PREVALENCE OF THALASSEMIA AND SICKLE CELL DISEASE IN NORTHERN BORDER REGION OF SAUDI ARABIA

Background: Inherited haemoglobin disorders (haemoglobinopathies) are predominantly single-gene autosomal recessive disorders that result in production of structurally abnormal haemoglobin variants (sickle-cell disease) or a reduction in the synthesis of structurally normal globin (β-thalassemia). The objective of this study was to see the prevalence of thalassemia and sickle cell disease in Northern Border Region of Saudi Arabia and to counsel the couples for pre-marital screening of blood to avoid the disease. Methods: This was retrospective study carried out in the Department of Physiology, College of Medicine, Northern Border University with Collaboration of Central Hospital Arar, during Muharram to Zulaghaeda 1434 H. We collected data of 23,522 male and female patients who visited the Central Hospital Arar, Marriage Center of Northern Border Region in Arar during 1425 H to 1431 H; where the couples were counselled for pre-marital screening of blood to avoid the disease. Results: Prevalence of haemoglobinopathies in 1425 H was 2.8% compared to the prevalence of haemoglobinopathies in 1430 H (0.4%). Prevalence of sickle cell carriers was 44.75% in 1427 compared to prevalence in 1427 H (5.4%). Prevalence of β-Thalassemia was (92.7%) in 1425 H compared to prevalence in 1427 H (55.3%). Conclusion: The cases of haemoglobinopathies are present in our area. Premarital screening and genetic counselling markedly reduced the number of atrisk marriages, which may considerably reduce the genetic disease over the coming decades.