Hb Oslo [42(Cd1)Pheile; Hbb: C.127t > A]: A Novel Unstable Hemoglobin Variant Found In A Norwegian Patient

HEMOGLOBIN(2018)

引用 3|浏览37
暂无评分
摘要
Unstable hemoglobin (Hb) variants are the result of sequence variants in the globin genes causing precipitation of Hb molecules in red blood cells (RBCs). Intracellular inclusions derived from the unstable Hb reduce the life-span of the red cells and may cause hemolytic anemia. Here we describe a patient with a history of hemolytic anemia and low oxygen saturation. She was found to be carrier of a novel unstable Hb variant, Hb Oslo [42(CD1)PheIle (TTT>ATT), HBB: c.127T>A] located in the heme pocket of the -globin chain. Three-dimensional modeling suggested that isoleucine at position 42 creates weaker interactions with distal histidine and with the heme itself, which may lead to altered stability and decreased oxygen affinity. At steady state, the patient was in good clinical condition with a Hb concentration of 8.0-9.0g/dL. During virus infections, the Hb concentration fell and on six occasions during 4 years, the patient needed a blood transfusion.
更多
查看译文
关键词
beta-Globin gene, hemoglobinopathy, hemolysis, hemolytic anemia, unstable hemoglobin (Hb)
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要