
Fullwiley, D. (2007) The Molecularization of Race: Institutionalizing Human Difference in
Pharmacogenetics Practice. Science as Culture 16(1): 130.
Gandra, A. (2014) Mdicos divergem sobre participao tnica entre doadores de medula
ssea. [WWW document]. URL http://agenciabrasil.ebc.com.br/geral/noticia/2014-01/
medicos-divergem-sobre-participacao-etnica-entre-doadores-de-medula-ossea [accessed
12 March 2014].
Gissis, S. B. (2008) When is Race a Race? 19462003. Studies in History and Philosophy
of Science 39(4): 437450.
Gould, S. J. (1996) The Mismeasure of Man. WW Norton and Company: New York.
Kabad, J. F., Bastos, J. L. and Santos, R. V. (2012) Raa, cor e etnia em estudos epidemiolgi-
cos sobre populaes brasileiras: reviso sistemtica na base PubMed. Physis 22(3):
895918.
Kent, M. and Santos, R. V. (2012) Os charruas vivem nos Gachos: a vida social de uma
pesquisa de resgate gentico de uma etnia indgena extinta no Sul do Brasil. Horizontes
Antropolgicos 18(37): 341372.
Kent, M., Santos, R. V. and Wade, P. (2014) Negotiating Imagined Genetic Communities:
Unity and Diversity in Brazilian Science and Society. American Anthropologist 116(4):
736748.
Laguardia, J. (2006) No fio da navalha: anemia falciforme, raa e as implicaes no cuidado
sade. Estudos Feministas 14(1): 243262.
Leoneli, G. G., Imperial, R. E., Marchi-Salvador, D. P., Naoum, P. C., et al. (2000)
Hemoglobinas anormais e dificuldade diagnstica. Revista Brasileira de Hematologia
e Hemoterapia 22(3): 396403.
Lesser, J. (1999) Negotiating National Identity: Immigrants, Minorities, and the Struggle for
Ethnicity in Brazil. Duke University Press: Durham and London.
Maio, M. C. and Monteiro, S. (2005) Tempos de racializao: o caso da sade da populao
negra no Brasil. Histria, Cincias, Sade-Manguinhos 12(2): 419446.
Naoum, P. C. (1984) Anemias imigrantes: origem das anemias hereditrias no Brasil. Cincia
News 3(14): 5964.
Nogueira, O. (1955(2007)) Preconceito racial de marca e preconceito racial de origem.
Tempo Social: Revista de Sociologia da USP 19(1): 287308.
Oliveira, F. (2003) Sade da populao negra. Opas: Braslia.
Pena, S. D. J. (2005) Razes para banir o conceito de raa da medicina brasileira. Histria,
Cincia Sade-Manguinhos 12(2): 321346.
Pena, S. D. J. and Bortolini, M. C. (2004) Pode a gentica definir quem deve se beneficiar das
cotas universitrias e demais aes afirmativas?. Estudos Avanados 18(50): 3150.
Pena, S. D. J., et al. (2000) Retrato Molecular do Brasil. Revista Cincia Hoje 159: 1625.
Pierson, D. (1971) Brancos e pretos na Bahia: estudo de contacto racial. Companhia Editora
Nacional: So Paulo.
Ramalho, A. S., Magna, L. A. and Giraldi, T. (2006) A complexidade da mistura racial no
Brasil: a hemoglobina S como marcador tnico nas suas populaes. Revista Brasileira
de Hematologia e Hemoterapia 28(1): 6972.
Ramalho, A. S., Magna, L. A. and Silva, R. B. (2002) A Portaria MS n. 822/01 e a triagem
neonatal das hemoglobinopatias. Revista Brasileira de Hematologia e Hemoterapia
24(4): 244250.
Romero, S. (1902) Historia da litteratura brasileira. H. Garnier: Rio de Janeiro.
Sankar, P. and Cho, M. K. (2002) Toward a New Vocabulary of Human Genetic Variation.
Science 298(5597): 13371338.
Santos, R. V., Da Silva, G. O. and Gibbon, S. (2014) Pharmacogenomics, Human Genetic
Diversity and the Incorporation and Rejection of Color/Race in Brazil. BioSocieties 10:
4869.

2015 The Author. Bulletin of Latin American Research 2015 Society for Latin American Studies
176 Bulletin of Latin American Research Vol. 35, No. 2
 Genetics and Racial Difference in Contemporary Brazil

Santos, R. V., et al. (2009) Color, Race, and Genomic Ancestry in Brazil: Dialogues Between
Anthropology and Genetics. Current Anthropology 50(6): 787819.
Santos, R. V. and Maio, M. C. (2004) Qual retrato do Brasil? Raa, biologia, identidades e
poltica na era da genmica. Mana 10(1): 6195.
Skidmore, T. E. (1976) Preto no branco: raa e nacionalidade no pensamento brasileiro. Paz
e Terra: Rio de Janeiro.
Stepan, N. (1991) The Hour of Eugenics: Race, Gender, and Nation in Latin America. Cornell
University Press: Ithaca.
Tapper, M. (1999) In the Blood: Sickle-cell Anemia and the Politics of Race. University of
Pennsylvania Press: Philadelphia.
Travassos, C. and Williams, D. R. (2004) The Concept and Measurement of Race and their
Relationship to Public Health: a Review Focused on Brazil and the United States. Cader-
nos de Sade Pblica 20(3): 660678.
Wade, P. (2010) The Presence and Absence of Race. Patterns of Prejudice 44(1): 4360.
Wade, P., Beltrn, C. L., Restrepo, E. and Santos, R. V. (2014) Mestizo Genomics: Race
Mixture, Nation, and Science in Latin America. Duke University Press: Durham.
Wailoo, K. and Pemberton, S. (2008) The Troubled Dream of Genetic Medicine: Ethnicity
and Innovation in Tay-Sachs, Cystic Fibrosis, and Sickle Cell Disease. Johns Hopkins
University Press: Baltimore.
Wong, C., et al. (1986) On the Origin and Spread of Beta-thalassemia: Recurrent Observation
of Four Mutations in Different Ethnic Groups. Proceedings of the National Academy
of Sciences 83(17): 65296532.
Zahed, L. (2001) The Spectrum of -thalassemia Mutations in the Arab Populations. Journal
of Biomedicine and Biotechnology 1(3): 129132.

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