Multicenter Evaluation of HemoTypeSC as a Point-of-Care Sickle Cell Disease Rapid Diagnostic Test for Newborns and Adults Across India

Abstract Objectives Sickle cell anemia is the commonest genetic disorder in India, and the frequency of the sickle cell gene is very high in the remote tribal areas where facilities are generally limited. Therefore, a rapid and affordable point-of-care test for sickle cell disease is needed. Methods The diagnostic accuracy of HemoTypeSC was evaluated against automated high-performance liquid chromatography (HPLC) as the gold standard for its efficacy in a newborn screening program. Results A total of 1,559 individuals (980 newborns and 579 adults) from four participating centers were analyzed by both methods. HemoTypeSC correctly identified 209 of 211 total hemoglobin (Hb) SS cases, for a 99.1%/99.9% total HbSS sensitivity/specificity. Overall, HemoTypeSC exhibited sensitivity and specificity of 98.1% and 99.1% for all possible phenotypes (HbAA, HbAS, and HbSS) detected. HPLC is relatively expensive and not available in most laboratories in remote tribal areas. Conclusions We conclude that the rapid, point-of-care testing device HemoTypeSC test is suitable for population and newborn screening for the HbS phenotype.

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Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell Disease

International Journal of Neonatal Screening ◽

10.3390/ijns5010002 ◽

2018 ◽

Vol 5 (1) ◽

pp. 2

Author(s):

Maddalena Martella ◽

Giampietro Viola ◽

Silvia Azzena ◽

Sara Schiavon ◽

Andrea Biondi ◽

...

Keyword(s):

Sickle Cell Disease ◽

Newborn Screening ◽

Molecular Analysis ◽

Sickle Cell ◽

Screening Program ◽

Globin Gene ◽

False Negative ◽

Confirmatory Test ◽

Cell Disease ◽

Technical Issues

A multicenter pilot program for universal newborn screening of Sickle cell disease (SCD) was conducted in two centres of Northern Italy (Padova and Monza). High Performance Liquid Chromatography (HPLC) was performed as the first test on samples collected on Guthrie cards and molecular analysis of the β-globin gene (HBB) was the confirmatory test performed on the HPLC-positive or indeterminate samples. 5466 samples of newborns were evaluated. Of these, 5439/5466 were submitted to HPLC analysis and the molecular analysis always confirmed in all the alteration detected in HPLC (62/5439 newborns); 4/5439 (0.07%) were SCD affected, 37/5439 (0.68%) were HbAS carriers and 21/5439 (0.40%) showed other hemoglobinopathies. Stored dried blood spots were adequate for HPLC and β-globin gene molecular analysis. Samples were suitable for analysis until sixteen months old. A cut-off of A1 percentage, in order to avoid false negative or unnecessary confirmation tests, was identified. Our experience showed that several technical issues need to be addressed and resolved while developing a multicenter NBS program for SCD in a country where there is no national neonatal screening (NBS) program for SCD and NBS programs occur on a regional basis.

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Perceptions and Practice of Early Diagnosis of Sickle Cell Disease by Parents and Physicians in a Southwestern State of Nigeria

The Scientific World JOURNAL ◽

10.1155/2020/4801087 ◽

2020 ◽

Vol 2020 ◽

pp. 1-7

Author(s):

Oladele Simeon Olatunya ◽

Adefunke Olarinre Babatola ◽

Ezra Olatunde Ogundare ◽

Babatunde Ajayi Olofinbiyi ◽

Olubunmi Adeola Lawal ◽

...

Keyword(s):

Genetic Counseling ◽

Sickle Cell Disease ◽

Early Diagnosis ◽

Newborn Screening ◽

Sickle Cell ◽

Screening Program ◽

Universal Coverage ◽

Cell Disease ◽

Cross Sectional ◽

Southwestern State

Background. Early sickle cell disease (SCD) diagnosis has shown promise in combating SCD in many countries. The aim of this study was to assess the practice and perception of early SCD diagnosis among a group of parents and physicians in Nigeria. Patients and Methods. This was a cross-sectional descriptive study conducted to assess the opinions and practice of early diagnosis of SCD among 135 physicians caring for SCD patients and 164 mothers of children with SCD in a southwestern state of Nigeria. Results. Most physicians 132 (97.8%) were aware of prenatal SCD diagnosis, but only 51 (37.8%) would recommend it. Most physicians 129 (95.6%) routinely recommend premarital SCD genetic counseling and testing, and 89 (65.1%) were aware of the national government newborn screening program but lesser proportion 75 (55.6%) were willing to recommend it. Amongst the mothers, 154 (94%) and 158 (96%) had encountered genetic counseling for SCD and were willing to offer newborn screening to their children, respectively. On the contrary, fewer mothers 42 (25%) were aware of prenatal SCD diagnosis, 28 (17%) were willing to partake in it, and 44 (26%) were undecided. There were discrepancies in the willingness by physicians to practice early SCD diagnosis and its uptake by mothers (p<0.0001). The commonest reason given by both the physicians and mothers for not practicing SCD prenatal diagnosis was the high cost of the procedure. Conclusion. The perceptions and practice of early SCD diagnosis was suboptimal in the study locality. Scaling up awareness and universal coverage are required.

