Abstract
Background: Sickle cell disease (SCD) is a common hematological genetic disorder in Saudi Arabia, Africa, the Mediterranean region, and India. The present study aimed to characterize beta(S) haplotypes found in the Jazan region, Saudi Arabia.
Methods: One hundred sickle cell trait (SCT) individuals, diagnosed during their visit to the premarital screening clinic at King Fahad Central Hospital, were included in the study. Molecular analysis was carried out by polymerase chain reaction (PCR) and six polymorphic sites of the beta-globin gene were analyzed using restriction endonucleases Hind II, Xmn- I, Hind III, and Ava II.
Results: The results of the current study revealed the presence of five typical haplotypes in which Benin, Bantu, and Senegal were found in homozygous state with 29%, 3% and 1% frequencies, respectively. Interestingly, 29% of the studied population showed atypical haplotypes in heterozygous state and 2% in homozygous state for the first time in Jazan region.
Conclusions: In addition to the typical haplotypes, high frequency of atypical haplotypes in this study indicates a diverse genetic mechanism that might have a crucial effect on the severity of SCD in this region. Therefore, considering this study in a cohort population with SCD in Jazan region may provide more in-depth details about the correlation between haplotypes and the clinical manifestation of the disease.