scholarly journals Trends in mortality and hospital admissions of sickle cell disease patients before and after the newborn screening program in Maranhão, Brazil

2015 ◽  
Vol 37 (1) ◽  
pp. 12-16 ◽  
Author(s):  
Ana Ranoy Gomes Lima ◽  
Valdinar Sousa Ribeiro ◽  
Dario Itapary Nicolau
Keyword(s):  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Hospital Admissions ◽  
Screening Program ◽  
Newborn Screening Program ◽  
Cell Disease ◽  
Before And After

PUBLIC PRESENTATIONS

PEDIATRICS ◽  
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.

scholarly journals Characterization of mortality in children with sickle cell disease diagnosed through the Newborn Screening Program

2015 ◽  
Vol 91 (3) ◽  
pp. 242-247 ◽  
Author(s):  
Alessandra P. Sabarense ◽  
Gabriella O. Lima ◽  
Lívia M.L. Silva ◽  
Marcos Borato Viana
Keyword(s):  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Screening Program ◽  
Newborn Screening Program ◽  
Cell Disease

scholarly journals Characterization of mortality in children with sickle cell disease diagnosed through the Newborn Screening Program

2015 ◽  
Vol 91 (3) ◽  
pp. 242-247
Author(s):  
Alessandra P. Sabarense ◽  
Gabriella O. Lima ◽  
Lívia M.L. Silva ◽  
Marcos Borato Viana
Keyword(s):  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Screening Program ◽  
Newborn Screening Program ◽  
Cell Disease

scholarly journals Newborn Screening for Sickle Cell Disease in St. Vincent and the Grenadines: Results of a Pilot Newborn Screening Program

2017 ◽  
Vol 4 ◽  
pp. 2333794X1773919 ◽  
Author(s):  
Shelly-Ann Williams ◽  
Beneka Browne-Ferdinand ◽  
Ynolde Smart ◽  
Kristen Morella ◽  
Susan G. Reed ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Screening Program ◽  
Newborn Screening Program ◽  
Cell Disease

Results of a multicenter universal newborn screening program for sickle cell disease in Italy: A call to action

2019 ◽  
Vol 66 (5) ◽  
pp. e27657 ◽  
Author(s):  
Raffaella Colombatti ◽  
Maddalena Martella ◽  
Laura Cattaneo ◽  
Giampietro Viola ◽  
Anita Cappellari ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Screening Program ◽  
Newborn Screening Program ◽  
Cell Disease ◽  
Call To Action

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

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.

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

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.

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

2019 ◽  
Vol 153 (1) ◽  
pp. 82-87 ◽  
Author(s):  
Malay B Mukherjee ◽  
Roshan B Colah ◽  
Pallavi R Mehta ◽  
Nikhil Shinde ◽  
Dipty Jain ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
High Performance ◽  
Screening Program ◽  
Point Of Care ◽  
Genetic Disorder ◽  
Cell Disease ◽  
Point Of Care Test ◽  
Tribal Areas

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.

Newborn Screening for Sickle Cell Disease

PEDIATRICS ◽  
1989 ◽  
Vol 83 (4) ◽  
pp. 629-630
Author(s):  
THOMAS GROSS
Keyword(s):  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Critical Review ◽  
Recent Article ◽  
Screening Program ◽  
Cell Disease ◽  
Cumulative Mortality

Vichinsky and colleagues in their recent article concerning the effect on mortality of newborn screening for sickle cell disease claim that "the data indicate that newborn screening, when coupled with extensive follow-up and education, will significantly decrease patient mortality." Critical review of their data, however, does not support this conclusion. Of the 89 patients with sickle cell disease identified in their screening program, one individual died of septicemia for a cumulative mortality of 1.1% (not 1.8% that was quoted).

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