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

BACKGROUND

Newborn screening for sickle cell disease, other hemoglobinopathies and G6PD deficiency 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 METHODS

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 fluorescent screening technique for G6PD deficiency. Families of infants with minor hemoglobinopathies and G6PD deficiency were informed about the results in the well baby clinic.

RESULTS

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 > or = 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.

CONCLUSION

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.