Does the sickle cell trait (heterozygous carrier status) confer protection against malaria?

2012 ◽  
Vol 22 (3) ◽  
pp. 331-333
Author(s):  
C. Désidéri-Vaillant ◽  
J. Sapin-Lory ◽  
L. Di Costanzo ◽  
C. Cano ◽  
D. Lambrechts ◽  
...  
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Carrier Status ◽  
Heterozygous Carrier

scholarly journals Sickle-Cell Trait: Novel Clinical Significance

Hematology ◽  
2010 ◽  
Vol 2010 (1) ◽  
pp. 418-422 ◽  
Author(s):  
Nigel S. Key ◽  
Vimal K. Derebail
Keyword(s):  
Sickle Cell ◽  
Neonatal Period ◽  
Sickle Cell Trait ◽  
Carrier State ◽  
Medical Advice ◽  
Carrier Status ◽  
Selective Screening ◽  
Disease Phenotype ◽  
Cell Disease ◽  
New Information

Abstract There is a long-standing controversy in the literature as to whether sickle-cell trait (SCT) should be viewed as a benign carrier state or as an intermediate disease phenotype. Because SCT is routinely detected by neonatal screening for sickle-cell disease, it becomes imperative that consensus on this issue be achieved in order to provide the best medical advice to affected individuals. The issue of selective screening in the post-neonatal period was thrust into the limelight recently by the National Collegiate Athletic Association's recommendation that its member colleges and universities test student-athletes to confirm their carrier status if not already known. The stated goal of this recommendation was to prevent exercise-related sudden death in athletes with SCT. We review some of the reported complications of SCT for which new information has emerged, focusing particularly on venous thromboembolism and renal manifestations.

Abstract P023: Association of Sickle Cell Trait with Common Electrocardiographic Abnormalities in The REasons for Geographic and Racial Differences in Stroke (REGARDS) Study

Circulation ◽  
2017 ◽  
Vol 135 (suppl_1) ◽  
Author(s):  
Daniel Douce ◽  
Elsayed Z Soliman ◽  
Rakhi P Naik ◽  
Hyacinth I Hyacinth ◽  
Mary Cushman ◽  
...  
Keyword(s):  
Racial Differences ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Left Ventricular ◽  
Recessive Mutation ◽  
Carrier Status ◽  
Older Individuals ◽  
Qtc Prolongation ◽  
Benign Condition ◽  
Regards Study

Introduction: Sickle cell disease (SCD) arises from an autosomal recessive mutation that leads to progressive vascular obstruction and early death. Sickle cell trait (SCT), the carrier status, is present in ~8% of African-Americans (AA) and is thought to be a benign condition, although evidence now suggests an association with worse cardiovascular and renal outcomes. Electrocardiogram (ECG) changes have been documented in SCD patients; however, similar studies in SCT individuals are lacking. We hypothesized that left ventricular hypertrophy (LVH), atrial fibrillation (AF) and QTc prolongation would be more common in SCT carriers than non-carriers. Methods: SCT was genotyped in 10,731 AA participants in the REasons for Geographic and Racial Differences in Stroke (REGARDS) study. Baseline risk factors were recorded from 2003-7. LVH was determined using Sokolow-Lyon criteria for all participants, and Cornell criteria in those with 12 lead ECGs (n = 8,690). AF was based on both self-report and ECG criteria. We assessed the association of SCT with LVH, AF, and QTc using multivariable logistic regression adjusting for age, sex, income, education, self-reported history of stroke, myocardial Infarction, diabetes, hypertension, and chronic kidney disease. Results: Among AA participants with ECG data and genotyping, 787 of 10,553 were SCT carriers (7.5%). AF was present in 814 (7.8%), LVH in 1,556 (14.7%) and QTc prolongation in 357 (3.4%). SCT status was associated with AF with an adjusted OR of 1.36 (95% CI 1.05, 1.76). SCT was not associated with LVH by Cornell criteria or Sokolow-Lyon (OR 1.16; 95% CI 0.94, 1.42). There was a significant age (continuous) by SCT interaction (p=0.02) with SCT associated with increased risk of LVH in younger but not older individuals. When stratified by the mean age of the cohort (65 years), younger individuals with SCT had an OR of 1.50 (95% CI 1.14, 1.97) for LVH, an association not seen in older individuals (OR 0.86; 95% CI 0.63-1.18). QTc prolongation was not associated with SCT (OR 0.97, 95% CI 0.64-1.47). Conclusions: SCT was associated with increased prevalence of AF in all individuals and with LVH in younger but not older individuals and was not associated with QTc prolongation. These data suggest SCT is not benign, and for the first time report the association of SCT with common ECG abnormalities. The association with AF and LVH is concerning with respect to increased stroke risk, especially the increased prevalence of LVH seen at younger ages in SCT. These data raise the question of whether individuals with SCT need more intensive monitoring and/or hypertension control than the general population.

