Screening of Haemoglobinopathies by HPLC (High Performance Liquid Chromatography) Method in Newborns.

Abstract

Background: Haemoglobinopathies place a large burden on the patients, their families, and even on their communities. They are generally not curable but can be prevented by population screening and genetic counselling. Early initiation of supportive care for infants with hemoglobinopathies such as sickle cell disease and thalassemia have been shown to decrease mortality and morbidity. To assess the pattern of Haemog Aims: lobinopathies by HPLC (High Performance Liquid Chromatography) method in New-borns in a tertiary care centre and to classify them into Sickle cell disorder and other hemoglobinothies. Settings and design: Observational cross-sectional study. Material And Methods: Total 581 samples of every full term newborn's samples for routine hematological investigation were taken into account for the screening for complete blood count, peripheral smear and HPLC. Pattern of haemoglobins on Newborn screening by HPLC was interpreted according to NBS criteria. Statistical analysis was done using MedCalc software. Results: A total of 581 cases were studied. Out of these, 577 cases displayed normal “FA” pattern of chromatogram on HPLC. Four cases displayed abnormal hemoglobin fractions on HPLC. The major abnormality observed was S-window in all four cases. Parents of Positive cases were also screened by HPLC. Three out of four mothers showed sickle cell trait; and one patient's mother and father; both showed sickle cell trait. We concluded that neonates with or without any positive Conclusion: history of haemoglobinopathies should be screened at birth as we found 0.69% frequency of SCA in screening done in normal population.