Molecular spectrum of alpha-thalassemia mutations in microcytic hypochromic anemia patients from Saudi Arabia.
Genet Test Mol Biomarkers
; 13(2): 219-21, 2009 Apr.
Article
em En
| MEDLINE
| ID: mdl-19371220
ABSTRACT
AIM:
To describe the molecular spectrum of alpha-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 alpha-globin gene for deletional and nondeletional mutations.RESULTS:
Besides the common Rightward alpha(-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 alpha-thalassemia defect by routine complete blood count (CBC) necessitate a strict molecular screening of all cases presenting with hypochromic microcytic anemia.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Talassemia alfa
/
Anemia Hipocrômica
/
Mutação
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article