Regional experience with newborn screening for sickle cell disease, other hemoglobinopathies and G6PD deficiency

Newborn screening for sickle cell disease, other hemoglobinopathies and G6PDdeficiency is one of the most important means of decreasing mortality and morbidity in high prevalence areas. Nine years experience in newborn screening in Qatif Central Hospital are summarized. Patients and All newborns in Qatif Central Hospital had cord blood screening for sickle cell disease, other hemoglobinopathies and G6PD deficiency using alkaline and electrophoresis, agar gel electrophoresis for sickle cell disease and fluoresecent screening technique for G6PD deficiency. Families of infants with minor hemoglobinopathies and G6PD deficiency were informed about the results in the well baby clinic. From December 1992 to December 2001, 24 012 newborn were screened. 21 858 [91.03%] were Saudi and 2154 [8.97%] were non-Saudi. In the Saudi hemoglobin electrophoresis patterns, AF [normal] was found in 49.52%, hemoglobin FS [sickle cell disease] + FS Bart's [sickle cell disease with alpha thalassemia] in 2.57%, hemoglobin AFS [sickle cell trait] + AFS Bart's [sickle cell trait with alpha thalassemia] in 21.14%, and alpha thalassemia [based on elevated Bart's hemoglobin 2%] in 35.68%. G6PD deficiency was found in 37.02% and 21.27% in males and females, respectively. Of 563 Saudi newborn with a presumptive diagnosis of sickle cell disease, 48 [8.5%] did not come to the hematology clinic or were not contactable. The diagnosis of sickle cell anemia or sickle thalassemia was confirmed in 513 patients, and 2 cases were found to have sickle cell trait on repeat testing. Many parents found it hard to accept the initial diagnosis and the resulting impact on their relationship with one another. Prevention and early identification of sickle cell disease, other major hemoglobinopathies and G6PD deficiency remains the cornerstone of management of these diseases. The main barriers to successful neonatal screening for hemoglobinopathies are the level of the education and deficiency in manpower. We recommend including newborn screening for hemoglobinopathies and G6PD deficiency in the national hypothyroidism screening program in the eastern province and the establishment of a special center for hemoglobinopathies with a high standard of medical care in Qatif

effect of Alfa thalassemia on cord blood red cell indices and interaction with sickle cell gene

alpha -thalassemia is known to be prevalent in the Eastern region of Saudi Arabia. There are no largescale reports regarding the effect of alpha -thalassemia on red cell indices of cord blood from Saudi Arabia. Similarly, there are no reports regarding the interaction of alpha -thalassemia and the sickle cell gene in relation to red cell indices in cord blood. To address these issues, we undertook a study on neonatal cord blood samples. Materials and In a prospective study, cord blood samples from 504 neonates from the Qatif area of the Eastern Province of Saudi Arabia were analyzed for complete blood counts [CBC] and cellulose acetate Hb electrophoresis. Hb S was confirmed by citrate agar Hb electrophoresis. There were 243 case samples with normal Hb electrophoresis [Hb A 27.2 +/- 7% and Hb F 72.6 +/- 7.7%]. Their mean Hb [g/dL], RBC [x1012/L], Hct [%], MCV [fl], MCH [pg], MCHC [g/dL], RDW-SD [fl] and RDWCV [%] were 15.05 +/- 1.6, 4.5 +/- 0.5, 47.4 +/- 5.3, 106 +/- 8, 33.6 +/- 2.3, 31.8 +/- 1.7, 69.2 +/- 9.5 and 17.9 +/- 1.7, respectively. There were 136 cases with alpha -thalassemia trait [alpha TT], 57 cases with sickle cell trait [SCT] and 50 cases of sickle cell trait with alpha -thalassemia trait [SCT/alpha TT]. There were 10 cases of Hb H disease [6 definite], including one with sickle cell disease [SCD] and two with SCT, Hb Bart's 23.9%-43.6%; four probable with Hb Bart's 10.9%-16.1%, and one with SCT. The effect on red cell parameters in Hb H disease were most pronounced. In addition, there were seven cases of SCD, four of whom had coexistent alpha -thalassemia trait [SCD/alpha TT]. The prevalence of alpha -thalassemia in this cohort of Saudi population was 39.99%. Hb H disease appeared as common as SCD. Sickle cell gene was seen in 23.4% of neonatal samples. alpha -thalassemia gene significantly reduces MCH, MCV, RDW-SD, Hct, Hb, and increases RBC count in both normal or sickle cell trait neonates. Generally, the variation of red cell parameters is directly proportional to the amount of Hb Bart's in the cord blood. Sickle cell gene in itself produces low MCV, RDW-SD and MCH in cord blood. Further, normal reference values for red cell parameters of cord blood are established

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

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