627 results match your criteria Hemoglobin C Disease

Impact of a submaximal mono-articular exercise on the skeletal muscle function of patients with sickle cell disease.

Eur J Appl Physiol 2021 Sep 22;121(9):2459-2470. Epub 2021 May 22.

Inter-University Laboratory of Human Movement Sciences (LIBM) EA7424, Team "Vascular Biology and Red Blood Cell", University Claude Bernard Lyon 1, Villeurbanne, France.

Purpose: Sickle cell disease (SCD) patients exhibit a limited exercise tolerance commonly attributed to anaemia, as well as hemorheological and cardio-respiratory abnormalities, but the functional status of skeletal muscle at exercise is unknown. Moreover, the effect of SCD genotype on exercise tolerance and skeletal muscle function has been poorly investigated. The aim of this study was to investigate skeletal muscle function and fatigue during a submaximal exercise in SCD patients. Read More

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September 2021

A Deep C Dive.

Clin Chem 2020 06;66(6):860-861

Department of Pathology, University of Virginia, Charlottesville, VA.

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Sickle Cell Anemia in Cuba: Prevention and Management, 1982-2018.

MEDICC Rev 2019 10;21(4):34-38

Sickle cell anemia is the most common hereditary disease in Cuba. On average, 1 in 33 Cubans is a carrier of this severe hemolytic anemia that can cause early death. In early 1980, its incidence in Cuba was calculated at 1 in 1600 births. Read More

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October 2019

Assessment of Hemoglobin Variants in Patients Receiving Health Care at the Ho Teaching Hospital: A Three-Year Retrospective Study.

Adv Hematol 2020 21;2020:7369731. Epub 2020 Mar 21.

Department of Medical Laboratory Sciences, School of Allied Health Sciences, University of Health and Allied Sciences, Ho, Ghana.

Background: It is estimated that one out of every three Ghanaians has hemoglobin genotype mutation. This change in genetic make-up may result in genotypes such as HbAS, HbSS, and HbSC. Many children in low- and middle-income countries die even before they are diagnosed with sickle cell disease (SCD). Read More

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Rifaximin for sickle cell disease.

Am J Hematol 2019 12 7;94(12):E325-E328. Epub 2019 Oct 7.

Westchester Medical Center Cancer Institute, Hawthorne, New York.

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December 2019

Hereditary spherocytosis is associated with decreased pyruvate kinase activity due to impaired structural integrity of the red blood cell membrane.

Br J Haematol 2019 11 5;187(3):386-395. Epub 2019 Jul 5.

Department of Paediatrics, University of Würzburg, Würzburg, Germany.

Hereditary spherocytosis (HS) is characterised by increased osmotic fragility and enhanced membrane loss of red blood cells (RBC) due to defective membrane protein complexes. In our diagnostic laboratory, we observed that pyruvate kinase (PK) activity in HS was merely slightly elevated with respect to the amount of reticulocytosis. In order to evaluate whether impaired PK activity is a feature of HS, we retrospectively analysed laboratory data sets from 172 unrelated patients with HS, hereditary elliptocytosis (HE), glucose-6-phosphate dehydrogenase (G6PD) or PK deficiency, sickle cell or haemoglobin C disease, or β-thalassaemia minor. Read More

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November 2019

Bead-based assays to simultaneously detect multiple human inherited blood disorders associated with malaria.

Malar J 2019 Jan 21;18(1):14. Epub 2019 Jan 21.

Department of Immunology and Infection, London School of Hygiene & Tropical Medicine, London, UK.

Background: Glucose-6-phosphate dehydrogenase deficiency (G6PDd), haemoglobin C (HbC) and S (HbS) are inherited blood disorders (IBD) common in populations in malaria endemic areas. All are associated to some degree with protection against clinical malaria whilst additionally G6PDd is associated with haemolysis following treatment with 8-aminoquinolines. Measuring the prevalence of these inherited blood disorders in affected populations can improve understanding of disease epidemiology. Read More

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January 2019

An unusual hemoglobinopathy: compound heterozygosity for hemoglobins C and E.

Am J Hematol 2019 01 31;94(1):144. Epub 2018 Oct 31.

Department of Haematology, St Mary's Hospital, London, United Kingdom.

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January 2019

Point-of-care screening for sickle cell disease in low-resource settings: A multi-center evaluation of HemoTypeSC, a novel rapid test.

Am J Hematol 2019 01 31;94(1):39-45. Epub 2018 Oct 31.

Division of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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. Read More

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January 2019

Sickle Cell Hemoglobin C Disease Patient Undergoing Coronary Artery Bypass Grafting with Complete Exchange Blood Transfusion during Cardiopulmonary Bypass.

