Chandra Dinesh, Dhingra Bhavna, Seth Tulika, Mishra Pravas, Bansal Divya, Mahapatra Manoranjan, Pati H P
Department of Haematology, AIIMS, New Delhi, India.
Department of Pediatrics, AIIMS, Bhopal, India.
Indian J Hematol Blood Transfus. 2017 Sep;33(3):402-404. doi: 10.1007/s12288-016-0746-z. Epub 2016 Nov 16.
Hereditary hypotransferrinemia is a very rare cause of iron deficiency anemia in childhood characterized by microcytic hypochromic anemia refractory to iron therapy and concomitant iron overload. Regular plasma infusion to replace the deficient transferrin molecule is the therapeutic option. We report two cases; both presented with refractory anemia requiring blood transfusions and responded to monthly fresh frozen plasma replacement.
遗传性低转铁蛋白血症是儿童缺铁性贫血的一种非常罕见的病因，其特征为小细胞低色素性贫血，对铁剂治疗无效且伴有铁过载。定期输注血浆以补充缺乏的转铁蛋白分子是治疗选择。我们报告两例病例；二者均表现为难治性贫血，需要输血，且对每月一次的新鲜冷冻血浆置换有反应。
