Question:
What is thalassemia?
Author: H KAnswer:
Other major cause of microcytic anemia, imbalance of a and b globin, a deficiency in a (deletion), b defect b chain (mutation), tx blood transfusion. a thalassemia (more in asian, maybe minor (2/4 alleles affected mild microcytic anemia), HbH disease (3/4 affected, cause chronic hemolytic anemia, lead to beta tetramer (HBH) and Bart'sHbG increase in electrophoresis), hydrops fetali (4/4 alleles affected, total body edema fetal, barts Hgb high) Beta thalassemia (more in MENA, required at six months (may be minor (asymptomatic, decreased HbA increased A2 and normal F, tx avoid oxidative stress) or major (anemia at six months, no HbA, increased A2 and F, splenectomy tx, folate supplement, transfusion , may die due to transfusion iron overload) We see decreased Hb and MCV and normal or increased RBC count (Mentzer ratio= MCV/RBC if less than 13-> thalassemia if more iron deficiency or inflammation.
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