Autosomal Abnormalities - Thalassemia

Estimated time: 2 minutes

Maharashtra State Board: Class 12

Key Points: Thalassemia

Meaning: Thalassemia is an autosomal recessive inherited disorder affecting haemoglobin synthesis.
Cause: It occurs due to the mutation or deletion of genes responsible for the formation of globin chains.
Types: Alpha-thalassemia affects α-globin chains, while beta-thalassemia affects β-globin chains.
Genetic Control: α-globin chains are controlled by HBA1 and HBA2 genes on chromosome 16, while β-globin chains are controlled by the HBB gene on chromosome 11.
Symptoms: It causes anaemia, pale skin, abnormal RBC shape, slow growth, and patients often require repeated blood transfusions.