- Bead-based assays to simultaneously detect multiple human inherited blood disorders associated with malaria. [Journal Article]
- MJMalar J 2019 Jan 21; 18(1):14
- CONCLUSIONS: The bead based assay compares well to alternative measures of genotyping and phenotyping for G6PD. The screening is high throughput, adaptable to inclusion of multiple targets of interest and easily standardized.
- Point-of-care screening for sickle cell disease in low-resource settings: A multi-center evaluation of HemoTypeSC, a novel rapid test. [Journal Article]
- AJAm J Hematol 2019; 94(1):39-45
- Sickle cell disease (SCD) is a common, life-threatening genetic disorder that is best managed when diagnosed early by newborn screening. However, SCD is most prevalent in low-resource regions of the …
Sickle cell disease (SCD) is a common, life-threatening genetic disorder that is best managed when diagnosed early by newborn screening. However, SCD is most prevalent in low-resource regions of the world where newborn screening is rare and diagnosis at the point-of-care is challenging. In many such regions, the majority of affected children die, undiagnosed, before the age of 5 years. A rapid and affordable point-of-care test for SCD is needed. The diagnostic accuracy of HemoTypeSC, a point-of-care immunoassay, for SCD was evaluated in individuals who had SCD, hemoglobin C disease, the related carrier (trait) states, or a normal hemoglobin phenotype. Children and adults participated in low-, medium- and high-resource environments (Ghana [n = 383], Martinique [n = 46], and USA [n = 158]). Paired blood specimens were obtained for HemoTypeSC and a reference diagnostic assay. HemoTypeSC testing was performed at the site of blood collection, and the reference test was performed in a laboratory at each site. In 587 participants, across all study sites, HemoTypeSC had an overall sensitivity of 99.5% and specificity of 99.9% across all hemoglobin phenotypes. The test had 100% sensitivity and specificity for sickle cell anemia. Sensitivity and specificity for detection of normal and trait states were >99%. HemoTypeSC is an inexpensive (<$2 per test), accurate, and rapid point-of-care test that can be used in resource-limited regions with a high prevalence of SCD to provide timely diagnosis and support newborn screening programs.
- Sickle Cell Hemoglobin C Disease Patient Undergoing Coronary Artery Bypass Grafting with Complete Exchange Blood Transfusion during Cardiopulmonary Bypass. [Case Reports]
- JEJ Extra Corpor Technol 2018; 50(2):117-119
- Sickle cell disorders are associated with increased risk of sickling and vaso-occlusive complications when undergoing cardiopulmonary bypass (CPB) surgery. Monitoring of certain parameters such as ve…
Sickle cell disorders are associated with increased risk of sickling and vaso-occlusive complications when undergoing cardiopulmonary bypass (CPB) surgery. Monitoring of certain parameters such as venous and arterial oxygen content, hematocrit, acid base homeostasis, and body temperature are required for a superior outcome. Furthermore, perioperative exchange transfusion has a positive effect on the outcome of surgery and on the survival of patients undergoing heart surgery. Avoiding intraoperative hypoxia and hypothermia, and minimizing hemoglobin S (HbS) and hemoglobin C (HbC) levels with exchange transfusion make bypass surgery relatively safe with enhanced outcomes in these cases. The exact HbS level for conducting cardiac surgery with CPB is not known, however, a HbS level <30% is considered safe for conducting CPB. By using a "discard" cardiotomy reservoir and priming the oxygenator reservoir with donor blood, we were able to reduce the intraoperative circulating HbS and HbC levels to less than 15% and sequester the plasma and clotting factors from the discarded blood using intraoperative plasmapheresis.
- Hemoglobinosis C in Morocco : A report of 111 cas. [Journal Article]
- TMTunis Med 2017; 95(12):229-233
- - Hemoglobin C is a hemoglobin variant encountered worldwide. The regionswith high prevalence are West Africa and South-East Asia.The objective of this study is to report cases of hemoglobin C diseas…
- Hemoglobin C is a hemoglobin variant encountered worldwide. The regionswith high prevalence are West Africa and South-East Asia.The objective of this study is to report cases of hemoglobin C disease brought together during these last twelve years in the Laboratory of Biochemistry and Toxicology of RabatMilitary Hospital Mohammed V (MHIMV).
- Proliferative retinopathy and maculopathy are two independent conditions in sickle cell disease: Is there a role of blood rheology?1. [Journal Article]
- CHClin Hemorheol Microcirc 2019; 71(3):337-345
- CONCLUSIONS: Our study showed that retinopathy and maculopathy are common in sickle cell disease. Nevertheless, we found no association with hematological parameters, blood rheology or genotype.
- Newborn Blood Spot Screening for Galactosemia, Tyrosinemia Type I, Homocystinuria, Sickle Cell Anemia, Sickle Cell/Beta-Thalassemia, Sickle Cell/Hemoglobin C Disease and Severe Combined Immunodeficiency: Costs and Cost Analysis [BOOK]
- BOOKInstitute of Health Economics (IHE): Edmonton, Alberta, Canada
- This STE report examines the safety, screening accuracy, therapeutic efficacy/effectiveness, cost-effectiveness, budget impact, and health system readiness of newborn screening for seven conditions (…
This STE report examines the safety, screening accuracy, therapeutic efficacy/effectiveness, cost-effectiveness, budget impact, and health system readiness of newborn screening for seven conditions (galactosemia, tyrosinemia type I, homocystinuria, sickle cell anemia, sickle cell/beta-thalassemia, sickle cell/hemoglobin C disease, and severe combined immunodeficiency), contextualized to the Alberta setting.
