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Balancing exercise risk and benefits: lessons learned from sickle cell trait and sickle cell anemia.

Development of exercise guidelines for individuals with sickle cell trait (SCT) and sickle cell anemia (SCA) is hampered by the need to weigh the benefits against risks of exercise in these populations. In SCT, concern for exercise collapse associated with sickle cell trait has resulted in controversial screening of student athletes for SCT. In SCA, there exists unsubstantiated concerns that high-intensity exercise may result in pain and other complications. In both, finding the "right dose" of exercise remains a challenge for patients and their providers. Despite assumptions that factors pred…

Sickle cell disease resulting from uniparental disomy in a child who inherited sickle cell trait.

Sickle cell disease (SCD) is a classic example of a disorder with recessive Mendelian inheritance, in which each parent contributes one mutant allele to an affected offspring. However, there are exceptions to that rule. We describe here the first reported case of conversion of inherited sickle cell trait to SCD by uniparental disomy (UPD) resulting in mosaicism for SS and AS erythrocytes. A 14-year-old boy presented with splenomegaly and hemolysis. Although his father has sickle cell trait, his mother has no abnormal hemoglobin (Hb). DNA sequencing, performed to rule out Hb S/β-thalassemia, de…

Probing Red Blood Cell Deformability in Sickle Cell Disease, Sickle Cell Trait, and Healthy Controls by Ektacytometry.

INTRODUCTION: Red blood cell (RBC) deformability is a key determinant of sickle cell disease (SCD) pathophysiology. We evaluated RBC deformability across HbSS, HbAS, and HbAA genotypes and investigated its associations with hemolysis, fetal hemoglobin (HbF), coinherited α-thalassemia, hydroxyurea treatment, and the PIEZO1 E756del variant. METHODS: We used Lorrca ektacytometry to compare RBC deformability across 174 participants with HbSS, HbAS, and HbAA genotypes. Deformability was evaluated across a range of shear stresses, osmotic pressures, and oxygen tensions. Associations between deforma

Reconsidering sickle cell trait testing of red blood cell units allocated to children with sickle cell disease.

BACKGROUND: Sickle cell trait (SCT) testing of red blood cell (RBC) units is sometimes performed to identify and divert units containing hemoglobin S (HbS). Recipients strategically guarded against this exposure include fetuses, neonates, and children with sickle cell disease (SCD). The clinical necessity of this practice is unclear. STUDY DESIGN AND METHODS: A one-year audit (2018) was performed at a pediatric tertiary care hospital that tests for SCT in RBC units prescribed to children with SCD and neonates. The impact of incorporating varying numbers of SCT RBC units in a single-unit top-u…

Alterations of Plasma Metabolites Associated with Sickle Cell Trait.

KEY POINTS: We identified 69 plasma metabolites associated with sickle cell trait, including markers of eGFR and/or related to oxidative stress pathways. Twenty-five percent or 39% of the sickle cell trait-associated metabolites were replicated in the Atherosclerosis Risk in Communities study. Sickle cell trait-associated metabolites individually or in aggregate were associated with better prediction of incident kidney failure in those with sickle cell trait. BACKGROUND: Sickle cell trait (SCT) is the heterozygous carrier state for sickle cell disease (SCD) and is common among individuals of …

Дело о щекотливой клеточной трансляции со строкой.

Мы представим случай 41-летнего курильщика, появляющегося с острыми, левосторонними нижними нейронными нервами на лице, оставляя тригеминальные сенсорные потери и мозжечки. Воображения с неконтактной КТ и МРТ мозга исключали диагностику опухоли церебеллопонтинового угла и множественный склероз, и были завершены как инсульт. Поскольку пациент был родом из хорошо известного кластерного района в Шри-Ланке, был проведен тест на серповиднение. Тест на серповиднение был положительным, и мы продолжили высокоэффективную жидкую хроматографию, которая выявила 38,2% гемоглобина S. Диагностика этого призн

Совпадение в аннотации оригинала
We present the case of a 41-year-old previously well smoker presenting with acute-onset, left-sided lower motor neuron facial nerve palsy, l … t it is rare. This can be attributed to chronic sickle vasculopathy. This phenomenon is not seen in sickle cell trait. Regular screening for sickle cell disease or trait is crucial in young stroke patients originating from endemic regions, even in the absence of anemia. Sickle cell trait may contribute to ischemic stroke, potentially associated with extracranial ar …

Haemoglobin Ottawa, sickle cell trait and vaso-occlusive crises.