J Extra Corpor Technol 2018 06;50(2):117-119

Department of Cardiac Surgery, Lexington Medical Center, West Columbia, South Carolina.

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. Read More

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Hemoglobinosis C in Morocco : A report of 111 cas.

Tunis Med 2017 Dec;95(12):229-233

Background: - 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). Read More

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December 2017

Proliferative retinopathy and maculopathy are two independent conditions in sickle cell disease: Is there a role of blood rheology?1.

Clin Hemorheol Microcirc 2019 ;71(3):337-345

Université des Antilles, CHU dePointe-à-Pitre, Guadeloupe, Université Sorbonne Paris Cité, Université Paris Diderot, Inserm, INTS, Unité Biologie Intégrée du Globule Rouge UMR_S1134, Paris, France.

Objective: Our study investigated the prevalence of retinopathy and maculopathy in sickle cell patients and tested the association between these two conditions. In addition, we tested whether hematological and hemorheological parameters, as well as genotype, were involved in the development of these two conditions.

Methods: Seventy sickle cell adult patients were recruited: 37 with sickle cell anemia (SCA) and 33 with sickle cell hemoglobin C disease (SCC). Read More

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Association between oxidative stress and vascular reactivity in children with sickle cell anaemia and sickle haemoglobin C disease.

Br J Haematol 2017 08 3;178(3):468-475. Epub 2017 May 3.

Laboratory LIBM EA7424, Team "Vascular Biology and Red Blood Cell", University of Lyon 1, Villeurbanne, France.

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. Read More

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Cerebral and muscle microvascular oxygenation in children with sickle cell disease: Influence of hematology, hemorheology and vasomotion.

Blood Cells Mol Dis 2017 06 4;65:23-28. Epub 2017 Apr 4.

Université des Antilles, Inserm, Unité Biologie Intégrée du Globule Rouge, Laboratoire d'Excellence du Globule Rouge GR-Ex, Paris, France; Institut Universitaire de France (IUF), Paris, France; Université Claude Bernard Lyon 1, Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM) EA7424, Equipe "Biologie Vasculaire et du Globule Rouge", Villeurbanne, France. Electronic address:

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 (SpO), hemorheological and hematological parameters were also measured in SS and SC children. Read More

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Micro- and macrovascular function in children with sickle cell anaemia and sickle cell haemoglobin C disease.

Blood Cells Mol Dis 2017 05 4;64:23-29. Epub 2017 Feb 4.

Laboratory ACTES (EA 3596), French West Indies University, Pointe-à-Pitre, Guadeloupe, France. Electronic address:

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. Read More

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Hemoglobin C trait accentuates erythrocyte dehydration in hereditary xerocytosis.

Pediatr Blood Cancer 2017 Aug 25;64(8). Epub 2017 Jan 25.

Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut.

A 17-year-old male presented with acute hemolysis with stomatocytosis, elevated mean corpuscular hemoglobin concentration (MCHC), and osmotic gradient ektacytometry consistent with marked erythrocyte dehydration. Erythrocytes from both parents also demonstrated evidence of dehydration with elevated MCHC and abnormal ektacytometry, but neither to the degree of the patient. Genetic studies revealed the patient had hereditary xerocytosis (HX) due to a novel PIEZO1 mutation inherited from his mother and hemoglobin C (HbC) trait inherited from his father. Read More

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Abnormal expression of inflammatory genes in placentas of women with sickle cell anemia and sickle hemoglobin C disease.

Ann Hematol 2016 Oct 22;95(11):1859-67. Epub 2016 Aug 22.

Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas - UNICAMP, Campinas, SP, Brazil.

Sickle cell disease (SCD) is a complex disease that is characterized by the polymerization of deoxyhemoglobin S, altered red blood cell membrane biology, endothelial activation, hemolysis, a procoagulant state, acute and chronic inflammation, and vaso-occlusion. Among the physiological changes that occur during pregnancy, oxygen is consumed by fetal growth, and pregnant women with SCD are more frequently exposed to low oxygen levels. This might lead to red blood cells sickling, and, consequently, to vaso-occlusion. Read More

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October 2016

Effect of Age on Blood Rheology in Sickle Cell Anaemia and Sickle Cell Haemoglobin C Disease: A Cross-Sectional Study.

PLoS One 2016 29;11(6):e0158182. Epub 2016 Jun 29.

Laboratoire Interuniversitaire de Biologie de la Motricité, Equipe "Vascular Biology and Red Blood Cell", Université Claude Bernard Lyon 1, Lyon, France.

Objectives: Blood rheology plays a key role in the pathophysiology of sickle cell anaemia (SS) and sickle cell haemoglobin C disease (SC), but its evolution over the lifespan is unknown.

