Presented by Sk Sabir Hossain Tutai chandra mandal

1. Beta-Thalassemia
Presented by
members of Group- 8

2. Defination
 Thalassemias are a group of hereditary hemolytic disorders
characterized by impairment/imbalance in the synthesis of globin chain
of Hb.
 Thalassemias is the most common hereditary haemoglobin disorder,
occurring in 4-5 out of 10,000 live births.
 It is most common in people with mediterranean, south asian or African
ancestry.

3. Molecular basis of thalassemias
 Normal adult hemoglobin contains 2 alpha and 2 beta chain.
 Thalassemias are characterized by a detect in the production of Alpha or Beta
globin chains.
 Thalassemias occur due to a variety of molecular defects--
(i) gene deletion or substitution.
(ii) underproduction or instability of mRNA.
(iii) Detect in the initiation of chain synthesis.
(iv) premature chain termination.

4. Classifications of Thalassemias
 It is mainly classified into two categories–
(i) a-thalassemia
(ii) B-thalassemia

5. Beta- Thalassemia
 It is caused due to decreased synthesis or total lack of the
formation of beta-globin chain. However, synthesis of Alpha
globin chain continues to be normal,which ultimately leads
to the formation of a globin tetramer (a4) that precipitate.
This causes premature death of erythrocytes.

6. Classifications of beta- Thalassemia
 It is of two types-
.
(i) beta- Thalassemia minor
(ii) beta- Thalassemia major

7. Beta-Thalassemia minor
 Defects in only one of the two beta-globin gene pairs on chromosome
11.
 This an heterozygous state of beta-globin chain.
 It is also known as beta-thalassemia trait, is usually as asymptomatic.
 In this cases individuals can make some amount of beta-globin from the
affected gene.

8. Beta-Thalassemia minor

9. Beta-thalassemia major
 Defect in both the gene responsible for beta-globin synthesis.
 This an homozygous state of beta-globin chain.
 Infants born with beta-thalassemia major are healthy at birth since beta-globin is
not synthesized during the fetal development. They become severely anemia
and die within 1-2 years.
 Frequentl blood transfusion is required for these children.
 It is also known as cooley’s anemia.

10. Symptoms
 Pale skin
 Fatigue
 Having a poor appetite
 Jundice
 Tachycardia

11. Treatment
 Regular blood transfusion.
 Daily folic acid intake.
 Regular check of heart and liver function.
 Bone marrow transplantation