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Sickle Cell Disease: Management options and challenges in developing countries

Mediterranean Journal of Hematology and Infectious Diseases ◽

10.4084/mjhid.2013.062 ◽

2013 ◽

Vol 5 (1) ◽

pp. e2013062 ◽

Cited By ~ 23

Author(s):

Daniel Ansong ◽

Alex Osei-Akoto ◽

Delaena Ocloo ◽

Kwaku Ohene-Frempong Ohene-Frempong

Keyword(s):

Developing Countries ◽

Sickle Cell Disease ◽

Newborn Screening ◽

Sickle Cell ◽

Health Care Professionals ◽

Genetic Disorder ◽

Sub Saharan Africa ◽

Acute Chest Syndrome ◽

Cell Disease ◽

Management Options

Sickle Cell Disease (SCD) is the most common genetic disorder of haemoglobin in sub-Saharan Africa. This commentary focuses on the management options available and the challenges that health care professionals in developing countries face in caring for patients with SCD. In developing countries like Ghana, newborn screening is now being implemented on a national scale. Common and important morbidities associated with SCD are vaso-occlusive episodes, infections, Acute Chest Syndrome (ACS), Stroke and hip necrosis. Approaches to the management of these morbidities are far advanced in the developed countries. The differences in setting and resource limitations in developing countries bring challenges that have a major influence in management options in developing countries. Obviously clinicians in developing countries face challenges in managing SCD patients. However understanding the disease, its progression, and instituting the appropriate preventive methods are paramount in its management. Emphasis should be placed on newborn screening, anti-microbial prophylaxis, vaccination against infections, and training of healthcare workers, patients and caregivers. These interventions are affordable in developing countries.

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Newborn Screening for Sickle Cell Disease Using Point-of-Care Testing in Low-Income Setting

PEDIATRICS ◽

10.1542/peds.2018-4105 ◽

2019 ◽

Vol 144 (4) ◽

pp. e20184105 ◽

Cited By ~ 3

Author(s):

Ofelia A. Alvarez ◽

Tally Hustace ◽

Mimose Voltaire ◽

Alejandro Mantero ◽

Ulrick Liberus ◽

...

Keyword(s):

Sickle Cell Disease ◽

Newborn Screening ◽

Sickle Cell ◽

Low Income ◽

Point Of Care ◽

Cell Disease ◽

Point Of Care Testing ◽

Low Income Setting

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PUBLIC PRESENTATIONS

PEDIATRICS ◽

10.1542/peds.83.5.910 ◽

1989 ◽

Vol 83 (5) ◽

pp. 910-910

Author(s):

Deborah D. Henry

Keyword(s):

New York ◽

New York City ◽

Sickle Cell Disease ◽

Newborn Screening ◽

Sickle Cell ◽

York City ◽

Screening Program ◽

Newborn Screening Program ◽

Cell Disease

I am the parent of an 11½-year-old daughter with sickle cell disease. I am aware of the need for a comprehensive newborn screening program for sickle cell disease and other hemoglobinopathies. However, all such programs must be instituted with a follow-up component, and parents should be made aware that such screenings are being done. My daughter was born during the summer of 1975 in New York City. New York City began screening for sickle cell and similar hemoglobinopathies in May 1975, but had no comprehensive follow-up program until 1978. My daughter was not screened nor was I aware of the screening program. I learned of my daughter's condition during a routine well-child clinic visit when she was 6 months of age. I am afraid to think of her outcome had I not been taking her for preventive health care, because before the age of 1 year she experienced one of the most life-threatening crises of a child with sickle cell disease—splenic sequestration. I am pleased to announce that in New York City today, parents are notified in a timely manner of their infant's newborn screening results with information regarding follow-up and counseling services. Two of my immediate family members gave birth to infants with sickle cell trait. They were informed of their infants' results within 2 weeks after their babies' births, and were given concrete information and recommendations for follow-up genetic services. I know a comprehensive newborn screening program will prevent mortality in infants found to have sickle cell disease and related hemoglobinopathies.

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Newborn Screening for Sickle Cell Disease

PEDIATRICS ◽

10.1542/peds.83.4.629a ◽

1989 ◽

Vol 83 (4) ◽

pp. 629-630

Author(s):

THOMAS GROSS

Keyword(s):

Sickle Cell Disease ◽

Newborn Screening ◽

Sickle Cell ◽

Critical Review ◽

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

International Journal of Neonatal Screening ◽

10.3390/ijns4040039 ◽

2018 ◽

Vol 4 (4) ◽

pp. 39 ◽

Cited By ~ 1

Author(s):

Claudia Frömmel

Keyword(s):

Capillary Electrophoresis ◽

Sickle Cell Disease ◽

Newborn Screening ◽

Sickle Cell ◽

Isoelectric Focusing ◽

High Performance ◽

Short Review ◽

Health Concern ◽

Cell Disease ◽

Laboratory Methods

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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