Newborn Screening for Sickle Cell Disease: Effect on Mortality

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 834-834
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 ◽  
Screening Programs ◽  
Hb S ◽  
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. Hb Bait's 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 Hb 55, 25 Hb FSC, three Hb S-β+-thalassemia, and three Hb S-β°-thalassemia). In addition, one in every 4,233 newborns had a clinically significant thalassemia syndrome (eight Hb FE, ten Hb F only, two Hb 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 up 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 up 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.

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 Newborn Screening for Sickle Cell Disease: Indian Experience

2018 ◽  
Vol 4 (4) ◽  
pp. 31 ◽  
Author(s):  
Roshan Colah ◽  
Pallavi Mehta ◽  
Malay Mukherjee
Keyword(s):  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Screening Program ◽  
Clinical Manifestations ◽  
Public Health Problem ◽  
Major Public Health Problem ◽  
Cell Disease ◽  
Screening Programs

Sickle cell disease (SCD) is a major public health problem in India with the highest prevalence amongst the tribal and some non-tribal ethnic groups. The clinical manifestations are extremely variable ranging from a severe to mild or asymptomatic condition. Early diagnosis and providing care is critical in SCD because of the possibility of lethal complications in early infancy in pre-symptomatic children. Since 2010, neonatal screening programs for SCD have been initiated in a few states of India. A total of 18,003 babies have been screened by automated HPLC using either cord blood samples or heel prick dried blood spots and 2944 and 300 babies were diagnosed as sickle cell carriers and SCD respectively. A follow up of the SCD babies showed considerable variation in the clinical presentation in different population groups, the disease being more severe among non-tribal babies. Around 30% of babies developed serious complications within the first 2 to 2.6 years of life. These pilot studies have demonstrated the feasibility of undertaking newborn screening programs for SCD even in rural areas. A longer follow up of these babies is required and it is important to establish a national newborn screening program for SCD in all of the states where the frequency of the sickle cell gene is very high followed by the development of comprehensive care centers along with counselling and treatment facilities. This comprehensive data will ultimately help us to understand the natural history of SCD in India and also help the Government to formulate strategies for the management and prevention of sickle cell disease in India.

scholarly journals Physiological properties and characteristic reactions of hydroxyurea

2020 ◽  
Vol 22 (100) ◽  
pp. 94-102
Author(s):  
O. G. Demchuk ◽  
M. R. Hrytsyna ◽  
L. O. Kobryn ◽  
M. B. Kalytovska ◽  
B. V. Gutyj
Keyword(s):  
Sickle Cell Disease ◽  
Life Expectancy ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Genetic Disorder ◽  
Acute Chest Syndrome ◽  
Cell Disease ◽  
Transfusion Therapy ◽  
Erythroid Precursors ◽  
Hb S

As it was mentioned in the previous paper, we observed the mechanism of action the interesting drug, first synthesized back in 1869 for the first time, called Hydroxyurea. A century later, phase I and II trials began to test its safety in humans with solid tumors. It was first approved by the FDA in 1967 for the treatment of neoplastic diseases and is presently approved for the treatment of melanoma, resistant chronic myelocytic leukemia (CML), and recurrent, metastatic testicular and ovarian cancer. Sickle cell disease is a genetic disorder that decreases life expectancy by 25 to 30 years. Individuals are diagnosed with sickle cell disease if they have one of several genotypes that result in at least half of their hemoglobin being hemoglobin S (HbS). Sickle cell anemia refers specifically to the condition associated with homozygosity for the Hb S mutation (Hb SS). Several other hemoglobin mutations, when occurring with an Hb S mutation, cause a similar but often milder disease than sickle cell anemia. In addition to reduced life expectancy, patients with sickle cell disease experience chronic pain and reduced quality of life. Painful crises, also known as vaso-occlusive crises, are the most common reason for emergency department use and hospitalization, and acute chest syndrome is the most common cause of death. Prior to the approval of hydroxyurea for use in sickle cell disease, patients with this condition were treated only with supportive therapies. These measures included penicillin in children to prevent pneumococcal disease, routine immunizations, and hydration and narcotic therapy to treat painful events. Red blood cell transfusions increase the blood’s oxygen carrying capacity and decrease the concentration of cells with abnormal hemoglobin, but chronic transfusion therapy predictably leads to iron overload and alloimmunization. Therapies such as hydroxyurea that raise fetal hemoglobin (Hb F, α2γ2) levels are promising because they effectively lower the concentration of Hb S within a cell, resulting in less polymerization of the abnormal hemoglobin.Hydroxyurea’s efficacy in sickle cell disease is generally attributed to its ability to raise the levels of Hb F in the blood; however, the mechanisms by which it does so are unclear. Early studies suggested that hydroxyurea is cytotoxic to the more rapidly dividing late erythroid precursors, resulting in the recruitment of early erythroid precursors with an increased capacity to produce HbF.

