Sandström H, Wahlin A, Eriksson M, Bergström I, Wickramasinghe S N
Department of Family Medicine, University Hospital, Umeå, Sweden.
Eur J Haematol. 1994 Jan;52(1):42-6. doi: 10.1111/j.1600-0609.1994.tb01283.x.
A family with congenital dyserythropoietic anaemia type III was studied. Twenty patients and 10 of their healthy siblings were clinically examined and questioned about their medical history. Blood sampling and bone marrow aspirations were also performed. Forty-five percent of the patients reported symptoms of anaemia and 35% regularly felt weakness, fatigue, or headache. However, the majority of the patients regarded themselves as healthy. The bone marrow showed a uniform picture of erythroid hyperplasia with multinuclear erythroblasts and gigantoblasts with up to 12 nuclei. There was laboratory evidence of intravascular haemolysis and mild anaemia. We also observed a high prevalence of monoclonal gammopathy of undetermined significance (3 cases) and myeloma (1 case) among the patients.
对一个患有III型先天性红细胞生成异常性贫血的家族进行了研究。对20名患者及其10名健康的兄弟姐妹进行了临床检查并询问了他们的病史。还进行了血液采样和骨髓穿刺。45%的患者报告有贫血症状，35%的患者经常感到虚弱、疲劳或头痛。然而，大多数患者认为自己是健康的。骨髓显示出红系增生的一致表现，有多核幼红细胞和多达12个核的巨大幼红细胞。有血管内溶血和轻度贫血的实验室证据。我们还观察到患者中意义未明的单克隆丙种球蛋白病（3例）和骨髓瘤（1例）的高患病率。
