Newborn screening for haemoglobinopathies by high performance liquid chromatography (HPLC): diagnostic utility of different approaches in resource-poor settings

Upadhye, Dipti; Jain, Dipty; Trivedi, Yogesh L.; Nadkarni, Anita; Ghosh, Kanjaksha; Colah, Roshan

doi:10.1515/cclm-2014-0452

Cited by 9 publications

(5 citation statements)

References 25 publications

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“…Mothers who delivered a live baby at the GMC, Nagpur, between October 2009 and August 2011, were recruited for newborn screening study during the first 48 hr of their postpartum period . The institutional ethics committees approved the study.…”

Section: Methodsmentioning

confidence: 99%

See 1 more Smart Citation

Clinical events in a large prospective cohort of children with sickle cell disease in Nagpur, India: evidence against a milder clinical phenotype in India

Jain

Arjunan

Sarathi

et al. 2016

Pediatric Blood & Cancer

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Section: Methodsmentioning

confidence: 99%

“…October 2009 and August 2011, were recruited for newborn screening study during the first 48 hr of their postpartum period. 42 The institutional ethics committees approved the study. Subjects were enrolled in the study after obtaining written informed consent.…”

Section: Newborn Screening Cohortmentioning

confidence: 99%

Clinical events in a large prospective cohort of children with sickle cell disease in Nagpur, India: evidence against a milder clinical phenotype in India

Jain

Arjunan

Sarathi

et al. 2016

Pediatric Blood & Cancer

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“…Newborn thalassemia screening can be achieved mainly on the separation and measurement of the hemoglobin fractions using high‐performance liquid chromatography (HPLC), capillary electrophoresis (CE), or isoelectric focusing (IEF) 7‐11 . All types of α‐thalassemia cause the formation of γ 4 (Hb Bart's) tetramers at birth, making it an ideal screening target and widely used 12,13 .…”

Section: Introductionmentioning

confidence: 99%

Application of an optimized interpretation model in capillary hemoglobin electrophoresis for newborn thalassemia screening

Zou

Huang

et al. 2021

Int J Lab Hematology

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Introduction Newborn screening is an important supplement to thalassemia control and prevention. Capillary electrophoresis (CE) technology has several advantages for thalassemia screening but with low sensitivity, especially for thalassemia carriers. This study aims to illustrate the application of an optimized interpretation model in newborn thalassemia screening by capillary hemoglobin electrophoresis. Methods Two thousand, two hundred fifty‐eight neonates selected from four regions in China were enrolled and were screened for α‐thalassemia and β‐thalassemia by capillary electrophoresis. Results were interpreted based on an optimized model integrated with multiple parameters. Molecular analysis was carried out in synchrony and used as the gold standard for the screening performance assessment. The consistency among different regions and thalassemia genotypes were also investigated. Results Among the 2258 neonates, 485 were identified to have a likely diagnosis of thalassemia, and 422 α‐thalassemia, 80 β‐thalassemia, and 21 α/β‐thalassemia cases were confirmed by molecular analysis, including 277 α‐thalassemia silent carriers, 135 α‐thalassemia trait carriers, 10 Hemoglobin H disease, and 80 β‐thalassemia trait carriers. The screening sensitivity, specificity, positive, and negative predictive value for α‐thalassemia and β‐thalassemia were 84.83%, 99.14%, 95.98%, 96.41%, and 88.75%, 98.73%, 76.34%, and 99.48%, respectively. The optimized interpretation model showed higher performance for thalassemia carriers, though some neonates with silent α‐thalassemia genotypes (‐α3.7/αα, ‐α4.2/αα, and αWSα/αα) and β‐28/βN genotype were still missed. The screening performance among different regions was comparable. Conclusions Capillary hemoglobin electrophoresis with the optimized interpretation model shows reliable performance for newborn thalassemia screening. It is applicable to large‐scale population screening.

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“…Automated cation-exchange high-performance liquid chromatography (HPLC) is a widely used method to screen for hemoglobinopathies with a clear separation and quantification of hemoglobin fractions [ 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 ]. The method is based on the elution of hemoglobin bound to a solid phase over time by buffers with a pH gradient.…”

Section: Technologiesmentioning

confidence: 99%

Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies: A Short Review on Classical Laboratory Methods—Isoelectric Focusing, HPLC, and Capillary Electrophoresis

Frömmel

2018

IJNS

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Sickle cell disease (SCD) and other hemoglobinopathies are a major health concern with a high burden of disease worldwide. Since the implementation of newborn screening (NBS) for SCD and other hemoglobinopathies in several regions of the world, technical progress of laboratory methods was achieved. This short review aims to summarize the current practice of classical laboratory methods for the detection of SCD and other hemoglobinopathies. This includes the newborn screening technologies of high-performance liquid chromatography (HPLC), capillary electrophoresis (CE), and isoelectric focusing (IEF).

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Newborn screening for haemoglobinopathies by high performance liquid chromatography (HPLC): diagnostic utility of different approaches in resource-poor settings

Abstract: The β-thal short kit was more versatile than the sickle cell short kit for screening for haemoglobinopathies in newborns in our population.

Cited by 9 publications

References 25 publications

Clinical events in a large prospective cohort of children with sickle cell disease in Nagpur, India: evidence against a milder clinical phenotype in India

Clinical events in a large prospective cohort of children with sickle cell disease in Nagpur, India: evidence against a milder clinical phenotype in India

Application of an optimized interpretation model in capillary hemoglobin electrophoresis for newborn thalassemia screening

Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies: A Short Review on Classical Laboratory Methods—Isoelectric Focusing, HPLC, and Capillary Electrophoresis

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