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Q.Write a note on: Thalassemia.

Odisha ChseOdisha CHSE +2 Science Board Exam 2024Subjective· 3mImportance★★★★★
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Thalassemia is a quantitative haemoglobin disorder - too little of a normal globin chain is made - inherited as an autosomal recessive trait.

Thalassemia is a genetic disorder of haemoglobin synthesis. Unlike sickle-cell anaemia (a qualitative defect where an abnormal haemoglobin is made), thalassemia is a quantitative problem: mutation or deletion of the gene(s) coding for a particular globin chain reduces or completely stops synthesis of that globin chain. Since normal adult haemoglobin (HbA) is made of two alpha and two beta globin chains, thalassemia is classified as alpha-thalassemia (defective/deleted alleles among the four genes coding for the alpha chain) or beta-thalassemia (mutation in the single beta-globin gene on chromosome 11, controlled by a single gene each inherited from each parent). The resulting imbalance in the ratio of alpha to beta chains leads to abnormal haemoglobin formation, destru …

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