A novel sickle hemoglobin: hemoglobin S-south end.
A novel sickle hemoglobin: hemoglobin S-south end.
复制标题
一种新型镰状血红蛋白：血红蛋白S-南端。
DOI：
10.1097/00043426-200411000-00019
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发表时间：
2004
期刊：
影响因子：
--
通讯作者：
Chui,DavidHK
中科院分区：
文献类型：
--
作者：
Luo,Hong-Yuan;Adewoye,AdeboyeH;Eung,ShawnH;Skelton,TimothyP;Quillen,Karen;McMahon,Lillian;Steinberg,MartinH;Chui,DavidHK
Sickle hemoglobin (Hb S; β Glu6Val) is due to an A< T transversion in codon 6 of the β-globin gene. Several Hb S variants have both the Hb S mutation plus another mutation in the same β-globin gene. Some of these variant hemoglobins can lead to sickle cell disease even in the simple heterozygote. Moreover, some variant hemoglobins mimic Hb A, S, or C on one or several clinical laboratory diagnostic tools, thus making their correct identification potentially problematic. The authors report a novel Hb S variant hemoglobin, Hb S-South End (β Glu6Val, GAG> G T G; β Lys132Asn, AAA> AA C). When present alone, the β Lys132Asn mutation has low oxygen affinity. Therefore, this mutation may enhance the polymerization of the Hb S variant. Furthermore, the variant hemoglobin mimics Hb A on high-pressure liquid chromatography, and its identity is not easily diagnosed. A succinct review of variant sickle hemoglobins is also presented.
