Hb Memphis [HBA2: c.70G>C (orHBA1)] in a Turkish Child: A Case Report and Comparison to Hb Q-Thailand (HBA1: c.223G>C)

Autor:	Lauren Lubrano, D. Brian Dawson, Jennifer L. Oliveira, Kenneth C. Swanson, Gerald Sandler, Michael J. Donnelly, James D. Hoyer
Rok vydání:	2014
Předmět:	Male Turkey Glutamine Hemoglobins Abnormal African descent DNA Mutational Analysis Clinical Biochemistry Mutation Missense Glutamic Acid Family studies Cations Humans Point Mutation Missense mutation Hemoglobin A2 Chromatography High Pressure Liquid Genetics (clinical) Glycated Hemoglobin biology Point mutation Biochemistry (medical) Clinical course Infant Hematology Thailand biology.organism_classification Molecular biology Hb Q-Thailand Ion Exchange Hemoglobin Memphis
Zdroj:	Hemoglobin. 38:137-141
ISSN:	1532-432X 0363-0269
DOI:	10.3109/03630269.2013.867866
Popis:	Hb Memphis [α23(B4)Glu→Gln; HBA2: c.70G C (or HBA1)] is a stable hemoglobin (Hb) variant caused by a substitution of glutamine for glutamic acid at residue 23 of the α2- or α1-globin chain. Heterozygous Hb Memphis has no known clinical or hematological effect, and all prior reports have resulted from observations in persons of African descent with sickle cell disease and an unusually mild clinical course. Family studies suggest that Hb Memphis may modulate sickling. Only brief characterizations of Hb Memphis trait in the absence of Hb S are present in the current literature. We report isolated Hb Memphis trait in Turkish individuals in whom the initial laboratory incorrectly identified the α variant as Q-Thailand [α74(EF3)Asp→His; HBA1: c.223G C]. In one case, a heterozygous -3.7 kb α gene deletion was also present, which increased the variant Hb level to a percentage similar to that of the more common Hb Q-Thailand, which may have led to the misidentification. Herein, we discuss the characterization and comparison of these variants and underscore the necessity of confirming characterization by more than one method prior to assigning Hb variant identification.
Databáze:	OpenAIRE
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