scholarly journals Is Sickle Cell Trait Associated with Incident Cardiovascular Outcomes in African Americans?

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 4920-4920
Author(s):  
Hyacinth Idu Hyacinth ◽  
Cara Carty ◽  
Gregory L. Burke ◽  
Rakhi P. Naik ◽  
Robert J. Adams ◽  
...  
Keyword(s):  
Coronary Heart Disease ◽  
Heart Disease ◽  
African Americans ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
African Ancestry ◽  
Cardiovascular Outcomes ◽  
Carrier Status ◽  
Increased Risk ◽  
Significant Difference

Abstract Background African Americans experience higher rates of cardiovascular disease (CVD) and mortality from stroke and coronary heart disease. It is possible that genetic modifiers associated with African ancestry may confer higher risk of CVD. The sickle cell mutation results from a functional single nucleotide polymorphism (SNP) involving the substitution of GTG (valine) for a GAG (glutamic acid) in the gene encoding beta globin. Heterozygosity for the mutation (rs334) results in sickle cell trait (SCT) which is prevalent among 8% of African Americans, while homozygosity produces sickle cell anemia. Sickle cell trait has been deemed clinically benign yet recent evidence shows that it is associated with increased risk of chronic kidney disease, a 2 times increased risk for venous thromboembolism and a 4 times increased risk for pulmonary embolism. Further, there is evidence that individuals with SCT have higher serum levels of C-reactive protein, Fibrinogen 2.1 fragments and D-dimers. We hypothesized that African Americans with SCT have a higher risk for cardiovascular outcomes than those without SCT (homozygous wild-type hemoglobin). Methods Data were obtained from the Multi-Ethnic Study of Atherosclerosis (MESA), Jackson Heart Study (JHS) and Women’s Health Initiative (WHI). Incident myocardial infarction (MI) was defined as adjudicated non-fatal or fatal MI, coronary heart disease (CHD) was defined as a composite endpoint including adjudicated non-fatal MI, fatal CHD, or documented coronary revascularization procedure. Sickle cell trait was identified either by direct genotyping or imputation for rs334. Individuals who were homozygous for the sickle mutation or had a prior history of CHD events were excluded. Cox proportional hazards models were used to estimate a hazard ratio (HR) of incident MI or CHD comparing sickle cell trait carriers to non-carriers. Models were adjusted for age, sex and principal component of global ancestry. Analysis was performed separately in each cohort and the results were subsequently meta-analyzed using a fixed effect inverse variance weighted method. Results A total of 11,128 African American men and women were included in the pooled data base. The average age at baseline were 62.2 ± 10.1, 49.8 ± 11.8 and 61.4 ± 7.0 years for MESA, JHS and WHI respectively, with JHS participants significantly younger than the other two cohorts (p <0.001). Unlike the MESA and JHS cohorts that included both genders, the WHI cohort was exclusively female. Additionally, the percentage African ancestry was significantly higher among those with SCT compared to those without SCT (82 ± 12% vs. 78 ± 14% for MESA, 84 ± 6% vs. 82 ± 9% for JHS and 79 ± 12% vs. 76 ± 15% for WHI), further the percentage African ancestry was significantly lower among WHI subjects irrespective of carrier status, p <0.01. There was no significant difference between cohorts in the prevalence of diabetes or hypertension, mean blood pressure levels, or proportion of smokers (table 1). The HR for incident MI was 1.56 (0.66 – 3.68) in MESA, 1.04 (0.32 – 3.39) in JHS and 0.97 (0.68 – 1.39) in WHI, but was not statistically significant. Further, the HR for incident CHD was 2.73 (1.52 – 4.89) in MESA, 1.14 (0.46 – 2.89) in JHS and 0.97 (0.68 – 1.17) in WHI, although the HR only achieved statistical significance in MESA (p<0.001). Overall, sickle cell trait was not significantly associated with incident MI (1.04 [0.76 – 1.43]) or CHD (1.11 [0.85 – 1.43] figure 1). Limitation/Recommendations and Conclusion The overall result from this study did not demonstrate a significant association between SCT and CHD. This may reflect inadequate power due to the relatively small number of CHD events and differences in study design. This study suggests the need for a well powered study to test this hypothesis, the result of which could have significant impact on the approach to risk factor modification for African Americans. Figure 1 Figure 1. Figure 2 Figure 2. Disclosures Naik: NHLBI: Research Funding.

