Neonatal screening for sickle cell disease, glucose-6-phosphate dehydrogenase deficiency and alpha-thalassemia in Qatif and Al Hasa

Background: Screening programs to determine the frequency of sickle cell, g lucose-6-phosphate dehydrogenase deficiency and alpha-thalassemia gene are available in Saudi Arabia, although not used frequently. Greater use of the se programs will decrease the morbidity and mortality of Saudi children aff ected by these disorders. Patients and Methods: Neonatal hemoglobin electrophoresis and glucose-6-deh ydrogenase fluorescent spot tests were performed on newborn babies delivere d between December 1992 and December 1993 at the Qatif Central Hospital and at the King Fahad Hospital in Al Hasa. Cord blood samples were collected f rom babies born in these two hospitals. Babies born in other hospitals had blood collected in their first visit to Qatif primary care centers at the t ime of vaccination. All specimens were sent to Dammam Central Laboratory. T he diagnosis of sickle cell and alpha-thalassemia was based on cellulose ac etate electrophoresis and confirmed by agar gel electrophoresis, and glucos e-6-phosphate dehydrogenase was confirmed by fluorescent spot test. Results: A total of 12,220 infants, including 11,313 Saudis (92.6%), were s creened over a 12-month period. The common phenotypes detected in these inf ants included AF, AF Bart's, SFA, SFA Bart's, FS and FS Bart's. In the Saud i infants, homozygous sickle cell disease was detected in 2.35% and 1.08% i n Qatif and Al Hasa, respectively. The frequencies of sickle cell gene were 0.1545% and 0.1109% in Qatif and Al Hasa. alpha-thalassemia gene based on an elevated level of Hb Bart's were 28% and 16.3% in Qatif and Al Hasa. The screening for G6PD deficiency revealed a high prevalence of 30.6% and 14.7 % in Qatif and Al Hasa. In the non-Saudi infants, the frequencies were low. Conclusion: The outcome of this study indicates that the Saudi populations in Qatif and Al Hasa are at risk for hemoglobinopathies and G6PD. Neonatal screening programs are essential and cost effective and should be maintaine d as a routine practice.