A girl with a sickle cell trait had severe VOCs (vaso-occlusive crises), her father also had a sickle cell trait but mild VOCs, and her mother had no symptoms. Electrophoresis on agarose gel under alkaline conditions showed haemoglobin AS (HbAS) in the girl and in her father, with an S band increased more than expected (46.2% and 41.2% respectively), and a band migrating at C (16.8% and 8.9% respectively) in both. There was a band at S (19.6 %) in her mother. The C band was attributed to a hybrid tetramer with haemoglobin S (HbS) and a Hb variant. A homozygous c.46G>C mutation (Hb Ottawa, the …

Sickle cell trait newborn screen results: disclosure and management.

This study aims to evaluate the notification process of sickle cell trait (SCT) identified by newborn screening in Alberta. On April 1, 2019, Alberta began newborn screening for sickle cell disease (SCD) and elected to report sickle cell trait (SCT). For 1 year, healthcare providers (HCPs) were sent a questionnaire which addressed the perceived importance of disclosing the SCT results, whether HCPs felt competent in disclosing the result, knowledge of available resources, and comfort with coordinating and interpreting testing for the newborn's parents. As a control, we collected data from HCPs…

Coagulation activation in sickle cell trait: an exploratory study.

Recent epidemiologic data suggest that sickle cell trait (HbAS; AS) is a risk factor for venous thromboembolism. We conducted an exploratory study of healthy subjects with AS under baseline conditions to determine whether a chronic basal hyperactivation of coagulation exists, and if so, what mechanism(s) contribute to this state. Eighteen healthy AS individuals were compared to 22 African-American controls with a normal haemoglobin profile (HbAA; AA) and 17 patients with sickle cell disease (HbSS; SS). Plasma thrombin-antithrombin complexes and D-dimer levels were elevated in AS relative to AA…

The splenic syndrome in individuals with sickle cell trait.

The medical records of 25 individuals with sickle cell trait and altitude-associated splenic infarct, reported to two Colorado physicians, were reviewed. Electrospray mass spectroscopy was performed on blood samples from a cohort of 10 of the individuals to rapidly confirm beta hemoglobin phenotype. Only males were identified with a 1.4:1 ratio of non-African Americans to African Americans, and 44% of African Americans and 85% of non-African Americans were unaware they had sickle cell trait. Left upper quadrant pain and an elevated bilirubin were nearly uniformly present. Either abdominal CT o…

Sickle cell trait and sudden death--bringing it home.

Sickle cell trait continues to be the leading cause of sudden death for young African Americans in military basic training and civilian organized sports. The syndrome may have caused the death of up to 10 college football players since 1974 and, as recently as 2000, was suspected as the cause of death of three U.S. Army recruits. The penal military-style boot camps in the United States and the recent death of two teenagers with sickle cell trait merits renewed vigor in the education of athletic instructors, the military and the public about conditions associated with sudden death in individual…

Compartment syndrome and fatal rhabdomyolysis in sickle cell trait.

Sickle cell trait is a relatively common condition in the African-American population. Individuals with this condition may have any of several complications under rare circumstances. We report a patient who presented with extensive compartment syndrome leading to death. A 31-year-old African-American male with known history of sickle cell trait developed extensive compartment syndrome followed by rhabdomyolysis, severe acidosis, acute renal failure, and coagulopathy. Although the patient underwent multiple fasciotomies for extensive compartment syndrome and received aggressive resuscitation wi…