HbE

HbS
HBD
Hb O Arab
G Pheladelphia






Clinically Significant Hemoglobin Variants
Unfortunately, some hemoglobin variants can have significant effects both clinically and hematologically. The most common
clinically significant structural variants and their original geographical associations are listed in Table 2. However, in
countries such as the United States with a diverse immigrant population, these and many other variants may be seen. This
is why I encourage you to provide a clinical history of thecountry of origin of affected individuals and their family members
on the requisition. This information can be of help in narrowing down the type of structural abnormality when some of the
more unusual variants are detected by the sensitive high-pressure liquid chromatography system that is used to evaluate all
samples submitted to Warde Medical Laboratory.
Table 2. Common Clinically Significant Structural Variants
Hemoglobin Original
Geographic
Association
Amino Acid
Substitution
% Present in
Heterozygotes
S Africa

40%
C Africa

40%
E
Asia

30%
G Philadelphia*
Africa

20, 30, 40% **
D
Los Angeles***
Europe/India

40%
O Arab
Africa

40%
Lepore#
Mediterranian

10-15%

* Other G variants exist which may be or chain.
** HbG Philadelphia is an variant, often associated with deletions of the
nonaffected a genes. With no deletions, there is approximately 20% HbG,
with one deletion about 30% G is present, and with two about 40% is
present.
*** Also known as D Punjab (same mutation)
# Not a mutation, Lepore is the product of the indicated crossover during
meiosis.