View clinical trials related to Sickle Cell Trait.
Filter by:Sickle cell disease (SCD) is an inherited blood disorder associated with acute illness and organ damage. In high resource settings, early screening and treatment greatly improve quality of life. In low resource settings, however, mortality rate for children is high (50-90%). Low-cost and accurate screening techniques are critical to reducing the burden of the disease, especially in remote/rural settings. The most common and severe form of SCD is sickle cell anemia (SCA), caused by the inheritance of genes causing abnormal forms of hemoglobin (called sickle hemoglobin or hemoglobin S) from both parents. The asymptomatic or carrier form of the disease, known as sickle cell trait (SCT), is caused by the inheritance of only one variant gene from one of the parents. In areas such as Nepal, β-thalassemia (another inherited blood disorder) and SCD are both prevalent, and some combinations of these diseases lead to severe symptoms. The purpose of this study is to determine the accuracy of low-cost point-of-care techniques for screening and detecting sickle cell disease, sickle cell trait, and β-thalassaemia, which will subsequently inform on feasible solutions for detecting the disease in rural, remote, or low-resource settings. One of the goals of the study is to evaluate the feasibility of techniques, such as the sickling test with low-cost microscopy and machine learning, HbS solubility test, commercial lateral-flow assays (HemoTypeSC and Sickle SCAN), and the Gazelle Hb variant test, to supplement or replace gold standard tests (HPLC or electrophoresis), which are expensive, require highly trained personnel, and are not easily accessible in remote/rural settings. The investigators hypothesize that: 1. an automated sickling test (standard sickling test enhanced using low-cost microscopy and machine learning) has a higher overall accuracy than conventional screening techniques (solubility and sickling tests) to detect hemoglobin S in blood samples 2. the automated sickling test can additionally classify SCD, SCT and healthy individuals with a sensitivity greater than 90%, based on morphology changes of red blood cells, unlike conventional sickling or solubility tests that do not distinguish between SCD and SCT cases 3. Gazelle diagnostic device can detect β-thalassaemia and SCD/SCT with an overall accuracy greater than 90%, compared with HPLC as the reference test
The heterozygous form of sickle cell disease is clinically asymptomatic. Nevertheless, it was observed that, the sickle cell trait is associated with serious medical complications especially during intense physical efforts. Moreover, the exposure to a hot environment (tropical climate) is suspected to be a determining factor in the occurrence of these medical complications. However, the relationship between sickle cell trait and death during effort is not well established. Furthermore, the cascade of events that usually cause sickle cell crisis such as red blood cells sickling and rhabdomyolysis and which affect microcirculation are not known. Our main objective in this study is to verify whether young healthy active men with sickle cell trait have reactive hyperemia to their hemoglobinemic condition during exercise; to identify the contribution of hot environment on these possible disturbances; and to determine underlying mechanisms. In addition, disturbances in the regulation of glucose metabolism in healthy subjects under hot environment have been reported, marked by a significant increase in postprandial blood glucose. Therefore, this project is also intended to assess the contribution of the disturbance of glycoregulation during exercise under hot environment in active sickle cell trait carriers. The imbalance of pro and anti oxidant agents, the adhesion and inflammation markers will also be evaluated. Results of this study will allow a better understanding of physio-pathological mechanisms leading to vascular accidents during exercise under tropical climate in young healthy sickle cell trait carriers; and to identify physical activity programs and nutritional interventions adapted to patients with sickle cell disease under hot environment.
This is a study for parents of young children with Sickle Cell Trait (SCT) identified by newborn screening who are referred and present for in person SCT education at the Institution. The study will determine the feasibility of implementing a SCT education program (SCTaware) that is appropriate for all parents, including those with low base knowledge and low health literacy and then test if results in high and sustained SCT knowledge.
