Comparative analysis of the role of isoelectric focusing and high-performance liquid chromatography in newborn screening in hemoglobinopathies
Journal Title: Indian Journal of Child Health - Year 2018, Vol 5, Issue 9
Abstract
Introduction: Hemoglobinopathies are the common genetic disorders and are considered as the emerging health burden. To reduce the childhood and infant mortality and morbidity, early recognition by newborn screening and timely intervention is necessary. Objectives: The objectives of this study are to evaluate the prevalence of different hemoglobinopathies in the study population and to compare the efficacy of isoelectric focusing (IEF) and high-performance liquid chromatography (HPLC) tests in the neonatal screening for hemoglobinopathies. We have also assessed the predominant mutations for all β-thalassemia variants. Materials and Methods: The prospective observational study was conducted in the Department of Pathology in collaboration with the Department of Neonatology over 1½ years including 4200 neonates. Both IEF and HPLC diagnoses were attempted and compared with recall HPLC and parent HPLC. DNA analysis was also done further confirmation in all thalassemia cases. Results: A total of 213 cases with 11 Hb variants were detected; among them, HbE trait was the most prevalent type. Overall sensitivity, specificity, and negative and positive predictive values were noted. The results of IEF were comparable with HPLC with a statistically significant measure of agreement of κ=0.928 between the two. DNA analysis of 37 β-thalassemia variants revealed three common mutations, i.e., cd26 (G>A), IVS1-5 (G>C), and cd15 (G>A). Conclusion: In IEF, the hemoglobin separation is very precise with little band overlap, but the process and interpretation need a high expertise. Due to more sensitivity, IEF should be the initial screening test followed by recall HPLC for confirmation of the diagnosis.
Authors and Affiliations
Nikhil Kumar, Moumita Sengupta, Mousumi Kar, Chhanda Datta, Suchandra Mukherjee, Uttara Chatterjee, Dhrubaneel Biswas
Keywords
Related Articles
- EP ID EP472217
- DOI -
- Views 78
- Downloads 0
Effectiveness of an intensive lifestyle modification program in reducing the weight of obese children aged 12-18 years
Objective: To find out the effectiveness of an intensive lifestyle modification program in reducing the weight of obese children aged 12-18 years. Material and Methods: Quasi-experimental single group pre-test/post-test...
Study of serum vitamin B12 levels in pregnant mothers and their newborns and its relation to growth of the infants
Introduction: The effect of vitamin B12 deficiency in pregnancy on the growth of infants has not been properly studied. Objectives: To study the correlation of vitamin B12 levels in pregnant mothers with vitamin B12 leve...
Use of furosemide stress test for edema control and predicting acute kidney injury in children with nephrotic syndrome
Background: Furosemide stress test (FST) involves measurement of 2‑h urine output after giving 1 mg/kg of furosemide in clinically euvolemic patients and has been shown to identify those with severe and progressive acute...
Study of health status and morbidity pattern in 5-18 years Birhor children: A primitive tribe of Chhattisgarh
Background: A 5-18 years children constitute about 31.6% of the Indian population. This age group, particularly children of underprivileged class are at higher risk to suffer from malnutrition and health-related conditio...
Neonatal sepsis: Risk factors, clinical and bacteriological profile, and antibiotic sensitivity
Background: Neonatal sepsis (NS) is a cause of very high morbidity and mortality. Reviews of bacterial spectrum and antimicrobial susceptibility help to treat NS and to develop strategies to lower neonatal mortality. Obj...