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.

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.

More Efficient Exchange of Sickle Red Blood Cells Can be Achieved By Exchanging the Densest Red Blood Cells

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 3856-3856
Author(s):  
Suzanne Thibodeaux ◽  
Leah Irwin ◽  
Lita Jamensky ◽  
Kevin Schell ◽  
Una O'Doherty
Keyword(s):  
Sickle Cell Disease ◽  
Red Blood Cells ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Blood Cells ◽  
Wild Type ◽  
Cell Disease ◽  
Hemoglobin S ◽  
And Control ◽  
Exchange Parameters

Abstract Background: In sickle cell disease, it is well established that cells containing two mutated hemoglobins (SS) are denser than cells containing wild-type hemoglobin. We asked whether we could more efficiently exchange red blood cells (RBCs) in sickle cell anemia patients by exploiting the denser property of RBCs containing hemoglobin SS compared to wild-type RBCs. Methods: To probe this question, we performed a series of experiments using the waste bags from sickle cell patients as simulated patients. We exchanged the simulated patient with one RBC volume using recently expired ABO compatible RBC units on a COBE Spectra apheresis instrument. We measured hematocrit and hemoglobin S levels in the simulated and control patient bag before and after the exchange. In the experimental scenario, we programmed the COBE Spectra to exchange the bottom half of the RBCs by indicating that the hematocrit was half of the true hematocrit (e.g. 21% when the hematocrit of the bag was 42%). For control exchanges we programmed the COBE Spectra to exchange the entire RBC volume by programing the hematocrit to be the true one (for this example 42%). Results: The percentage of hemoglobin S was more effectively diminished in our modified exchanges that targeted dense RBCs than in control exchanges. Our experimental exchanges were also more effective than expected for a 1 red blood cell volume exchange by Poisson calculation (n=5). In an optimized experiment, hemoglobin S was reduced from 23.7% to 1.3 % after exchanging 1 RBC volume using our modified approach while it was reduced from 23.2 to 5.4% using the control or routine exchange parameters. The same volume of donor RBCs (1 RBC volume) was used to exchange our experimental and control simulations. We obtained a 95% reduction of hemoglobin S in our experimental conditions and a 77% reduction in our control conditions. The instrument was programmed to compensate for RBC depletion with the modified RBC exchange. The compensation is necessary to maintain a constant hematocrit since more RBCs are present in the bottom half than top half of the centrifuged RBCs. Conclusions: It is possible to exchange sickle cell anemia patients more effectively by taking advantage of the fact that RBCs containing hemoglobin SS are denser than normal RBCs. Using waste products from sickle cell anemia exchanges provides an opportunity to safely optimize exchange parameters. This approach should allow us to: 1) achieve a higher reduction in hemoglobin S in patients, 2) achieve the previous levels of reduction using fewer donor units and/or 3) combine red cell exchange with other therapies for sickle cell disease, such as hydroxyurea, by taking advantage of the differential densities and selective depletion of red blood cells containing different levels of hemoglobin F. Disclosures No relevant conflicts of interest to declare.

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 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 Sickle Cell Anemia: A review on the most severe form of Sickle Cell Disease

Bionatura ◽  
2019 ◽  
Vol 02 (Bionatura Conference Serie) ◽  
Author(s):  
María Belén Paredes ◽  
María Eugenia Sulen
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Globin Gene ◽  
Single Point ◽  
Clinical Manifestations ◽  
Severe Form ◽  
Single Point Mutation ◽  
Cell Disease ◽  
Hemoglobin S

Sickle cell disease (SCD) is a group of hereditary disorders caused by a single point mutation in the β-globin gene. This mutation results in the formation of a mutated hemoglobin S (HbS) and the consequent sickle phenotype of erythrocytes. SCD is common in regions of malaria endemicity. However, changes in population dynamics enabled the movement of the mutated gene to other areas such as North America and Europe. Sickle cell anemia (SCA) is the most severe form of SCD and affects millions of people around the globe. The clinical manifestations of SCA arise primarily from the polymerization of deoxygenated hemoglobin S (deoxyHbS) leading to vascular occlusion and hemolytic anemia. Clinical complications of the disease are derived from deoxyHbS polymerization, but there are several therapeutic strategies to reduce the severity of the symptoms. Gene therapy has arisen as a new therapeutic approach aimed to cure rather than to treat the symptomatology of SCA by targeting the altered β-globin gene for gene correction.

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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