吡哆醇反应性铁粒幼细胞性贫血1例

A case of pyridoxine reactive sideroblastic anemia

1病例资料 患者，男，28岁。因“头晕、乏力2周，加重2d”于2014年1月6日入院。体检：重度贫血貌，全身皮肤黏膜苍白，浅表淋巴结未触及肿大，肝脾未触及肿大。既往无特殊药物及毒物接触史，无烟酒嗜好。平素体健，无肝炎及结核病史。血常规：

Summary A male patient was admitted due to dizziness and fatigue. Measurements of blood showed hypochromic anemia （hemoglobin 53 g/L）. The patient was examined on hematology, cell morphology, iron staining, and molecular genetics. He has no family history of specific diseases. Large dose of vitamin B6 treatment is effective,excluding hereditary sideroblastic anemia, primary sideroblastic anemia （MDS-RARS） and secondary sideroblastic anemia. The patient was diagnosed as pyridoxine reactive sideroblastic anemia. It is supposed to be caused by the abnormalities of pyridoxine metabolism or the lack of amino-T-ALA synthase in the erythrocyte. Further studies are needed to confirm other pathogenetic mechanism of this disease at molecular or genetic level.