scholarly journals A Policy Impact Analysis of the Mandatory NCAA Sickle Cell Trait Screening Program

2011 ◽  
Vol 47 (1pt2) ◽  
pp. 446-461 ◽  
Author(s):  
Beth A. Tarini ◽  
Margaret Alison Brooks ◽  
David G. Bundy
PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 858-860
Author(s):  
Mary S. Harris ◽  
James R. Eckman

Georgia's newborn screening program for hemoglobinopathies has been evolving for more than 23 years. The program began in 1964 with the screening of infants at 6 months of age and progressed to the full-scale implementation of a statewide hemoglobinopathy newborn screening program in 1980. The program functions as a cooperative effort with several major components: two tertiary care centers, a community-based clinic, and the state public health department. The tertiary care centers consist of the Augusta Comprehensive Sickle Cell Center affiliated with the Medical College of Georgia and the Georgia Sickle Cell Center at Grady Hospital affiliated with Emory University School of Medicine. These two centers are responsible for patient care, education, and research. The community component consists of the Sickle Cell Foundation of Georgia, which is responsible for counceling clients with sickle cell trait, community education, and notification of parents of infants with normal test results. The state component consists of the Georgia Department of Human Resources, which is responsible for program administration and primary laboratory testing. The program components coordinate their services through a voluntary organization known as the Georgia Sickle Cell Task Force. The organization consists of representatives from agencies and organizations actively involved in the provision of services for patients with sickle cell disease. The members of this organization work together to ensure an efficient service network for education, testing, counseling, patient management, program monitoring, and evaluation. Georgia's screening program can best be described as a targeted, voluntary, mandatory screening program, which means that, unless the mother objects to having her infant tested on religious grounds, infants in 13 ethnic groups are automatically tested because they are considered at risk (African, Arabian, Central American, Greek, Maltese, Hispanic, Indian, Portuguese, Puerto Rican, Sardinian, Sicilian, South American, and Southern Asian).


2021 ◽  
Vol 11 (10) ◽  
pp. 980
Author(s):  
Najat Rouh AlDeen ◽  
Asmaa A Osman ◽  
Monira J Alhabashi ◽  
Rasha Al Khaldi ◽  
Hassan Alawadi ◽  
...  

This study aims to estimate the prevalence rates of β-thalassemia and Sickle cell disorders in the adult population screened (n = 275,819) as part of the Kuwaiti National Premarital Screening Program. All the individuals who applied for a marriage license during the years 2009 and 2020 were covered by the program. A network of four reception centers in the Ministry of Health facilities and one Premarital Diagnostic Laboratory (PDL) in Maternity Hospital were involved in performing all investigations for hemoglobinopathies. The total number of individuals identified with β-thal trait was 5861 (2.12%), while 22 individuals (0.008%) were diagnosed with β-thal disease. A total of 5003 subjects (1.81%) were carrying the Sickle cell trait, while 172 subjects (0.062%) had Sickle cell disease including Sickle cell anemia (SCA). Results showed that the program succeeded indeed in preventing the marriage of 50.4% of risky couples by issuing unsafe marriage certificates. Yet more efforts are needed to improve the program’s main objective of decreasing high-risk marriages. In particular, health care systems should be ameliorated in a way to intensify the counselling mechanism for the high-risk couples, strengthen the awareness of the general population and induce earlier age screening policies.


2019 ◽  
Vol 35 (6) ◽  
Author(s):  
Hassan Abdu Hamali ◽  
Muhammad Saboor

Objectives: To evaluate the prevalence of undiagnosed hemoglobinopathies among individuals visiting the premarital screening Centre. Methods: This study was conducted at Premarital Screening Centre, King Fahad Central Hospital and Research Centre, Jazan, between January 2018 and October 2018. A total of 3,970 (male n =1,859 and female n = 2,111) individuals were included in the study. Data of complete blood count, hemoglobin electrophoresis and sickling tests of all individuals recruited in the study were obtained and statistically analyzed. Results: One thousand three hundred and twelve individuals had abnormal complete blood counts or hemoglobin electrophoresis results, that include sickle cell trait (13.5%), sickle cell disease (0.7%), β thalassemia with sickle cell trait (2.46%), β thalassemia trait (1.51%), β thalassemia major (0.075%), suspected α thalassemia or other hemoglobinopathies (4.43%), hemoglobin H (0.3%), hemoglobin E (0.075%), undiagnosed cases (0.91%) and iron deficient (7.23%). Conclusion: A high percentage of individuals are suspected for α thalassemia or other hemoglobinopathies that needs to be diagnosed. Further investigations shall be included in the premarital screening program to diagnose these inconclusive cases. Coexistence iron deficiency with thalassemia shall also be ruled out during premarital screening program. doi: https://doi.org/10.12669/pjms.35.6.976 How to cite this:Hamali HA, Saboor M. Undiagnosed Hemoglobinopathies: A potential threat to the premarital screening program. Pak J Med Sci. 2019;35(6):1611-1615.  doi: https://doi.org/10.12669/pjms.35.6.976 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 1064-1064
Author(s):  
Belinda Pinto Simoes ◽  
George B Navarro ◽  
Fabiano Pieroni ◽  
Luiz G Darrigo ◽  
Daniela Moraes ◽  
...  

