Zdebska E, Woźniewicz B, Adamowicz-Salach A, Kościelak J
Department of Biochemistry, Institute of Haematology and Blood Transfusion, Warsaw, Poland.
Br J Haematol. 2000 Sep;110(4):998-1001. doi: 10.1046/j.1365-2141.2000.02288.x.
Congenital dyserythropoietic anaemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and multinuclearity of erythroblasts. Three main types of the disease have been described. Glycoconjugate abnormalities in erythrocyte membrane glycoconjugates, consisting of hypoglycosylation of band 3 and accumulation of certain glycosphingolipids including lactotriaosylceramide, neolactotriaosylceramide and polyglycosylceramides, have been described only in patients with CDA type II (CDA-II). We report on identical, although less pronounced, abnormalities in erythrocyte glycoconjugates from a patient with CDA-I. A low degree of hypoglycosylation of band 3 in our patient with CDA-I suggests that hypoglycosylation is not a cause, but, most probably, a consequence of dyserythropoiesis.
先天性红细胞生成异常性贫血（CDAs）是一种罕见的遗传性疾病，其特征为红细胞生成无效以及成红细胞多核化。该疾病主要有三种类型。红细胞膜糖缀合物中的糖缀合物异常，包括带3糖基化不足以及某些糖鞘脂（包括乳糖神经酰胺三糖、新乳糖神经酰胺三糖和多糖基神经酰胺）的积累，仅在II型先天性红细胞生成异常性贫血（CDA-II）患者中有所描述。我们报告了1例I型先天性红细胞生成异常性贫血（CDA-I）患者的红细胞糖缀合物存在相同但程度较轻的异常情况。我们的CDA-I患者中带3糖基化不足程度较低，这表明糖基化不足并非红细胞生成异常的原因，而极有可能是其结果。
