Toward prevention of Hemoglobinopathies in Oman

Hassan, S.M. (2015)

Doctoral Thesis

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. 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.

• Oman
• Prevention
• Sickle cell disease
• Alpha thalassemia
• Beta thalassemia

• All authors: Hassan, S.M.
• Supervisor: Bakker, E.
• Co-supervisor: Giordano, P.C.; Harteveld, C.L.
• Qualification: Doctor (dr.)
• Awarding Institution: Faculty of Medicine (LUMC), Leiden University
• Date: 2015-09-22
• ISBN (print): 9789461825780