Abstract Abstract 1064 Introduction: Sickle Cell Diseases (SCD) are the most frequent inherited monogenic diseases worldwide. Data from the neonatal screening program showed that about 4% of the brazilian population harbors the sickle cell trait, reaching until 10% in the afro-brazilians. In the northern states of Brazil this frequency is much higher, as an example in Bahia 1/17 births are of children with sickle cell trait. The neonatal screening program doesn't cover the whole country so the estimate of about 3500 newborns with SCD per year in Brazil is certainly underestimated. Nevertheless the first official document regarding the treatment of these patients was published by the brazilian ministry of health only in 2004. Hydroxiurea (HU) is already used in more severe forms of SCD by the public health system since several years but is not available for all patients yet. In a recent publication Machado et al (ASH 2010 #843) demonstrated for the first time that HU can prolong survival in SCD, although the mortality rate for this disease is still high in Brazil. Stem Cell Transplanation (SCT) is the only available curative treatment for the inherited hemoglobinopathies, in spite of this there is no such program for SCD in Brazil. Here we describe the first brazilian cases transplanted in 5 brazilian centers of severely affected patients with no other treatment options not responding to HU. Patients and Methods: Sixtheen patients (15 HbSS, 1 case Sbeta thalassemia), median age 16 years (3–39), all except for one with HLA identical sibling donors (3 donors with sickle cell trait)received a alo SCT. Indications consisted mainly of severe acute chest syndrome, priapism, alloimunization and silent cerebral infarctions and overt previous stroke. One patient transplanted because of advanced Hodgkin's disease. The conditioning consisted of BuCy or FluBu with ATG in all but 3 patients who received FluCy and ATG. The decision was based on the age of one of the patients (39 years old and grade IV liver fibrosis) and 2 patients with previous stroke. Results: Primary graft failure occurred only with the unrelated donor. All other patients engrafted, but one patient conditioned with FluCy lost the graft about 100 days after transplant. She received a second transplant 3 years after with BuCy from the same donor, had a 100% engraftment without any sign of GVHD but unfortunately died 3 years later in remission from a SNC bleeding caused by her acquired vascular abnormality. Median follow up for all surviving patients is 2 years (152 days – 12,2 years). Overall survival is 13/16. Death occurred in 3 cases (1 primary graft failure and sepsis, 1 Hodgkin disease, 1 hemorrhagic stroke in a patient with severe cerebral vasculopathy with MoyaMoya). No veno-occlusive disease was observed. Acute GVHD grade II were observed in 4 patients (gut and skin) easily treated with short time prednisone. All surviving patients but one are full chimeras and the 39 years old patient remain a stable mixed chimera 6 years after transplant. Quality of life has improved in all patients considerably referring extremely grateful to be free of pain. Conclusion: Different from thalassemia SCT can be offered safely for older patients with SCD in our opinion. Our data confirm the curative potential of SCT in SCD and reinforce us to offer this curative approach to patients not responding to HU. A prospective trial is planned in Brazil who should address also long term toxicities and quality of life. Disclosures: No relevant conflicts of interest to declare.


1977 ◽  
Vol 137 (3) ◽  
pp. 281a-281
Author(s):  
P. E. Mickelson

2020 ◽  
pp. 1-2
Author(s):  
Michael Alperovich ◽  
Eric Park ◽  
Michael Alperovich ◽  
Omar Allam ◽  
Paul Abraham

Although sickle cell disease has long been viewed as a contraindication to free flap transfer, little data exist evaluating complications of microsurgical procedures in the sickle cell trait patient. Reported is the case of a 55-year-old woman with sickle cell trait who underwent a deep inferior epigastric perforator (DIEP) microvascular free flap following mastectomy. The flap developed signs of venous congestion on postoperative day two but was found to have patent arterial and venous anastomoses upon exploration in the operating room. On near-infrared indocyanine green angiography, poor vascular flow was noted despite patent anastomoses and strong cutaneous arterial Doppler signals. Intrinsic microvascular compromise or sickling remains a risk in the sickle cell trait population as it does for the sickle cell disease population. Just like in sickle cell disease patients, special care should be taken to optimize anticoagulation and minimize ischemia-induced sickling for patients with sickle cell trait undergoing microsurgery.


2021 ◽  
pp. 100047
Author(s):  
Álvaro Alejandre-de-Oña ◽  
Jaime Alonso-Muñoz ◽  
Pablo Demelo-Rodríguez ◽  
Jorge del-Toro-Cervera ◽  
Francisco Galeano-Valle

Blood ◽  
1963 ◽  
Vol 22 (3) ◽  
pp. 334-341 ◽  
Author(s):  
RICHARD D. LEVERE ◽  
HERBERT C. LICHTMAN ◽  
Joan Levine

Abstract The relative rates of incorporation of Fe59 into heterogenic hemoglobins was studied in four patients with sickle cell trait. Three of the patients were free of superimposed disease, while one had active pulmonary tuberculosis. In all subjects there was a significantly greater incorporation of radioiron, per milligram of hemoglobin, into hemoglobin S than into hemoglobin A. The data indicate that in sickle cell trait the rates of synthesis of the heterogenic hemoglobins are not proportional to their circulating concentrations. Two interpretations appear possible. Since the size of the intra-marrow pool of hemoglobin S was not known, it is possible that there exists a smaller preformed pool of the abnormal hemoglobin, with the isotope making its appearance first in hemoglobin S. However, it is also possible that hemoglobin S is synthesized at a rate which is greater than that reflected by its circulating concentration. This implies that the relative concentrations of hemoglobin S and hemoglobin A vary from erythrocyte to erythrocyte, and that those cells with the greatest proportion of hemoglobin S are selectively destroyed.


1975 ◽  
Vol 250 (22) ◽  
pp. 8630-8634 ◽  
Author(s):  
JR Shaeffer ◽  
MA Longley ◽  
J DeSimone ◽  
LJ Kleve

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