Clinical, Biochemical, and Hematological Presentation of a ß (+) Thalassemia due to the Poly A (T− > C) Mutation (HBB c.*110T > C (rs33978907)) Discovered in a Senegalese Family-Reference-Cited by-同舟云学术

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Clinical, Biochemical, and Hematological Presentation of a ß (+) Thalassemia due to the Poly A (T− > C) Mutation (HBB c.*110T > C (rs33978907)) Discovered in a Senegalese Family

Published:2023-06-13 Issue:4 Volume:8 Page:821-825
ISSN:2475-7241
Container-title:The Journal of Applied Laboratory Medicine
language:en
Short-container-title:

Author:

Tall Fatou G¹^ORCID,Mbancké Serigne Saliou¹,Ndour El hadji M¹,Ngom Diadji¹,Joly Philippe²

Affiliation:

1. Laboratoire de Biochimie Pharmaceutique, Faculté de Médecine, de Pharmacie et d'Odontologie, Université Cheikh Anta Diop , Dakar, 5005, Sénégal

2. Unité Fonctionnelle, Biochimie des pathologies érythrocytaires, Hospices Civils de Lyon Laboratoire de Biologie Médicale Multi Sites (LBMMS)-Centre de Biologie et de Pathologie Est (CBPE) , Lyon , France

Publisher

Oxford University Press (OUP)

Subject

General Medicine

Link

https://academic.oup.com/jalm/article-pdf/8/4/821/50778301/jfad029.pdf

Reference8 articles.

1. Prenatal and newborn screening for hemoglobinopathies;Hoppe;Int J Lab Hematol,2013

2. Variable hematological and clinical presentation of β-thalassemia carriers and homozygotes with the poly A (T→C) mutation in the Indian population;Italia;Eur J Haematol,2012

3. Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human beta-globin gene;Orkin;EMBO J,1985

4. Profiling β-thalassemia mutations in India at state and regional levels: implications for genetic education, screening and counseling programs;Sinha;Hugo J,2009

5. Molecular study and genotype/phenotype correlation of β thalassemia in Malaysia;Sivalingam;Int J Lab Hematol,2012

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