Congenital Dyserythropoietic Anemia Type II (HEMPAS)の1家系

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タイトル別名
  • A Family of Congenital Dyserythropoietic Anemia Type II (HEMPAS)
  • Congenital Dyserythropoietic Anemia Type 2(HEMPAS)の1家系
  • Congenital Dyserythropoietic Anemia Typ

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抄録

A 53-year-old housewife presented jaundice persistent for at least 2 years. She had cholecystectomy for cholelithiasis at the age of 39 years. On examination the scleara was icteric, and the spleen extended 3 cm below the left costal margin. The blood count showed a Hb of 9.7 g/dl and a reticulocyte count of 4%. There was moderate anisocytosis but no poikilocytosis. The bone marrow was characterized by marked erythroid hyperplasia, numerous multinucleated erythroblasts, and frequent appearance of Gaucher-like cells containing PAS-positive needle-like inclusions. On electron microscopy, ‘double membrane structures’ were detected in the cytoplasm of mature erythroblasts. Granulocytes and platelets were normal numerically and morphologically. Erythrokinetic studies showed definite ineffective erythropoiesis and moderately shortened erythrocyte survival. The patient's erythrocytes were strongly agglutinated by both anti-I and anti-i sera.<br>Family study revealed that her sister, who underwent splenectomy with a diagnosis of hereditary spherocytosis 2 years previously, had the same abnormalities in the bone marrow. Her two brothers were also thought to have CDA type II since they had undergone cholecystectomy for cholelithiasis and had persistent jaundice.

収録刊行物

  • 臨床血液

    臨床血液 23 (12), 1924-1929, 1982

    一般社団法人 日本血液学会

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