Molecular Spectrum of α-Thalassemia Mutations in Microcytic Hypochromic Anemia Patients from Saudi Arabia
- 1 April 2009
- journal article
- research article
- Published by Mary Ann Liebert Inc in Genetic Testing and Molecular Biomarkers
- Vol. 13 (2), 219-221
- https://doi.org/10.1089/gtmb.2008.0123
Abstract
Aim: To describe the molecular spectrum of α-thalassemia molecular defects in a population sample of Saudi Arabian patients from the eastern province. Methods: DNA was extracted from 41 patients suffering from microcytic, hypochromic anemia. We screened the α-globin gene for deletional and nondeletional mutations. Results: Besides the common Rightward α−3.7 (64%), polyA mutation (AATAAA to AATAAG) was found (41%). The risk of developing hemoglobin H (HBH) disease in case of homozygous polyA inheritance highlights the importance of detecting such mutation. Conclusion: The high prevalence of polyA mutation and the lack of any clue in discerning such α-thalassemia defect by routine complete blood count (CBC) necessitate a strict molecular screening of all cases presenting with hypochromic microcytic anemia.Keywords
This publication has 14 references indexed in Scilit:
- A Moderately Severe α-Thalassemia Condition Resulting From a Combination of the α2 Polyadenylation Signal (AATAAA→AATA– –) Mutation and a 3.7 Kb α Gene Deletion in an Australian FamilyHemoglobin, 2007
- Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common α-thalassemia point mutations and deletionscclm, 2007
- Complex phenotypes in the haemoglobinopathies: recommendations on screening and DNA testingPathology, 2006
- Haemoglobin H hydrops fetalis syndrome associated with homozygosity for the α2‐globin gene polyadenylation signal mutation AATAAA→AATA– –British Journal of Haematology, 2006
- α‐Thalassemia: Hb H Disease and Hb Barts Hydrops FetalisAnnals of the New York Academy of Sciences, 2005
- Alpha-2-Globin Gene Polyadenylation (AATAAA→AATAAG) Mutation in Hemoglobin H Disease among KuwaitisMedical Principles and Practice, 2005
- Molecular spectrum of ?-thalassemia in the Iranian population of Hormozgan: Three novel point mutation defectsAmerican Journal of Hematology, 2003
- Rapid detection of α‐thalassaemia deletions and α‐globin gene triplication by multiplex polymerase chain reactionsBritish Journal of Haematology, 2000
- The Molecular Basis of HB H Disease in TurkeyHemoglobin, 1997
- Rapid analysis of ‐α3.7 thalassaemia and αααanti 3.7 triplication by enzymatic amplification analysisBritish Journal of Haematology, 1993