Hemoglobinopathies (HBP) are the most common autosomal recessive genetic disorder in Oman. Carriers are usually asymptomatic but carrier couples are at 25% risk of getting a severely affected child... Show moreHemoglobinopathies (HBP) are the most common autosomal recessive genetic disorder in Oman. Carriers are usually asymptomatic but carrier couples are at 25% risk of getting a severely affected child. Public health authorities have focused not only on state of the art management and patient care but also on prevention. The focus of this thesis is to study the molecular spectrum of HBP and the associated genetic determinants to work towards the development of prevention strategies for severe HBP__s in Oman. We have defined the molecular spectrum of the disease all around the country, including beta, alpha and delta globin gene mutations. Furthermore, genotype/phenotype correlation studies were investigated in patients with sickle cell disease (SCD) by looking at determinants such as haplotype/sub-haplotype, alpha thalassemia and hydroxyurea response based on XmnI polymorphism. Identifying genetic determinants is necessary for prognostic purposes, accurate diagnosis and planning for the best tailored treatment to the affected patients. While providing tools for a better care and a better insight on the management of these severe diseases in Oman, the results from this thesis will help to facilitate the prevention of HBP in the country. Show less
Sickle cell disease is known to be very common in the Omani population, although data are limited concerning beta-thalassemia (beta-thal). We report the molecular background of 87 unrelated... Show moreSickle cell disease is known to be very common in the Omani population, although data are limited concerning beta-thalassemia (beta-thal). We report the molecular background of 87 unrelated patients from the Sultanate of Oman, diagnosed with beta-thal major (beta-TM), beta-thal intermedia (beta-TI) or minor. Diagnosis was based on clinical and hematological data and confirmed by molecular analysis. We found 11 different beta-thal determinants in our cohort, which consists of subjects from different regions of Oman. Six of these mutations have not been previously reported in the Omani population. The prevalence of alpha-thal single gene deletions (-alpha Show less
![Hb Lansing (HBA2: c.264C > G) and a New beta Promoter Transversion [-52 (G > T)]: An Attempt to Define the Phenotype of Two Mutations Found in the Omani Population](/sites/all/modules/custom/islandora_solr_search/images/defaultimg.png?solr_nav%5Bid%5D=9838f7588051c2a286c8&solr_nav%5Bpage%5D=0&solr_nav%5Boffset%5D=0)
