Variant congenital dyserythropoietic anaemia with ringed sideroblasts.
A family is described with mild anaemia characterized by marked dyserythropoiesis and by prominent ringed sideroblasts. Inheritance is autosomal recessive. Other features include marked microcytosis, poikilocytosis, mild haemolysis, slightly increased haemoglobin A2, bone marrow erythroid hyperplasia and non-specific structural abnormalities of erythroid precursors on electron microscopy. This appears to be a previously unreported type of hereditary anaemia with both dyserythropoiesis and ringed sideroblasts. We propose the designation 'variant congenital dyserythropoietic anaemia with ringed sideroblasts'.
D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000473:pathology*; D000745:Anemia, Hemolytic, Congenital / Q000473:pathology*; D000756:Anemia, Sideroblastic / Q000235:genetics*; D001853:Bone Marrow / Q000648:ultrastructure; D005260:Female; D006801:Humans; D008297:Male