Sickle Cell Trait and Renal Disease

2016 ◽  
Vol 12 (02) ◽  
pp. 95
Author(s):  
Salma M AlDallal ◽  
Nasser M AlDallal ◽  
◽  
Keyword(s):  
Renal Disease ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Globin Gene ◽  
Short Review ◽  
Carrier Status ◽  
Global Public Health ◽  
Complete Understanding ◽  
Clinical Conditions ◽  
The Relationship

I ndividuals with sickle cell trait (SCT), the heterozygous state of sickle hemoglobin β-globin gene (HbAS), are generally reassured that their health will not be affected by their carrier status. Renal disease, especially hematuria, is one of the most common and severe complications experienced by patients with sickle cell disease (SCD); but a complete understanding of the relationship between SCT and the development of chronic kidney disease (CKD) is still lacking. In this short review, we present an overview of SCT and renal complications in SCT, and discuss and identify SCT as a risk factor resulting from an interplay between genetic and environmental influences. Although SCT itself may not be a disease in itself, there is evidence suggesting clinical conditions related to SCT. Additionally, we highlight the rationale for further studies into this area, which could affect the global public health recommendations on any associated health risks.

Sickle cell trait and the eye

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

Microsurgery in the Sickle Cell Trait Population: Is It Actually Safe?

2020 ◽  
pp. 1-2
Author(s):  
Michael Alperovich ◽  
Eric Park ◽  
Michael Alperovich ◽  
Omar Allam ◽  
Paul Abraham
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Free Flap ◽  
Near Infrared ◽  
Sickle Cell Trait ◽  
Cell Disease ◽  
Flap Transfer ◽  
Free Flap Transfer ◽  
Patient Reported ◽  
Deep Inferior Epigastric Perforator

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.

scholarly journals COVID-19 as a trigger for splenic infarction in a patient with sickle cell trait: a case report

2021 ◽  
pp. 100047
Author(s):  
Álvaro Alejandre-de-Oña ◽  
Jaime Alonso-Muñoz ◽  
Pablo Demelo-Rodríguez ◽  
Jorge del-Toro-Cervera ◽  
Francisco Galeano-Valle
Keyword(s):  
Case Report ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Splenic Infarction

scholarly journals Metabolism of Heterogenic Hemoglobins

Blood ◽  
1963 ◽  
Vol 22 (3) ◽  
pp. 334-341 ◽  
Author(s):  
RICHARD D. LEVERE ◽  
HERBERT C. LICHTMAN ◽  
Joan Levine
Keyword(s):  
Pulmonary Tuberculosis ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Hemoglobin S ◽  
Active Pulmonary Tuberculosis ◽  
Hemoglobin A ◽  
Abnormal Hemoglobin

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.

scholarly journals Patterns of hemoglobin assembly in reticulocytes of sickle cell trait individuals.

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