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[与遗传性球形红细胞增多症相关的叶酸缺乏所致巨幼细胞贫血]

[Megaloblastic anemia due to folate deficiency associated with hereditary spherocytosis].

作者信息

Mori H, Takahashi N, Tada J, Higuchi T, Shimizu T, Harada H, Maeda T, Miyoshi Y, Okada S, Niikura H

机构信息

Division of Hematology, Showa University Fujigaoka Hospital.

出版信息

Rinsho Ketsueki. 1994 Apr;35(4):397-402.

PMID:8028187
Abstract

A 19 years old male admitted to our hospital with fever, abdominal pain in May 1991. Physical examination revealed anemia, jaundice and marked splenomegaly. Severe pancytopenia with macrocytic hyperchronic anemia was noted along with elevated LDH and reduced serum folate. Blood smear showed nucleated RBCs, but only few microspherocytes. Bone marrow showed erythroid hyperplasia with remarkable megaloblastic changes. Megaloblasts were negative for PAS stain. Chromosome analysis revealed normal karyotype. Erythroleukemia was suspected initially, but his general condition as well as hematological data improved following 10 units of RBC transfusion. Following brief folic acid supplements, numerous microspherocytes became evident, typical osmotic fragility test revealed a pattern for hereditary spherocytosis. These observations led us to the diagnosis of hereditary spherocytosis complicated by megaloblastic anemia due to folate deficiency. As he developed folate deficiency again 10 months later, splenectomy were performed. The anemia improved after splenectomy.

摘要

1991年5月,一名19岁男性因发热、腹痛入院。体格检查发现贫血、黄疸和明显脾肿大。伴有大细胞高色素性贫血的严重全血细胞减少,同时乳酸脱氢酶升高,血清叶酸降低。血涂片显示有核红细胞,但仅见少量小球形红细胞。骨髓显示红系增生,有明显的巨幼细胞改变。巨幼细胞PAS染色阴性。染色体分析显示核型正常。最初怀疑为红白血病,但输注10单位红细胞后其一般状况及血液学数据均有改善。短期补充叶酸后,大量小球形红细胞变得明显,典型的渗透脆性试验显示为遗传性球形红细胞增多症的模式。这些观察结果使我们诊断为遗传性球形红细胞增多症合并叶酸缺乏所致的巨幼细胞贫血。10个月后他再次出现叶酸缺乏,遂行脾切除术。脾切除术后贫血改善。

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