Article
Two new hemoglobin variants: Hb Sinai-Greenspring [beta34(B16)Val-->Ile, GTC > ATC] and Hb Sinai-Bel Air [beta53(D4)Ala-->Asp, GCT > GAT].
Hemoglobin - 1 Jan 2008
Dainer Erin, Wenk Robert E, Luddy Ruth, Elam Dedrey, Holley Leslie, Kutlar Abdullah, Kutlar Ferdane
Abstract excerpt
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...
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