THALASSEMIA MANAGEMENT
M R Lokeshwar
More..
The

thalassemias

are the most common single gene disorder in the world and represent a major health burden worldwide.

It is a heterogeneous disorder recessively inherited resulting from various mutations of the genes, which code for globin chain of Hb, leading to reduced or absent synthesis of globin chains. When b chain synthesis is affected it is called as b-thalassemia.

It was first described by Cooley and Lee in 1925 and the first case of beta-Thalassemia in India was reported by Dr.Mukherjee from Calcutta in 1938.

Epidemiology
- Over 180 million people in the world and around 20 million in India carry the gene for beta - thalassemia.
- One Lac children are born world over with the homozygous state for Thalassemia, (8,000-10,000 children of whom are born in India).
- The

frequency of Thalassemia trait

is 3-18% in north India to 1-3% or less in the south. A higher frequency noted in certain communities viz. Sindhis, Kutchis, Lohanas, Bhanushalis, Punjabis, Mahars, Agris, Goud Saraswats, Gowdas, etc.

Pathophysiology
- It is characterized by an imbalance in the production of A and B globin polypeptide chains of hemoglobin.
- In alpha -Thalassemia, a chain synthesis is decreased. In beta-thalassemia, beta chain synthesis is decreased. Excessive a chains precipitate in red cell membrane and damage it. It leads to premature red cell destruction both in the bone marrow and peripheral circulation particularly in reticuloendothelial system of spleen (ineffective erythropoiesis and hemolysis).
Synthesis of gamma chain persists after fetal life. Increased fetal hemoglobin (HbF) with its high affinity for oxygen leads to tissue hypoxia, which in turn stimulates erythropoietin secretion leading to both medullary and extramedullary erythropoiesis (expansion of bone marrow space) causing a characteristic hemolytic facies with frontoparietal and occipital bossing, malar prominence and malocclusions of teeth. Complications include distortion of ribs and vertebrae and pathological fracture of the long bones, splenomegaly and its complications (hypersplenism), hepatomegaly, gallstones and chronic leg ulcers.

References

Contributor Information and Disclosures

M R Lokeshwar
Consultant Pediatric Hematologist, Imperial Mahal, Mumbai


First Created : 12/27/2013

References

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