Shamsian Bibi Shahin, Rezaei Nima, Arzanian Mohammad Taghi, Alavi Samin, Khojasteh Omid, Eghbali Aziz
Department of Pediatric Hematology-Oncology, Mofid Children's Hospital, Shahid Beheshti Medical University, Tehran, Iran.
Pediatr Hematol Oncol. 2009 Jul-Aug;26(5):356-62. doi: 10.1080/08880010902973251.
Congenital atransferrinemia or hypotransferrinemia is a very rare autosomal recessive disorder, characterized by a deficiency of transferrin, resulting in hypochromic, microcytic anemia and hemosiderosis. The authors describe a 10-year-old Iranian girl with hypochromic microcytic anemia. The age presentation of anemia was 3 months. Further evaluations indicate severe hypochromic microcytic anemia with decreased serum levels of iron, TIBC, and increased serum level of ferritin in this patient. The serum level of transferrin was decreased. The diagnosis of atransferrinemia was confirmed. Although atransferrinemia is a rare condition, it should be considered in the cases with hypochromic microcytic anemia, decreased serum levels of iron, TIBC, and increased serum level of ferritin.
先天性无转铁蛋白血症或低转铁蛋白血症是一种非常罕见的常染色体隐性疾病，其特征是转铁蛋白缺乏，导致低色素性小细胞贫血和含铁血黄素沉着症。作者描述了一名患有低色素性小细胞贫血的10岁伊朗女孩。贫血出现的年龄为3个月。进一步评估表明，该患者存在严重的低色素性小细胞贫血，血清铁、总铁结合力水平降低，血清铁蛋白水平升高。转铁蛋白血清水平降低。无转铁蛋白血症的诊断得到证实。尽管无转铁蛋白血症是一种罕见病症，但对于出现低色素性小细胞贫血、血清铁和总铁结合力水平降低以及血清铁蛋白水平升高的病例，应考虑该病。
