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प्रश्न
Give a detail account of thalassemia.
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उत्तर
- Thalassemia is an autosomal, inherited recessive disease.
- A haemoglobin molecule is made of four polypeptide chains- 2 alpha (α) and 2 betas (β) chains.
- The synthesis of alpha chains is controlled by two closely linked genes (HBA1 and HBA2) on chromosome 16 while the synthesis of the beta chain is controlled by a single gene (HBB) on chromosome 11.
- Depending upon which chain of haemoglobin is affected, thalassemia is classified as alpha-thalassemia and beta-thalassemia.
- It is caused due to deletion or mutation of a gene that codes for alpha (α) and beta (β) globin chains that result in the abnormal synthesis of haemoglobin.
- Symptoms: In Thalassemia, the person shows symptoms like anemia, pale yellow skin, change in size and shape of RBCs, slow growth and development, dark urine, etc.
- Massive blood transfusion is needed for these patients.
- Thalassemia differs from sickle-cell anemia. Thalassemia is a quantitative problem of synthesizing few globin molecules, while sickle cell anemia is a qualitative problem of synthesizing an incorrectly functional globin.
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| Column I | Column II | ||
| i. | Thalassemia | a. | X monosomy |
| ii. | Turner’s syndrome | b. | Extra X chromosomes in male |
| iii. | Klinefelter’s syndrome | c. | 21st Trisomy |
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