生理学-红细胞生理(英文).ppt

* * * * * * * * * * * * * Hereditary Iron Overload“Hemochromatosis” Heterogeneous group of inherited disorders representing mutations of genes which control iron absorption and storage Iron accumulates in liver, heart, pancreas, joints, gonads; clinical manifestations seen earlier in men Treated with phlebotomy to remove iron-rich RBCs Mutations: HFE (most common), TfR2, hemojuvelin, hepcidin and ferroportin genes Hemoglobin switch Taken from C.Shanmuganathan and D. Kamat. Pediatric Annals 2013;42:12:502-508 Hgb A = α 2 β 2 Hgb F = α 2 γ 2 Hgb A2= α 2 δ 2 HemoglobinStructure-Function rel