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What is A patient with microcytic hypochromic anemia. Hb-9 g%, serum iron-20 microg/dl, ferritin level-800 ng/ml, transferrin percentage saturation is 64%. What is possible diagnosis? and explain in detail?
Ans. (a) Atransferrinemia(Ref: Wintrobe's 12th/pg814)This patient with microcytic hypochromic anemia, has high ferritin level (800ng/ml) & increased transferrin percentage saturation (64%). The most possible diagnosis is Atransferrinemia.AtransferrinemiaIt is a rare congenital autosomal recessive condition with low transferrin level in the body.So whatever transferrin is left, is saturated.It presents with hypochromic microcytic anemia, decreased serum levels of iron, TIBC, and increased serum level of ferritin (as iron absorption is markedly increased but iron transfer to eryrthropoetic tissues are reduced)High transferrin saturation (64% in this case) & high ferritin level, excludes Iron deficiency Anemia (option B excluded)In DMT 1 mutation, transferrin saturation is low (hence option C excluded)High transferrin saturation excludes Anemia of chronic disease (option D)