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

2015 ◽  
pp. 150424054706008 ◽  
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

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

2015 ◽  
Vol 35 (4) ◽  
pp. 329-332 ◽  
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

Social Work Perspective

PEDIATRICS ◽  
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.

Newborn Screening for Sickle Cell Disease: Effect on Mortality

PEDIATRICS ◽  
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.

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.

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