[Dyserythropoietic congenital anemia type II with intensive hepatic hemosiderosis in a 1-month-old infant].
A case of dyserythropoietic congenital anemia type II (HEMPAS) in an infant 35 days of age is reported. Diagnosis was based upon morphological features of the erythroblasts, 25% of them were bi or multinucleated and a positive acidified serum test (pseudo HAM). The early and severe anemia which was present from the first days of life is emphasized. An additional and significant hemolytic factor with a relative tocopherol deficiency is suggested. A very important degree of hepatic hemosiderosis was found at necropsy. This finding reveals the very active dyserytropietic disorder in this case from the beginning of intrauterine file.
D000745:Anemia, Hemolytic, Congenital / Q000473:pathology*; D003937:Diagnosis, Differential; D004900:Erythroblasts / Q000473:pathology; D006486:Hemosiderosis / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000473:pathology*; D008099:Liver / Q000473:pathology; D013789:Thalassemia / Q000473:pathology*
Anemia diseritropoyética congénita tipo II con intensa hemosiderosis hepática en un lactante de un mes.