challenge of sickle cell disease in Saudi Arabia

ABSTRACT

The sickle cell gene is common in the Kingdom of Saudi Arabia, the sickle cell trait reaching frequencies of 25% in the Eastern Province and generally lower levels in the Southwest. In the Eastern Province the disease is generally mild, associated with high levels of H[b]F, and a specific beta globin haplotype. In the Southwest, the disease is generally more severe, associated with lower H[b]F levels, and an African [Benin] beta globin haplotype. In both areas relational and other forms of alpha thalassemia reach heterozygous frequencies of approximately 50%. The roles of alpha thalassemia and of high levels of H[b]F in ameliorating the expression of homozygous sickle cell disease are controversial. The Saudi population offers unique opportunities for clarifying these relationships