Article
Hb M Dothan [beta 25/26 (B7/B8)/(GGT/GAG-->GAG//Gly/Glu-->Glu]; a new mechanism of unstable methemoglobin variant and molecular characteristics.
Blood cells, molecules & diseases - 1 Jan 2000
Kutlar F, Hilliard L M, Zhuang L, Patel N, Eroglu B, Meiler S E, Carmichael H, Russell R B, Kutlar A
Abstract excerpt
A new unstable beta globin chain variant associated with methemoglobin (Met-Hb) phenotype was found in a Caucasian infant. Molecular analysis of the beta globin gene using polymerase chain reaction (PCR) amplification and sequencing led to the detection of a new in frame deletion in exon-1. Direct sequencing of the PCR product revealed a 3 bp deletion (-GTG) between codons 25/26, which resulted in the loss of a...
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