Hb Lynwood [αα107(G14) (--T) (αα2) HBA2:c.323delT)] in Conjunction with the αα3.7 Deletion Produces a Moderately Severe αα-Thalassemia Phenotype.

Autor:	Finlayson, Jill, Ghassemifar, Reza, Holmes, Paula, Grey, Dianne, Newbound, Christopher, Pell, Nicole, Jennens, Michelle, Macaulay, Claire, Greenwood, Laura, Beilby, John
Předmět:	THALASSEMIA HUMAN chromosome abnormalities PHENOTYPES GLOBIN GENETIC mutation SUDANESE AMINO acid sequence GENETIC code DISEASES
Zdroj:	Hemoglobin; Apr2011, Vol. 35 Issue 2, p142-146, 5p, 1 Diagram, 1 Chart, 1 Graph
Abstrakt:	We describe a novel frameshift mutation associated with an αα-thalassemia (αα-thal) phenotype in a patient of Sudanese origin investigated for persistent microcytosis. In addition to the αα3.7 deletion, a novel mutation on the αα2 gene was detected: HBA2:c.323delT. This mutation causes a frameshift at codon 107 of the αα2 gene. The result is a disturbed amino acid sequence for the following 24 amino acids, and a premature termination codon at position 132. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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