Thalassemia syndrome

1. THALASSEMIA
SYNDROME
P CHANIKYA 53

2. DEFINATION
• Thalassemia syndrome is a heterogeneous group
of inherited disorders which result from reduced or
absence of synthesis of one of the globin chains
(either a or ẞ globin chain).

3. CLASSIFICATION
• ClassificationDepending on the defective globin chain
either a or ẞ globin chain.
ẞ thalassemia syndrome
1. ẞ thalassemia Major
2. ẞ thalassemia intermedia
3. ẞ thalassemia minor
a thalassemia syndrome
• Each cell has 4 genes coding for a globin chain,2 on
each chromosome.Severity depends on no of genes
deleted or affected.1,2,3,4

4. α THALASSEMIA SYNDROME
• a-Thalassemia Syndrome in this Deleted
genes may vary from 1 to 4.
1. Silent carrier state develops with
deletion of one a-chain gene.
2. αthalassemia trait: It is due to deletion of
two α-genes.
3. HbH disease: It is due to deletion of
three α-genes.
4. Hb Bart's hydrops fetalis: It develops if
all four genes are absent.

5. B-thalassemia major (Mediterranean or
Cooley’s anemia)
• It is the homozygous form of B-thalassemia characterized
by absent or reduced synthesis of B-chain.
• It is most common in Mediterranean countries and parts of
Africa and Southeast Asia.

6. Clinical
features
Sever Anemia
Retardation of growth
and development
Changes in bone:
Thalassemic (
chipmunk) facies,Hair
on end (crew cut
appearance) in skull x
ray.
Splenomegaly
Hemosiderosis

8. Investigations
• Peripheral smear – microcytic hypochromic
anemia, anisocytosis&poikilocytosis, many
target cells .
• Hb f level is increased.
• There is markedly reduced or absent Hb .
• RDW (Red cell distribution width) is within
normal.

10. MANAGEMENT
• Blood Transfusion (4-6 wks)
• Maintenance of Hb level – folic acid supplement.
• Treatment of iron overload
• Splenectomy(massive splenomegaly)
• Bone marrow transplantation in young

11. THANK YOU