A New δ Chain Variant, Hb A2-Tunis [δ46(CD5)Gly → Glu;HBD: c.140G>A], Observed in a Tunisian Family in Association with a Compound Heterozygosity for Hb C [β6(A3)Glu → Lys;HBB: c.19G>A] β0-Thalassemia [IVS-I-1 (β143, G>A);HBB: c.92+1G>A]-Reference-Cited by-同舟云学术

A New δ Chain Variant, Hb A2-Tunis [δ46(CD5)Gly → Glu;HBD: c.140G>A], Observed in a Tunisian Family in Association with a Compound Heterozygosity for Hb C [β6(A3)Glu → Lys;HBB: c.19G>A] β0-Thalassemia [IVS-I-1 (β143, G>A);HBB: c.92+1G>A]

Published:2014-01-29 Issue:2 Volume:38 Page:88-90
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Moumni Imen,Zorai Amine,Mahjoub Sonia,Mosbahi Ikbel,Chaouechi Dorra,Benromdhane Neila,Abbes Salem

Publisher

Informa UK Limited

Subject

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

Link

http://www.tandfonline.com/doi/pdf/10.3109/03630269.2013.872123

Reference9 articles.

1. Classification of the Disorders of Hemoglobin

2. Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features

3. Genotype-Phenotype Relationship of the δ-Thalassemia and Hb A2Variants: Observation of 52 Genotypes

4. Observations on the levels of Hb A2 in patients with different beta- thalassemia mutations and a delta chain variant

5. Molecular evidences of single mutational events followed by recurrent crossing-overs in the common δ-globin alleles in the Mediterranean area

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1. Development of a High Resolution Melting Curve Analysis for the Detection of Hemoglobin δ-Chain Variants in Thailand and Identification of Hb A2-Walsgrave [codon 52 (GAT>CAT), Asp→His; HBD:c.157G>C] in a Pregnant Woman from Southern Thailand;Genetic Testing and Molecular Biomarkers;2021-06-01

2. Genotype-phenotype Correlation of β-Thalassemia in Croatian Patients: A Specific HBB Gene Mutations;Journal of Pediatric Hematology/Oncology;2018-03

3. Rare hemoglobin variants in Tunisian population;International Journal of Laboratory Hematology;2014-06-06