- GeneReviews®: Sickle Cell Disease [BOOK]
- BOOKUniversity of Washington, Seattle: Seattle (WA)
- Sickle cell disease (SCD) is characterized by intermittent vaso-occlusive events and chronic hemolytic anemia. Vaso-occlusive events result in tissue ischemia leading to acute and chronic pain as wel…
Sickle cell disease (SCD) is characterized by intermittent vaso-occlusive events and chronic hemolytic anemia. Vaso-occlusive events result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, including the bones, spleen, liver, brain, lungs, kidneys, and joints. Dactylitis (pain and/or swelling of the hands or feet) is often the earliest manifestation of SCD. In children, the spleen can become engorged with blood cells in a "splenic sequestration." The spleen is particularly vulnerable to infarction and the majority of individuals with SCD who are not on hydroxyurea or transfusion therapy become functionally asplenic in early childhood, increasing their risk for certain types of bacterial infections. Acute chest syndrome is a major cause of mortality in SCD. Chronic hemolysis can result in varying degrees of anemia, jaundice, cholelithiasis, and delayed growth and sexual maturation. Individuals with the highest rates of hemolysis are predisposed to pulmonary artery hypertension, priapism, and leg ulcers but may be relatively protected from vaso-occlusive pain.
- Association between oxidative stress and vascular reactivity in children with sickle cell anaemia and sickle haemoglobin C disease. [Journal Article]
- BJBr J Haematol 2017; 178(3):468-475
- Oxidative stress and haemolysis-associated nitric oxide (NO) depletion plays a crucial role in the development of vasculopathy in sickle cell anaemia (SS). However it remains unknown whether oxidativ…
Oxidative stress and haemolysis-associated nitric oxide (NO) depletion plays a crucial role in the development of vasculopathy in sickle cell anaemia (SS). However it remains unknown whether oxidative stress and haemolysis levels influence vascular function in patients with sickle haemoglobin C disease (SC). Microvascular response to heat (using Laser Doppler flowmetry on finger), oxidative stress biomarkers, NO metabolites, endothelin-1 and haematological parameters were compared between patients with SS and SC. Vascular function, oxidative and nitrosative markers were also measured in healthy (AA) children. SS and SC had increased plasma advanced oxidation protein products (AOPP), malondialdehyde, plasma antioxidant activities and NO end products, compared to AA. SC had lower catalase activity compared to AA and SS. Haemolytic rate, glutathione peroxidase and nitrotyrosine concentrations were significantly increased in children with SS compared to SC and AA. SS and SC had impaired microvascular reactivity compared to AA. In SS, the plateau phase of the response to local thermal heating was negatively associated with nitrotyrosine and AOPP. No association between vascular function parameters and oxidative stress markers was observed in SC. Mild haemolysis in SC, compared to SS, may limit oxidative and nitrosative stress and could explain the better preserved microvascular function in this group.
- Cerebral and muscle microvascular oxygenation in children with sickle cell disease: Influence of hematology, hemorheology and vasomotion. [Journal Article]
- BCBlood Cells Mol Dis 2017; 65:23-28
- The present study investigated cerebral and muscle hemoglobin oxygen saturation (tissue oxygen index, TOI) in children with sickle cell anemia (SS), sickle cell hemoglobin C disease (SC) and healthy …
The present study investigated cerebral and muscle hemoglobin oxygen saturation (tissue oxygen index, TOI) in children with sickle cell anemia (SS), sickle cell hemoglobin C disease (SC) and healthy children (AA). TOI was measured by near-infrared spectroscopy (NIRS) and spectral analysis of the TOI variability was used to assess flowmotion and vasomotion. Arterial oxyhemoglobin saturation (SpO2), hemorheological and hematological parameters were also measured in SS and SC children. Both TOI were lower in SS compared to both AA and SC children, with SC exhibiting lower values than AA children. Cerebral vasomotion expressed in absolute values was enhanced in SS compared to AA and SC children. Muscle vasomotion did not differ between the three groups. Hematocrit, SpO2 and red blood cell deformability were positively associated with cerebral TOI in SS children. We demonstrated that 1) cerebral and muscle TOI were markedly decreased in SS children while the decrease of TOI was milder in SC children, 2) cerebral TOI level was associated with several biological markers in SS children only and 3) cerebral vasomotion was enhanced in SS, possibly to counterbalance the effects of chronic cerebral hypoxia.
New Search Next
- Micro- and macrovascular function in children with sickle cell anaemia and sickle cell haemoglobin C disease. [Clinical Trial]
- BCBlood Cells Mol Dis 2017; 64:23-29
- It is unclear whether vascular function is affected similarly in children with sickle cell anaemia (SS) and children with sickle haemoglobin C (SC) disease. Therefore, we compared micro and macrovasc…
It is unclear whether vascular function is affected similarly in children with sickle cell anaemia (SS) and children with sickle haemoglobin C (SC) disease. Therefore, we compared micro and macrovascular functions in healthy (AA) children, children with SS and SC disease, and assessed their association with physical activity. Participants (24 SS, 22 SC and 16 AA), were compared in terms of 1) thermal hyperaemic response (finger pad warming to 42°C) measured by Laser Doppler techniques, 2) arterial stiffness determined by pulse wave velocity, 3) daily energy expenditure related to moderate and intense physical activities estimated by questionnaire and 4) fitness level, evaluated by the six-minute walk test. Response to heating differed between SS, SC and controls. Peripheral microvascular reactivity was lower and pulse wave velocity higher in SS compared to AA. SC had blunted microvascular reactivity in response to heating compared to AA but pulse wave velocity was not different within the two groups. Physical activity and fitness levels were markedly lower in sickle cell patients compared to healthy controls but no association was observed with vascular function. Microvasodilatory reserve is decreased in both SS and SC patients but only SS patients were also characterised by impaired macrovascular function.