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Severe hypochromic microcytic anemia caused by a congenital defect of the iron transport pathway in erythroid cells

2004; Elsevier BV; Volume: 103; Issue: 10 Linguagem: Inglês

10.1182/blood-2004-01-0225

1528-0020

Monika Priwitzerova, Dagmar Pospı́šilová, Josef T. Prchal, Karel Indrák, Alice Hlobílková, Vladimı́r Mihál, Prem Ponka, Vladimír Divoký,

Erythrocyte Function and Pathophysiology

We report a patient, a product of a consanguineous union, with liver hemosiderosis and severe congenital hypochromic microcytic anemia due to defective erythroid iron use. Iron is an essential element indispensable for the synthesis and the function of hemoglobin (Hb) and for normal red blood cell