Bearers of the sickle cell allele (S) are currently eligible for blood donations in Belgium. As blood donors are not tested for this allele, their heterozygous status is unknown. However, guidelines recommend to transfuse sickle cell patients with blood that is negative for the 'S' hemoglobin. To the investigator's knowledge, no study has been conducted to evaluate the impact of transfusion with blood originating from heterozygous donors on the transfusion performance and the improvement of clinical status of the sickle cell disease patients.
Sickle cell disease (SCD) is the most frequent inherited disease in the world. Literature reports that SCD patients display intolerance to exercise, important muscle weakness and profound remodeling of skeletal muscle including amyotrophy and rarefied microvascular network. Because strenuous exercise induces acidosis, hemorheological alterations, endothelial activation and oxidative stress, it constitutes a potential triggering factor of sickling and vaso-occlusive crisis. As a consequence, physical activity is usually discouraged in patients with SCD. However, moderate and regular physical activity seems to be not only safe but also beneficial for SCD patients.
Chronic blood transfusions are essential supportive care for sickle cell patients at high risk for morbidity and mortality due to stroke. These patients, however, are at risk for iron overload. In the investigator's comprehensive sickle cell center, the investigators support chronic transfusion with rapid manual partial exchange transfusions (RMPET) using a single access central line port. The investigators do not have a comprehensive adult sickle cell program but upon transition of patients the patients would be provided simple transfusion (ST) in an adult ambulatory infusion setting due to nursing acuity needed for RMPET. The investigators plan to study the institution's participants currently on chronic transfusion support and compare different transfusion modalities to better understand the effects from switching from RMPET to ST. To date, there are no such comparisons within and between sickle cell patients in the literature.
The study is designed to establish infectivity of Plasmodium falciparum sporozoites (PfSPZ) via intravenous (IV) administration in three groups with different malaria immunity-status: 1. Adults with a history of lifelong malaria exposure without sickle cell trait (HbAA) 2. Adults with a history of lifelong malaria exposure with sickle cell trait (HbAS) 3. Adults without previous malaria episodes without sickle cell trait (HbAA) Initially a dose of 3,200 PfSPZ will be given and the time until thick blood smear positivity after challenge will be assessed. If in any of the groups with a history of lifelong malaria exposure, 50% or less of individuals become thick blood smear positive during the 28 days post injection of PfSPZ Challenge, the dose will be increased 4-fold to 12,800 PfSPZ in this group.
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To more clearly ascertain the relationship between ocular manifestations of sickle cell disease and diabetes, specifically; whether the presence of sickle cell trait exacerbates the disease progression of diabetic retinopathy.
This study will examine the effects of granulocyte colony-stimulating factor (G-CSF) on bone marrow stem cells in healthy volunteers with sickle cell trait and determine if cells collected for transplantation from donors with sickle cell trait require special handling. Stem cells, which the bone marrow produces, are responsible for making all the different kinds of blood cells. They are the cells used in bone marrow, or stem cell, transplantation. The drug G-CSF, which is a naturally occurring hormone, causes stem cells to mobilize-that is, to be released from the bone marrow and enter the blood stream. This drug is given to stem cell donors to increase the amount of cells that can be collected. Stem cell donors for patients with sickle cell disease are often healthy siblings of the patient who have a matching bone marrow type. Some siblings carry the sickle cell trait, however, and, even though they do not have sickle cell disease and their blood and bone marrow are normal, it is not known how their cells will react to G-CSF stimulation. Nor is it known if their stem cells require special methods of removal, processing or storing. Healthy volunteers 18 years or older with sickle cell trait who have no history of sickle cell disease and no known medical problems may be eligible for this study. Participants will have a medical history and physical examination, including blood tests and urinalysis. They will receive injections of G-CSF under the skin once a day for 5 days. On the fifth day, stem cells will be collected through leukapheresis. In this procedure, whole blood is drawn from an arm vein, similar to donating whole blood. The blood then circulates through a cell separator machine, the stem cells are removed, and the rest of the blood is transfused back to the donor through a vein in the other arm. The information gained from this study will be used to ensure the safety of stem cell donors with sickle cell trait and to better prepare stem cells for transplantation in sickle cell patients.