Type II congenital dyserythropoietic anaemia. Report of two cases

G. Javier, A. Domingo, A. Saenz, J. J. Ortega

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    Abstract

    Type II dyserythropaeietic anaemia, or HEMPAS, is the commonest form within this group of congenital anaemias, 84 reports being recorded by Verwilghen in 1976. In Spain 5 cases have been registered. The main symptoms of this autosomal recessive disease include anaemia, jaundice and biliary lithiasis. Erythroblastic proliferation is present in the bone marrow, multinuclearity being found in over one-third of the mature red cells. The diagnosis can be established by ustractructural study or by serological tests. Two patients with this disease are reported. Both were unrelated children, one of either sex, and aged 2 and 4 yrs. In both the studies were performed after a routine examination disclosed moderate anaemia. The anaemia was normochromic and macrocytic, with high serum iron levels in the two cases, along with slightly high rates of non conjugated bilirrubin, and decreased haptoglobin. Erythrocytic hyperplasia and overt multinuclearity of the most mature forms were presented in the bone marrow. The ultrastructural study showed the nuclear anomalies present in all forms of dyserythropoiesis, and a double membrane which could also be observed in the peripheral red-cells. The serum tests (Ham's test, increased anti-I and anti-i titres) were positive in the two cases. Erythrocyte enzymen were increased to some extent. The clinical coure has been satisfactory in both children, no therapy being applied.
    Original languageEnglish
    Pages (from-to)638-645
    JournalSangre
    Volume26
    Issue number5 A
    Publication statusPublished - 1 Jan 1981

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