The Australian type of nondeletional Gγ‐HPFH has a C→G substitution at nucleotide — 114 of the Gγ gene
Authors:
- 1 January 1994
- journal article
- case report
- Published by Wiley in British Journal of Haematology
- Vol. 86 (1) , 219-221
Abstract
Nondeletional hereditary persistence of fetal haemoglobin (HPFH) results in the continued production of 2-25% haemoglobin F (Hb F) in the adult who is heterozygous for this mutation. This increase is associated with single-base mutations in the promoter region of either the G gamma- or A gamma-globin genes. Affected positions include -202, -175, -161, -158 and -114 of the G gamma gene, and -202, -198, -196, -195, -175, and -117 of the A gamma gene. There is now evidence that these mutations produce their effect by changing the binding of certain regulatory proteins. We describe a novel C-->G transversion at position -114 of the G gamma gene which is associated with the phenotype of G gamma-HPFH.Keywords
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