Newborn screening in Nigeria: Will incorporating congenital hypothyroidism with sickle cell disease improve neonatal screening programme?

Objective To establish the birth prevalence of sickle cell disease in Grenada, with a view to assess the requirement for a population-based neonatal screening programme. Methods A two-year pilot neonatal screening programme, involving the Ministry of Health of Grenada, the Sickle Cell Association of Grenada, and the diagnostic laboratory of hemoglobinopathies of the University Hospital of Guadeloupe, was implemented in 2014–2015 under the auspices of the Caribbean Network of Researchers on Sickle Cell Disease and Thalassemia. Results Analysis of 1914 samples processed identified the following abnormal phenotypes: 10 FS, 2 FSC, 183 FAS, 63 FAC. These data indicate βs and βc allele frequencies of 0.054 and 0.018, respectively. Conclusion Neonatal screening conducted in the framework of this Caribbean cooperation can allow rapid detection and earlier management of affected children.

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Survival of children with sickle cell disease in the comprehensive newborn screening programme in Minas Gerais, Brazil

Paediatrics and International Child Health ◽

10.1179/2046905515y.0000000001 ◽

2015 ◽

pp. 150424054706008 ◽

Cited By ~ 2

Author(s):

Alessandra Palhoni Sabarense ◽

Gabriella Oliveira Lima ◽

Lvia Maria Lellis Silva ◽

Marcos Borato Viana

Keyword(s):

Sickle Cell Disease ◽

Newborn Screening ◽

Sickle Cell ◽

Screening Programme ◽

Minas Gerais ◽

Cell Disease ◽

Newborn Screening Programme

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Update: Newborn Screening for Sickle Cell Disease—California, Illinois, and New York, 1998

JAMA ◽

10.1001/jama.284.11.1373 ◽

2000 ◽

Vol 284 (11) ◽

pp. 1373 ◽

Cited By ~ 2

Keyword(s):

New York ◽

Sickle Cell Disease ◽

Newborn Screening ◽

Sickle Cell ◽

Cell Disease

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Newborn screening for sickle cell disease: necessary but not sufficient

Jornal de Pediatria ◽

10.1016/j.jped.2015.01.002 ◽

2015 ◽

Vol 91 (3) ◽

pp. 210-212 ◽

Cited By ~ 4

Author(s):

Winfred C. Wang

Keyword(s):

Sickle Cell Disease ◽

Newborn Screening ◽

Sickle Cell ◽

Cell Disease

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Social Work Perspective

PEDIATRICS ◽

10.1542/peds.83.5.903 ◽

1989 ◽

Vol 83 (5) ◽

pp. 903-905

Author(s):

Sandra Hernandez

Keyword(s):

New York ◽

Chronic Illness ◽

Sickle Cell Disease ◽

Newborn Screening ◽

Sickle Cell ◽

New York State ◽

Early Years ◽

Cell Disease ◽

York State ◽

The Impact

The ultimate objective of newborn screening for sickle cell disease should be twofold. The first essential step is the identification of the infants at risk. This has been effectively done in New York state as of 1975 through the New York State Newborn Screening Program. However, identifying these children is not enough. Second is the much more complicated task of providing comprehensive follow-up care for families whose children are affected by the disease, including the much needed psychosocial services. This area continues to be sorely neglected. The increased risk of death due to overwhelming infection in the first 3 years of life for children with sickle cell disease has been noted in the literature. When there is no specialized care, 15% to 20% do not survive. Therefore, it is essential for knowledgeable staff to make contact and begin to develop a trusting relationship as soon as possible with parents of infants born with sickle cell disease. Prophylactic penicillin and pneumococcal vaccination can reduce mortality during the early years. Family involvement with a consistent, available team of health care providers is pivotal in understanding this chronic illness and coping effectively with this extraordinary stress. Our staff is available by telephone for consultations with patients or other medical staff during clinic and emergency room visits and hospitalizations. One element that is clear in our experience at the St Luke's-Roosevelt Hospital Sickle Cell Center in New York City is that adjustment to this chronic illness is a lifelong process. One or two counseling sessions at the time of diagnosis are not sufficient to enable families to fully understand the information given or to realize the impact of having a child with a chronic illness.

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Newborn Screening for Sickle Cell Disease: Effect on Mortality

PEDIATRICS ◽

10.1542/peds.81.6.749 ◽

1988 ◽

Vol 81 (6) ◽

pp. 749-755

Author(s):

Elliott Vichinsky ◽

Deborah Hurst ◽

Ann Earles ◽

Klara Kleman ◽

Bertram Lubin

Keyword(s):

Sickle Cell Disease ◽

Mortality Rate ◽

Newborn Screening ◽

Sickle Cell ◽

Sickle Cell Anemia ◽

Comprehensive Treatment ◽

Cell Disease ◽

Hemoglobin S ◽

Screening Programs ◽

Overall Mortality

Newborn screening for sickle cell disease has been recommended as a method of decreasing patient mortality. However, its effectiveness in accomplishing this has not been reliably measured. To help determine the effectiveness, 10 years of experience in newborn screening have been summarized. The effects of early patient enrollment in a comprehensive treatment program on long-term morbidity and mortality are reported. From 1975 to 1985, 84,663 newborns were screened regardless of race or ethnic background. Bart's hemoglobin was present in 5%, hemoglobin AS in 2.6%, and hemoglobin AC in 0.75%. Excluding Bart's, approximately 3.6% of all newborns were carriers for hemoglobinopathy. Sickle cell disease occurred in 1:951 births (58 hemoglobin SS, 25 hemoglobin FSC, three hemoglobin S-β+-thalassemia, and three hemoglobin S-β°-thalassemia). In addition, one in every 4,233 newborns had a clinically significant thalassemia syndrome (eight hemoglobin FE, ten hemoglobin F only, two hemoglobin H). Compared with other newborn screening programs in California, (congenital hypothyroidism, 1:3,849; phenylketonuria 1:22,474, galactosemia 1:74,103), hemoglobinopathies are the most prevalent congenital disease. Eighty-one newborns with sickle cell disease were followed for 7.2 years. Patients experienced 513 hospitalizations, including 13 episodes of sepsis with or without meningitis and ten acute sequestration crises. The overall mortality rate for patients with sickle cell anemia diagnosed in the newborn period was 1.8%. In comparison, the clinical course of 64 patients with sickle cell anemia diagnosed after 3 months of age and followed for an average of 9.4 years was analyzed. Five of these patients died. In two of these, sickle cell anemia was diagnosed at the time of the death. Overall mortality rate in this group was 8%. In summary, the data indicate that newborn screening, when coupled with extensive follow-up and education, will significantly decrease patient mortality.

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Newborn screening for sickle cell disease: public health impact and evaluation

Genetics and Public Health in the 21st Century ◽

10.1093/acprof:oso/9780195128307.003.0022 ◽

2000 ◽

pp. 431-446 ◽

Cited By ~ 2

Author(s):

Richard S. Olney

Keyword(s):

Public Health ◽

Sickle Cell Disease ◽

Newborn Screening ◽

Sickle Cell ◽

Health Impact ◽

Public Health Impact ◽

Cell Disease

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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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