Thalassemias
NATIONAL JOURNAL OF HOMOEOPATHY 2001 Jul / Aug VOL III NO 4.
Dr C H Asrani

Thalassemias are hereditary disorders characterized by reduction in the synthesis of the alpha and beta variety of globin chains. Reduced globin chain synthesis causes reduced Hemoglobin synthesis that eventually produces a hypochromic microcytic anemia because of defective haemoglobinisation of red blood cells.

How To Diagnose?

1. Microcytosis out of proportion to the degree of anemia. (Hb 11.5 Gm % and MCV - 65fl)
2. Positive family history
3. Abnormal RBC morphology with target cells, microcytes and acanthocytes
4. In beta thalassemia elevated levels hemoglobin of A2 and F (Hb electrophoresis)

Pathophysiology: Normal adult Hb is primarily Hb A which represents about 98% of circulating Hb. The remaining component comprises of HbA2 and Hb F (Fetal Hb).

Thalassemias are of 2 Types:

1. Alpha thalassemia - seen primarily in S-E Asia and China. These patients may be either essentially normal and with normal life expectancy and performance status and may have a very mild microcytic anemia. The other end of spectrum is a hemoglobin H disease with hemolytic anemia of variably severity. Patient may look pale and may even present with splenomegaly. The different in presentation status is to do with alpha globin genes are present and a detailed discussion is out of purview of this article.
2. Beta Thalassemia - mainly affects Europeans and Greek and to a lesser degree Chinese and other Asians. Amongst Indians, Marwari, Kutchi, Parsi and Sindhi communities. Patients homozygous for thalassemia have the syndrome of Thalassemia Major. Affected children are normal at birth but within first year of life develop severe anemia requiring transfusion. Signs of Thalassemia generally manifest after 6 months of age as this is the time Hb synthesis switches from Hb F to Hb A. Clinical problems that a child may present with are, growth failure, bony deformities, hepatosplenomegaly and jaundice. The clinical course can be favourably altered with repeated blood transfusions but the overload of iron from transfusion (hemosiderosis) may lead to heart failure, cirrhosis and major endocrinopathies.

Prevention: Prenatal diagnosis for couples at risk. Genetic counseling should be offered when both parents are known to be Thal minor.

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