ArticleMediterranean journal of hematology and infectious diseases2019
The Use of HPLC as a Tool for Neonatal Cord Blood Screening of haemoglobinopathy: A Validation Study.
Article in Mediterranean journal of hematology and infectious diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 12 citations in OpenAlex.
- Protocol for a Multicentric Cohort Study on Neonatal Screening and Early Interventions for Sickle Cell Disease Among High-Prevalence States of India.Diagnostics (Basel, Switzerland) · 2025Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Sickle Cell Anemia Screening in Newborns and Analysis of Haplotypes in Patients from Santiago Island, Cape Verde.Anemia · 2024Article
- Screening of Dry Blood Spots from Newborns by Two High Performance Liquid Chromatography (HPLC) Systems: A Comparison of Their Ability to Diagnose Both Sickle and Non-sickle Hemoglobinopathies.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2021Article
- Importance of DNA Sequencing for Abnormal Hemoglobins Detected by HPLC ScreeningTurkish journal of haematology : official journal of Turkish Society of Haematology · 2020Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNewborn cord blood screening identifies infants with underlying haemoglobinopathies before they develop the characteristic symptoms or sequelae.
aimsThis study was performed to validate the interpretation high-performance chromatography (HPLC) along with complete blood count (CBC) results as a tool for universal neonatal screening of hemoglobin disorders in Oman.
methodsHPLC and CBC data on subjects who participated in the National Neonatal screening program at birth were obtained from archival records. The results recorded at birth were compared with a second study performed on the same subjects, after approval from the local medical research and ethics committee.
resultsOnly 290 subjects from amongst the original cohort of 3740 newborns could be recalled between April 2010 to March 2011, to repeat HPLC and CBC, as well as perform confirmatory DNA studies, wherever necessary. All these subjects had been documented to show an initial abnormal result. 31 cases who had no HbA at birth on HPLC were confirmed as either homozygous β-thalassaemia major (n=5 subjects) or homozygous sickle cell anemia (n=26 subjects) by appropriate DNA analysis. Additionally, amongst 151 subjects, 72 subjects were studied in the initial study by Hb Bart's quantitation using the alpha thalassaemia short program at birth. In this cohort, 42 subjects with Hb Bart's >1% at birth could be confirmed as having either deletional or non-deletional thalassaemia by GAP PCR studies. No case of HbH was detected in this cohort. Further, carrier status for structural hemoglobin variants (HbS, HbC, HbD, HbE) (n=67) and beta thalassaemia allele with low HbA at birth (n=29 out of 41) were confirmed by relevant molecular studies.
conclusionsThe study validated the earlier observation by 100% concordance with the results of CBC and HPLC. Presence of Hb Bart's at birth does not always mean the presence of alpha thalassemia, as subjects with Hb Bart's below 1% by quantitation, were shown to be normal by molecular studies.
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