Mutations on the α2-Globin Gene That May Trigger α(+)-Thalassemia

Hemoglobin
Samaneh FarashiHossein Najmabadi

Abstract

In the present study, a total of 11 individuals with hypochromic microcytic anemia who did not reveal the most common α-thalassemia (α-thal) deletions or mutations, were subjected to more investigations by DNA sequencing of the α-globin genes. Seven novel nondeletional α-thal mutations localized on the α2-globin gene in the heterozygous state were identified. These mutations either corrupted regulatory splice sites and consequently affected RNA processing or created unstable hemoglobin (Hb) variants. The mutations described here produced globin gene variants that lead to amino acid changes in critical regions of the globin chain. The clinical presentation of most patients was a persistent mild microcytic anemia similar to an α(+)-thal. In the last decade, numerous α-globin mutations have been observed leading to an α-thal phenotype and these studies have been considered to be important as discussed here.

References

Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Jul 1, 1987·The Journal of Clinical Investigation·S A LiebhaberM H Steinberg
Jan 1, 1985·Annals of the New York Academy of Sciences·Y W Kan
Jul 1, 1985·British Journal of Obstetrics and Gynaecology·S T LiangD Todd
Aug 1, 1981·Proceedings of the National Academy of Sciences of the United States of America·S H OrkinR L Hechtman
Jul 1, 1994·American Journal of Hematology·E Baysal, T H Huisman
Mar 1, 1993·Baillière's Clinical Haematology·D R Higgs
Mar 1, 1993·Baillière's Clinical Haematology·S L Thein
Sep 21, 2000·British Journal of Haematology·C L HarteveldP C Giordano
Oct 24, 2002·Blood·David H K ChuiVivian Chan
Feb 27, 2003·Hemoglobin·Maryam NeishaburyHossein Najmabadi
Dec 3, 2003·Hemoglobin·Andrea P TwomeyDonald K Bowden
Apr 14, 2006·Community Genetics·Hossein NajmabadiMohammand Hassan Kariminejad
Jul 4, 2007·Haematologica·Valeh HadaviHossein Najmabadi
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev

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