Newborn screening for sickle cell anemia

NEWBORN SCREENINNG FOR SICKLE CELL ANEMIAZEYNEP ÖZTÜRKHemoglobinopathies are hereditary disorders of the hemoglobin moleculewith a high prevalance worldwide. Hb S is the most common variant hemoglobinand results from a single aminoacid subsititution of valine for glutamic acid atthe sixth position of the β-globin chain. Sickle cell diseases are common amongpeople from Africa, Mediterranean countries, Turkey, the Arabian peninsula,Indian subcontinent, and United States. It is an important problem for ourcountry especially for our region. In a screening study including adults, Hb Shad the highest prevalance after thalassemia but there is no study in literatureperformed in newborn period. An effective neonatal screening program for sicklecell disease will reduce morbity by providing early diagnosis and by this way cansave lives of children with this disorder.In this study we aimed to identify prevelance of sickle cell disorder andheterozygous individuals in newborn period in Antalya population. This studywas conducted in 8-month period in Akdeniz University Hospital. During thestudy period, 806 samples were tested. Heel prick samples of newborn takenonto Guithre filter paper and 3-mm spots used for test. The samples wereperformed by Bio Rad Variant HPLC (High Presssure Liquid Chromatography)system and Sickle Cell Short Program was chosen as the test method. Thisprogram is specially designed to provide a qualitative result for hemoglobins A,F, S, C, D, and E in neonates. Three newborn was found to be sickle cell trait(%0,37) and one was found to be Hb D trait (%0,12). All four trait infants withtheir parents and siblings were called later and their hemoglobins analysis wereperformed again to confirm thr diagnosis. Genetic counselling was given to thosefamilies. No homozygous sickle cell patient was detected It may be because ofthe low number of the samples. In conclusion, every newborn should bescreened for sickle cell disease to prevent potentially fatal complications ofsickle cell disease and to identify heterozygous individuals in our region wherehemoglobinopathies are very common.Key words: Sickle cell disease, newborn screening, HPLC