THALASSEMIA

HEMATO-ONCOLOGY DIVISION
PEDIATRIC DEPARTEMENT
MEDICAL SCHOOL
UNIVERSITY OF NORTH SUMATERA

B. HEMOGLOBINOPATHIES
CLASSIFIED INTO TWO MAJOR GROUPS
1. THALASSEMIAS
Quantitative deficiencies in the production
of globin chains
2. HEMOGLOBINS DISORDER
Structural abnormalities of globin chains
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Classification of the common

thalassemias and related disorders
-Thalassemia
+ o
- Thalassemia
+ Hb Lepore thalassemia
i
()o
(A)o
- Thalassemia
()o

- Thalassemia
-or- Thalassemia associated with -chain variants
Hb S -Thalassemia
Hb E -Thalassemia
many others
-Thalassemia
+ (deletion)
+ (non-deletion)
o
Hereditary persistence of HbF
Deletion
Non-deletion A + G +
Unlike to -globin gene cluster
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3
- Thalassemia
DIAGNOSE :
African, Mediteranian, Middle Eastern,
Chinese, or Southeast Asian ancestry
Microcytic, hypochromic anemia of
variable severity
Hemoglobin Barts detected by neonatal
screening

PATOPHYSIOLOGY

- thalassemias

Table 1. The
USUAL
GENOTYPES

- GENE
NUMBER

CLINICAL
FEATURES

HEMOGLOBIN ELECTROPHORESIS
BIRTH

> 6 MO

NORMAL

NORMAL

NORMAL

- /

SILENT
CARRIER

0 3% Hb Barts

NORMAL

-- / or
- / -

- THAL
TRAIT

2 10% Hb Barts

NORMAL

-- / -

Hb H
DISEASE

15 30% Hb Barts

Hb H PRESENT

-- / --

FETAL
HYDROPS

> 75% Hb Bart,s

Thalassemia _alpha

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Treatment

-thalassemia trait require no treatment

Hb H disease should receive folic acid
avoid the same oxidant drugs
Transfusions may be required
Splenectomy
Genetic counseling and prenatal diagnosis

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-Thalassemia

Essentials of diagnosis & typical features

-thalassemia minor
-mild hypochromic microcytic anemia
Haemoglobi 90-110g/l
Mean cell volume 50-70 fl
mean corpuscular haemoglobin 20-22 pq
- no clinical features, patient asymptomatic
- often diagnosed on routine blood count
- raised Hb A2 level
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-thalassemia major :
severe anemia
Blood film
- pronounced variation in red cell size and shape
- pale (hypochromic) red cells
- target cells
- basophillic stippling
- nucleated red cells
- moderately raised reticulocyte count
infants are well at birth but develop anemia in first
few months of life when switch occurs from to
globin chains
progressive splenomegaly; iron loading; proneness to
infection
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Scrining

Peripheral blood stain

Mean corpuscular volume (MCV) value and
MCH value
Mentzer index
RDW index
Hb-electroforese

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PRENATAL DIAGNOSIS
If mother suffered thalassemia
DNA analysis by CVS (chorion vilus
sampling) at 9-12th week of gestation
PCR rapid detection of mutation

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Thalassemia_beta
17

Thalassemia minor
18

Thalassemia major
19

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thalassemia

Hb elektroforese

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Treatment
red cell transfusion : PRC, neocyte

infective complication
- viral hepatitis
- Yersinia infection
splenectomy
chelation theraphy : desferrioxamine
if serum ferritin 1500 g or got
transfusion 10-20 x
Dose of desferrioxamine :20-40 mg/kgBW
for children
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INSERTION OF
DESFEROXAMINE

23

post splenoktomy
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