两种新的血红蛋白变异体：西奈-格林斯普林血红蛋白[β34（B16）缬氨酸→异亮氨酸，GTC > ATC]和西奈-贝莱尔血红蛋白[β53（D4）丙氨酸→天冬氨酸，GCT > GAT]。
Two new hemoglobin variants: Hb Sinai-Greenspring [beta34(B16)Val-->Ile, GTC > ATC] and Hb Sinai-Bel Air [beta53(D4)Ala-->Asp, GCT > GAT].
作者信息
Dainer Erin, Wenk Robert E, Luddy Ruth, Elam Dedrey, Holley Leslie, Kutlar Abdullah, Kutlar Ferdane
机构信息
Sickle Cell Center, Department of Medicine, Medical College of Georgia, Augusta, GA 30912, USA.
出版信息
Hemoglobin. 2008;32(6):588-91. doi: 10.1080/03630260802507931.
Neonatal screening for hemoglobinopathies occasionally results in the detection of novel hemoglobin (Hb) variants. Two heterozygous infants were found with different beta chain mutations, neither of which produced obvious clinical or laboratory abnormalities on routine examinations. The variants were characterized by cation exchange high performance liquid chromatography (HPLC), reversed phase HPLC, and sequencing of amplified beta-globin genes. Functional studies could not be performed at this time.
新生儿血红蛋白病筛查偶尔会检测到新型血红蛋白（Hb）变体。发现两名杂合子婴儿存在不同的β链突变，在常规检查中，这两种突变均未产生明显的临床或实验室异常。通过阳离子交换高效液相色谱（HPLC）、反相HPLC以及扩增的β珠蛋白基因测序对这些变体进行了表征。目前无法进行功能研究。
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