Compound Heterozygosity for Hb Adana (HBA2: c.179G>A) and the –α3.7/αα Thalassemia Deletion in Greece: Clinical Phenotype and Genetic Counseling-Reference-Cited by-同舟云学术

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Compound Heterozygosity for Hb Adana (HBA2: c.179G>A) and the –α3.7/αα Thalassemia Deletion in Greece: Clinical Phenotype and Genetic Counseling

Published:2018-03-04 Issue:2 Volume:42 Page:129-131
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Theodoridou Stamatia¹,Teli Aikaterini²,Yfanti Eleni³,Vyzantiadis Timoleon-Achilleas⁴,Theodoridis Theodoros⁵,Economou Marina²

Affiliation:

1. Haemoglobinopathy Prevention Unit, Hippokration Hospital of Thessaloniki, Thessaloniki, Greece;

2. First Depatment of Paediatrics, Aristotelion University of Thessaloniki, Thessaloniki, Greece;

3. Thalassaemia National Centre of Greece, Laikon General Hospital of Athens, Athens, Greece;

4. First Department of Microbiology, Medical School, Aristotelion University of Thessaloniki, Thessaloniki, Greece;

5. First Department of Obstetrics and Gynaecology, Aristotelion University of Thessaloniki, Thessaloniki, Greece

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/03630269.2018.1466711

Reference12 articles.

1. Unstable and Thalassemic α Chain Hemoglobin Variants: A Cause of Hb H Disease and Thalassemia Intermedia

2. Interaction of Hb Adana (HBA2: c.179G>A) with Deletional and Nondeletionalα+-Thalassemia Mutations: Diverse Hematological and Clinical Features

3. Hydrops Fetalis Associated with Homozygosity for Hb Adana [α59(E8)Gly→Asp (α2)]

4. Hb adana or α259(E8)Gly→Aspβ2, A severely unstable α1-globin variant, observed in combination with the -(α)20.5 KB α-thal-1 deletion in two Turkish patients

5. A Rare Thalassemic Syndrome Caused by Interaction of Hb Adana [α59(E8)Gly→Asp] with an α+-Thalassemia Deletion: Clinical Aspects in Two Cases

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