Shibuya A, Hirono A, Ishii S, Fujii H, Miwa S
Department of Pediatrics, Saitama Medical School, Japan.
Int J Hematol. 1999 Dec;70(4):233-5.
After ingesting fava beans, a 26-month-old Chinese-Japanese male infant showed a sickly complexion and yellowish-brownish skin and was hospitalized. Severe hemolytic anemia was observed on admission, and transfusion of 200 ml of packed red cells was required. Red cell enzyme assay revealed that the patient and the mother were deficient in glucose-6-phosphate dehydrogenase (G6PD). Subsequent molecular analysis showed that the patient had a missense mutation 1376 G to T (G6PD Canton) and his mother was a homozygote for the mutation. The patient was a son of a Chinese (Taiwanese) mother and a Japanese father. Although G6PD deficiency is rare in the original Japanese population, the number of "imported" cases could be rising rapidly. This is the first reported Japanese case of G6PD deficiency with G6PD Canton.
一名26个月大的中日混血男婴在食用蚕豆后，面色苍白，皮肤呈黄棕色，随后住院治疗。入院时发现严重溶血性贫血，需要输注200毫升浓缩红细胞。红细胞酶分析显示，患者及其母亲缺乏葡萄糖-6-磷酸脱氢酶（G6PD）。随后的分子分析表明，患者存在1376 G到T的错义突变（G6PD广州型），其母亲是该突变的纯合子。患者的母亲是中国人（台湾人），父亲是日本人。虽然G6PD缺乏症在原日本人群中很少见，但“输入性”病例的数量可能正在迅速增加。这是首次报道的日本G6PD广州型缺乏症病例。
