Combination of Hb Knossos [Cod 27 (G-T)] and IVSII-745 (C-G) in a Turkish Patient with Beta-Thalassemia Major
Author:
Affiliation:
1. Departments of Medical Biology and Genetics, Medical School, Akdeniz University, 07070, Antalya, Turkey.
2. Departments of Paediatric Hematology, Medical School, Akdeniz University, 07070, Antalya, Turkey.
Publisher
Mary Ann Liebert Inc
Subject
Genetics(clinical)
Link
http://www.liebertpub.com/doi/pdf/10.1089/gte.2006.0521
Reference11 articles.
1. ‘Silent’ β-thalassaemia caused by a ‘silent’ β-chain mutant: the pathogenesis of a syndrome of thalassaemia intermedia
2. Hb ANTALYA [CODONS 3–5 (Leu-Thr-Pro → Ser-Asp-Ser)]: A NEW UNSTABLE VARIANT LEADING TO CHRONIC MICROCYTIC ANEMIA AND HIGH Hb A2
3. Molecular Analysis of Beta-Thalassemia and Sickle Cell Anemia in Antalya
4. β-Thalassemia Intermedia in Two Turkish Families is Caused by the Interaction of HB Knossos [β27(B9)ALA→SER] and of HB City of hope [β69(E13)Gly→Ser] with B°-Thalassemia
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1. Hb Knossos (HBB: c.82G > T), β-globin CD 5 (−CT) (HBB: c.17_18delCT) and δ-globin CD 59 (−a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia;BMC Pediatrics;2019-02-18
2. β-Thalassemia gene mutations in Antalya, Turkey: results from a single centre study;Hemoglobin;2016-11
3. Hb Knossos: HBB:c.82G>T Associated with HBB:c.315+1G>A Beta Zero Mutation Causes Thalassemia Intermedia;Indian Journal of Hematology and Blood Transfusion;2014-01-31
4. δ0-Thalassemia in cis of βKnossos globin gene: first homozygous description in thalassemia intermedia Libyans and first combination with codon 39 (C→T) in thalassemia intermedia Tunisian patients;Clinical Chemistry and Laboratory Medicine;2012-01-01
5. Rapid detection of multiple β-globin gene mutations by a real-time polymerase chain reaction in β-thalassemia carriers;The Egyptian Journal of Haematology;2012
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