scholarly journals Regulation of Fetal and Adult Hemoglobin Formation in Patients with Sickle Cell Disease Transfused to Normal Hematocrits

Blood ◽  
1967 ◽  
Vol 29 (1) ◽  
pp. 126-133 ◽  
Author(s):  
THOMAS G. GABUZDA ◽  
FRANK H. GARDNER ◽  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Control Mechanisms ◽  
Cell Disease ◽  
Short Term ◽  
Hemoglobin Synthesis ◽  
Hb S ◽  
Adult Hemoglobin

Abstract Two patients with sickle cell anemia and one patient with sickle thalassemia were acutely transfused to normal hemoglobin levels. The synthesis of fetal and adult (in this instance, Hb S) hemoglobins was assessed in cohorts of reticulocytes emerging during the period of erythroid suppression which followed. In two patients observations were also made during the period of recovery from the suppression. Hemoglobin synthesis in the reticulocytes was assessed by means of in vitro incorporation of C14-labeled leucine into the separate hemoglobins. The results in all three patients suggested that both fetal and adult hemoglobin synthesis are under similar physiologic control mechanisms during short-term alterations in the state of erythropoiesis; the formation of both was almost completely stopped soon after transfusion, and both were almost simultaneously reactivated as the patients returned to the anemic state.

scholarly journals Perspectives on building sustainable newborn screening programs for sickle cell disease: Experiences from Tanzania

2020 ◽  
Author(s):  
Daima Bukini ◽  
Siana Nkya ◽  
Sheryl McCurdy ◽  
Columba Mbekenga ◽  
Karim Manji ◽  
...  
Keyword(s):  
Health Care ◽  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Health Care Providers ◽  
Local Level ◽  
Comprehensive Care ◽  
Care Providers ◽  
Cell Disease ◽  
Screening Programs

1.0AbstractPrevalence of Sickle Cell Disease is high in Africa, with significant public health effects to the affected countries. Many of the countries with the highest prevalence of the disease also have poor health care system, high burden of infectious diseases with many other competing healthcare priorities. Though, considerable efforts have been done to implement newborn screening for Sickle Cell Disease programs in Africa but still coverage is low. Tanzania has one of the highest birth prevalence of children with Sickle Cell Disease in Africa. Also, it is one of many other African countries to implement pilot projects for Newborn Screening for Sickle Cell Disease to assess feasibility. Several efforts have been made afterwards to continue providing the screening services as well as comprehensive care for Sickle Cell Disease. Using qualitative methods, we conducted In- Depth Interviews and Focus Group Discussions with policy makers, health care providers and families to provide an analysis of their experiences and perspectives on efforts to expand and sustain Newborn Screening for Sickle Cell Disease and related comprehensive care services in the country. Findings have demonstrated both the opportunities and challenges in the implementation and sustainability of the services in low resource settings. A key area of strengthening is full integration of the services in countries’ health care systems to facilitate coverage, accessibility and affordability of the services. However, efforts at the local level to sustain the programs are encouraging and can be used as a model in other programs implemented in low resources settings.

scholarly journals Newborn Screening Programs and Sickle Cell Disease

2016 ◽  
Vol 51 (1) ◽  
pp. S39-S47 ◽  
Author(s):  
Cynthia S. Minkovitz ◽  
Holly Grason ◽  
Marjory Ruderman ◽  
James F. Casella
Keyword(s):  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Cell Disease ◽  
Screening Programs

scholarly journals Is there a role for selective vasodilation in the management of sickle cell disease?

Blood ◽  
1988 ◽  
Vol 71 (3) ◽  
pp. 597-602 ◽  
Author(s):  
GP Rodgers ◽  
MS Roy ◽  
CT Noguchi ◽  
AN Schechter
Keyword(s):  
Blood Flow ◽  
Steady State ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Microvascular Obstruction ◽  
Controlled Study ◽  
Control Group ◽  
Cell Disease ◽  
Retinal Arteriolar

Abstract To test the hypothesis that microvascular obstruction to blood flow at the level of the arteriole may be significant in individuals with sickle cell anemia, the ophthalmologic effects of orally administered nifedipine were monitored in 11 steady-state patients. Three patients with evidence of acute peripheral retinal arteriolar occlusion displayed a prompt reperfusion of the involved segment. Two other patients showed fading of retroequatorial red retinal lesions. Color vision performance was improved in six of the nine patients tested. The majority of patients also demonstrated a significant decrease in the amount of blanching of the conjunctiva which reflects improved blood flow to this frequently involved area. Such improvements were not observable in a control group of untreated stable sickle cell subjects. These findings support the hypothesis that inappropriate vasoconstriction or frank vasospasm may be a significant factor in the pathogenesis of the microvascular lesions of sickle cell disease and, further, that selective microvascular entrapment inhibition may offer an additional strategy to the management of this disorder. We believe a larger, placebo-controlled study with nifedipine and similar agents is warranted.

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