Description of the Phenotypes of 63 Heterozygous, Homozygous and Compound Heterozygous Patients Carrying the Hb Groene Hart [α119(H2)Pro→Ser;HBA1: c.358C>T] Variant-Reference-Cited by-同舟云学术

Description of the Phenotypes of 63 Heterozygous, Homozygous and Compound Heterozygous Patients Carrying the Hb Groene Hart [α119(H2)Pro→Ser;HBA1: c.358C>T] Variant

Published:2013-10-10 Issue:1 Volume:38 Page:64-66
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Joly Philippe,Lacan Philippe,Garcia Caroline,Francina Alain

Publisher

Informa UK Limited

Subject

Biochemistry, medical,Clinical Biochemistry,Genetics(clinical),Hematology

Link

http://www.tandfonline.com/doi/pdf/10.3109/03630269.2013.834264

Reference10 articles.

1. Hb GROENE HART: A NEW Pro→Ser AMINO ACID SUBSTITUTION AT POSITION 119 OF THEα1-GLOBIN CHAIN IS ASSOCIATED WITH A MILDα-THALASSEMIA PHENOTYPE

2. Detection of a Thalassemic α-Chain Variant (Hemoglobin Groene Hart) by Reversed-Phase Liquid Chromatography

3. Impaired binding of AHSP to α chain variants: Hb Groene Hart illustrates a mechanism leading to unstable hemoglobins with α thalassemic like syndrome

4. First Description in Tunisia of a Point Mutation at Codon 119 (CCT→TCT) in the α1-Globin Gene: Hb Groene Hart in Association with the − α3.7Deletion

5. The First Case of Hb Groene Hart [α119(H2)Pro→Ser,CCT→TCT (α1)] Homozygosity Confirms That a Thalassemia Phenotype Is Associated with this Abnormal Hemoglobin Variant

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