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SICKLE CELL ANEMIA
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THALASSEMIA
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1. It is an inherited autosomal recessive
disorder in which one or both of the beta- globin subunits in Hb is replaced
with HbS.
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1. It results from the mutation and
absence of either alpha- or beta- or both chains.
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2. It is caused by abnormal Hb- ‘HbS’.
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2. It is caused by low levels of RBCs.
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3. Symptoms: painful swelling of
extremities, strokes, pulmonary hypertension.
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3. Symptoms: Dark urine, yellow or pale
skin, jaundice, bone deformities.
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4. Diagnosis: CBC reveals high
reticulocyte count, Hb electrophoresis, sickle solubility test.
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4. Diagnosis: prenatal testing, physicak
examination (enlarged organ), iron quantitative test.
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5. Treatment: Follic acid, hydroxyurea,
blood transfusion.
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5. Treatment: Bone marrow transplant,
iron chelation, surgery.
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6. Single nucleotide mutation, val is
substituted instead of glutamic acid at 6th position of
beta-globin gene.
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6. Alteration in any beta-globin gene or
either absence or less production of beta-chains.
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Thursday, December 20, 2018
differences between sickle cell anemia and thalasemia
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