Hb Lake Tapawingo [α46(CE4)Phe→Ser; HBA2:c.140T>C]: a new unstable α chain hemoglobin variant associated with low systemic arterial saturation.
Hb Lake Tapawingo [α46(CE4)Phe→Ser; HBA2:c.140T>C]: a new unstable α chain hemoglobin variant associated with low systemic arterial saturation.
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HB湖Tapawingo [α46（CE4）PHE→Ser; HBA2：c.140t> c]：一种与低系统性动脉饱和相关的新型不稳定的α链血红蛋白变体。
DOI：
10.3109/03630269.2011.598986
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发表时间：
2011
期刊：
影响因子：
1
通讯作者：
Zwick DL
中科院分区：
文献类型：
--
作者：
Guest EM;Neville KA;Hoyer JD;Safo MK;Garg U;Saunders CJ;Abdulmalik O;Zwick DL
A new unstable alpha globin variant was detected in a child with hypoxemia and anemia. The child’s mother was found to carry the same mutation. The hemoglobin variant co-eluted with Hb A2 by cation-exchange high performance liquid chromatography (CE-HPLC) and appeared cathodal to Hb A and anodal to Hb F by isoelectric focusing. It represented less than 20% of the total hemoglobin and was unstable by isopropanol testing. Gene sequencing identified a missense mutation in the α2 gene [HBA2:c.140T>C]. Oxygen dissociation and P50 test results were normal.
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