一例与血色素沉着症相关的II型先天性红细胞生成异常性贫血病例。

A case of congenital dyserythropoietic anemia type II associated with hemochromatosis.

作者信息

Tamura H, Matsumoto G, Itakura Y, Terai H, Ikebuchi K, Mitarai T, Isoda K

机构信息

Fourth Department of Internal Medicine, Saitama Medical School, Kawagoe, Japan.

出版信息

Intern Med. 1992 Mar;31(3):380-4. doi: 10.2169/internalmedicine.31.380.

DOI:10.2169/internalmedicine.31.380

PMID:1611191

Abstract

A 54-year-old woman with anemia, diabetes mellitus and liver dysfunction was admitted to our hospital. Numerous binucleated erythroblasts in the bone marrow, a positive serum acidified test, and the presence of anti I and anti i antigens on the surface of her erythrocytes indicated that she had congenital dyserythropoietic anemia (CDA) Type II. Hemochromatosis was confirmed by a liver biopsy. This case is a sibling of a patient with CDA Type II reported by Omine et al in 1981 (Acta Haematol Jpn 44:1). They report that no physical or hematological abnormalities were found when she was examined at the age of 29 years. Twenty-five years later, she developed CDA Type II and hemochromatosis. This case indicates that long-term observation of the family members of a patient with CDA Type II is necessary.

摘要

一名患有贫血、糖尿病和肝功能不全的54岁女性入住我院。骨髓中可见大量双核成红细胞，血清酸化试验呈阳性，且其红细胞表面存在抗I和抗i抗原，表明她患有II型先天性红细胞生成异常性贫血（CDA）。肝脏活检证实存在血色素沉着症。该病例是大峰等人于1981年报道的一名II型CDA患者的同胞（《日本血液学杂志》44:1）。他们报告称，她29岁接受检查时未发现身体或血液学异常。25年后，她患上了II型CDA和血色素沉着症。该病例表明，有必要对II型CDA患者的家庭成员进行长期观察。