scholarly journals Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease

PLoS Genetics ◽  
2018 ◽  
Vol 14 (3) ◽  
pp. e1007293 ◽  
Author(s):  
Laura M. Raffield ◽  
Jacob C. Ulirsch ◽  
Rakhi P. Naik ◽  
Samuel Lessard ◽  
Robert E. Handsaker ◽  
...  
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Clinical Phenotypes

scholarly journals Age-related Changes in Malaria Clinical Phenotypes During Infancy are Modified by Sickle Cell Trait

2021 ◽  
Author(s):  
Nicholas Zehner ◽  
Harriet Adrama ◽  
Abel Kakuru ◽  
Teddy Andra ◽  
Richard Kajubi ◽  
...  
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Malaria Incidence ◽  
Protective Efficacy ◽  
Plasmodium Falciparum Malaria ◽  
Clinical Phenotypes ◽  
Young Infants ◽  
Symptomatic Malaria ◽  
Age Related ◽  
Malaria Incidence Rate

Abstract Background Young infants are protected against Plasmodium falciparum malaria. Mechanisms driving this protection remain unclear due to a poor understanding of malaria clinical phenotypes during infancy. Methods We enrolled a birth cohort of 678 infants in Busia, Uganda, an area of high malaria transmission. We followed infants through 12 months of age, and quantified protection against parasitemia and clinical disease. Results Symptomatic malaria incidence increased from 1.2 to 2.6 episodes per person year between 0-<6 months and 6-12 months of age, while the monthly probability of asymptomatic parasitemia given infection decreased from 32% to 21%. Sickle cell trait (HbAS) was protective against symptomatic malaria (incidence rate ratio (IRR) = 0.57 comparing HbAS vs. HbAA, 95% CI 0.44-0.74, p<0.001), but age modified this relationship (Pint=<0.001), with non-linear protection that waned between 0-9 months of age before increasing. Increasing age was associated with higher parasite densities at the time of infection, and, in infants with HbAS, a reduced ability to tolerate high parasite densities without fever. Conclusions Age-dependent changes in HbAS protective efficacy in infancy were accompanied by differential loss of anti-parasite and anti-disease protection among HbAS and HbAA infants. This provides a framework for investigating mechanisms underlying infant protection against malaria.

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

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

Multiple Diaphyseal Bone Infarcts in a Patient With Sickle Cell Trait

2015 ◽  
Vol 21 (7) ◽  
pp. 386-387
Author(s):  
Shengyang Liao ◽  
Kamal Solanki ◽  
Alan Doube
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Diaphyseal Bone

scholarly journals Sickle Cell Trait and Renal Function in Hispanics in the United States: the Northern Manhattan Study

2017 ◽  
Vol 27 (1) ◽  
pp. 11 ◽  
Author(s):  
Nicole D. Dueker ◽  
David Della-Morte ◽  
Tatjana Rundek ◽  
Ralph L. Sacco ◽  
Susan H. Blanton
Keyword(s):  
United States ◽  
Chronic Kidney Disease ◽  
African Americans ◽  
Kidney Disease ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
The United States ◽  
Genetic Mutation ◽  
Single Mutation ◽  
Increased Risk

<p class="Pa7">Sickle cell anemia (SCA) is a common hematological disorder among individu­als of African descent in the United States; the disorder results in the production of abnormal hemoglobin. It is caused by homozygosity for a genetic mutation in HBB; rs334. While the presence of a single mutation (sickle cell trait, SCT) has long been considered a benign trait, recent research suggests that SCT is associated with renal dysfunction, including a decrease in estimated glomerular filtration rate (eGFR) and increased risk of chronic kidney disease (CKD) in African Americans. It is currently unknown whether similar associations are observed in Hispanics. Therefore, our study aimed to determine if SCT is associated with mean eGFR and CKD in a sample of 340 Dominican Hispanics from the Northern Manhattan Study. Using regression analyses, we tested rs334 for association with eGFR and CKD, adjusting for age and sex. eGFR was estimated using the Chronic Kidney Disease Epidemiology Collaboration equa­tion and CKD was defined as eGFR &lt; 60 mL/min/1.73 m2. Within our sample, there were 16 individuals with SCT (SCT carriers). We found that SCT carriers had a mean eGFR that was 12.12 mL/min/1.73m2 lower than non-carriers (P=.002). Additionally, SCT carriers had 2.72 times higher odds of CKD compared with non-carriers (P=.09). Taken together, these novel results show that Hispanics with SCT, as found among African Americans with SCT, may also be at increased risk for kidney disease.</p><p class="Pa7"><em>Ethn Dis. </em>2017; 27(1)<strong>:</strong>11-14; doi:10.18865/ed.27.1.11.</p><p class="Pa7"> </p>

Sign in / Sign up

Export Citation Format

Share Document