Neonatal screening for sickle cell disease, glucose-6-phosphate dehydrogenase deficiency and alpha-thalassemia in qatif and al hasa

ABSTRACT

Screening programs to determine the frequency of sickle cell, glucose-6-phosphate dehydrogenase deficiency and alpha-thalassemia gene are available in Saudi Arabia, although not used frequently. Greater use of these programs will decrease the morbidity and mortality of Saudi children affected by these disorders. Neonatal hemoglobin electrophoresis and glucose-6-dehydrogcnase Fluorescent spot tests were performed on newborn babies delivered 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 from 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 time of vaccination. All specimens were sent to Dammam Central Laboratory. The diagnosis of sickle cell and alpha-halassemia was based on cellulose acetate electrophoresis and confirmed by agar gel electrophoresis, and glucose-6-phosphate dehydrogenase was confirmed by fluorescent spot test. Results: A total of 12,220 infants, including 11,313 Saudis [92.6%], were screened over a 12-month period. The common phcnotypes detected in these infants included AF, AF Bart's, SFA, SFA Bart's, FS and FS Bart's. In the Saudi infants, homozygous sickle cell disease was detected in 2.35% and 1.08% in 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. 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 maintained as a routine practice