IVS-II-16 (G>C) (HBB: c.315+16G>C) or IVS-II-666 (C>T) (HBB: c.316-185C>T) Mutations Trigger an Hb S (HBB: c.20A>T)/β+-Thalassemia Phenotype in an Hb S Trait Patient-Reference-Cited by-同舟云学术

IVS-II-16 (G>C) (HBB: c.315+16G>C) or IVS-II-666 (C>T) (HBB: c.316-185C>T) Mutations Trigger an Hb S (HBB: c.20A>T)/β+-Thalassemia Phenotype in an Hb S Trait Patient

Published:2021-07-04 Issue:4 Volume:45 Page:225-227
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Uçucu Süheyl¹^ORCID,Karabıyık Talha²^ORCID,Azik Fatih M.³^ORCID

Affiliation:

1. Department of Medical Biochemistry, Muğla Public Health Care Laboratory, Muğla, Turkey

2. Department of Medical Biochemistry, Bursa City Hospital, Bursa, Turkey

3. Department of Pediatric Hematology-Oncology, Faculty of Medicine, Muğla Sıtkı Koçman University, Muğla, Turkey

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/03630269.2021.1965620

Reference16 articles.

1. The carrier state for sickle cell disease is not completely harmless

2. Sickle-Cell Trait: Novel Clinical Significance

3. Molecular basis of β thalassemia and potential therapeutic targets

4. Hb S/β-Thalassemia in the REDS-III Brazil Sickle Cell Disease Cohort: Clinical, Laboratory and Molecular Characteristics

5. National Center for Biotechnology Information-ClinVar, 1988. Available from: https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000256345.5.

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