Thalassemia

Thalassemia

Thalassemia Q. 1 Defect leading to thalassemia lies in –  A Haemoglobin  B Osmotic fragility  C RBC membrane   D Platelets Q. 1 Defect leading to thalassemia lies in –  A Haemoglobin  B Osmotic fragility  C RBC membrane   D Platelets Ans. A Explanation: Ans. is ‘a’ i.e., Haemoglobin Disorders of hemoglobin o Disorders of hemoglobin may […]

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Thalassemia

Thalassemia THALASSEMIA Thalassemia is an autosomal recessive hereditary disorder. It is caused by mutation that decreases synthesis of α and β- globin chains. There is deficiency of haemoglobin & red blood cells. Seen in Mediterranean countries. Thalassemia is genetically transmitted disorders. α- chain genes are located on chromosome 16. β- chain genes are located on

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Thalassemia

Thalassemia INTRODUCTION: Most common type of hemoglobinopathies. An Autosomal recessive condition. Caused by inherited mutations decreasing synthesis of either α-­globin or β-globin chains of HB. Two α chains in HbA encoded by alpha globin genes on chromosome 16. Two β chains are encoded by β-globin gene on chromosome 11. PATHOGENESIS: Diminished synthesis leads to, Low intracellular hemoglobin (hypochromia). Effects related to relative

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Thalassemia

Thalassemia Q. 1 Which of the following is the most appropriate drug used for chelation therapy in beta thalassemia major?  A Oral desferoxamine  B Oral deferiprone  C Intramuscular EDTA  D Oral Succimerq Q. 1 Which of the following is the most appropriate drug used for chelation therapy in beta thalassemia major?  A Oral desferoxamine  B

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