Materials And Methods: Blood viscosity, red blood cell (RBC) deformability and aggregation, foetal haemoglobin (HbF) and haematocrit were measured in 114 healthy individuals (AA), 267 SS (161 children + 106 adults) and 138 SC (74 children + 64 adults) patients.

Results: Our results showed that 1) RBC deformability is at its maximal value during the early years of life in SS and SC populations, mainly because HbF level is also at its peak, 2) during childhood and adulthood, hydroxycarbamide treatment, HbF level and gender modulated RBC deformability in SS patients, independently of age, 3) blood viscosity is higher in older SS and SC patients compared to younger ones and 4) haematocrit decreases as SS patients age. Read More

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Medullary Microvascular Thrombosis and Injury in Sickle Hemoglobin C Disease.

J Am Soc Nephrol 2016 May 6;27(5):1300-4. Epub 2015 Nov 6.

Departments of Pathology and

Sickle cell nephropathy is a common complication in patients with sickle cell hemoglobinopathies. In these disorders, polymerization of mutated hemoglobin S results in deformation of red blood cells, which can cause endothelial cell injury in the kidney that may lead to thrombus formation when severe or manifest by multilayering of the basement membranes (glomerular and/or peritubular capillaries) in milder forms of injury. As the injury progresses, the subsequent ischemia, tubular dysfunction, and glomerular scarring can result in CKD or ESRD. Read More

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The effects of exchange transfusion for prevention of complications during pregnancy of sickle hemoglobin C disease patients.

Transfusion 2016 Jan 3;56(1):119-24. Epub 2015 Sep 3.

Hematology and Hemotherapy Center-University of Campinas/Hemocentro-UNICAMP, Instituto Nacional de Ciência e Tecnologia do Sangue, University of Campinas, Campinas, São Paulo, Brazil.

Background: Pregnancy represents a challenge for women with sickle cell disease (SCD), with higher rates of both maternal and fetal complications. The aim of this study was to evaluate the impact of prophylactic transfusion support administered specifically to pregnant women with sickle hemoglobin C disease.

Materials And Methods: Patients were divided into two groups according to the type of transfusion support received: 10 women received prophylactic erythrocytapheresis or manual exchange transfusion at 28 weeks of gestation, and 14 received transfusions only on demand, due to acute complications, or received no transfusions at all. Read More

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January 2016

Hemoglobin C disease.

Barbara J Bain

Am J Hematol 2015 Feb;90(2):174

St Mary's Hospital Campus of Imperial College Faculty of Medicine, St Mary's Hospital, Praed Street, London, N1 1NY, UK.

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February 2015

Red blood cell nitric oxide synthase activation is increased in patients with sickle cell hemoglobin C disease.

Am J Hematol 2015 Feb;90(2):E30-2

UMR Inserm U1134, Université des Antilles et de la Guyane, Pointe-à-Pitre, Guadeloupe, France; Laboratoire d'Excellence du Globule Rouge (LABEX GR-Ex), PRES Sorbonne, Paris, France.

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February 2015

Rheology of red blood cells in patients with HbC disease.

Clin Hemorheol Microcirc 2016 ;61(4):571-7

Inserm U 1134, Université des Antilles et de la Guyane, 97159 Pointe-à-Pitre, Guadeloupe.

Patients with hemoglobin C disease (CC) usually do not develop severe complications in comparison with individuals with sickle cell anemia (SS) or with sickle cell hemoglobin C disease (SC). The present study compared the hematological, biochemical, hemorheological and clinical characteristics of CC patients to those of SS, SC and healthy individuals (AA). Blood viscosity was measured at 225 s(-1) with a cone plate viscometer. Read More

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January 2017

Blood typing profile of a school-aged population of a North Togo township.

Hemoglobin 2014 ;38(5):316-8

Laboratory Hematology the CHU-Sylvanus Olympio , Lomé , Togo .

The aim of this study was the determination of hemoglobin (Hb) variants and ABO blood groups in a school population aged 6 to 9 years in the township of Agbandé-Yaka in North Togo. A cross-sectional study was carried out on 570 children of four primary schools at Agbande-Yaka, between March and July 2010. Hemoglobin characterization was done by alkaline buffer electrophoresis and the blood types ABO-Rhesus (Rh) D by immuno-hematological methods. Read More

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Effects of oxidative stress on red blood cell rheology in sickle cell patients.

Br J Haematol 2014 Aug 23;166(4):601-6. Epub 2014 Apr 23.

Inserm U 1134, Pointe-à-Pitre, Guadeloupe, France; Université des Antilles et de la Guyane, Pointe-à-Pitre, Guadeloupe, France; Laboratory of Excellence GR-Ex, Paris, France.

Sickle cell anaemia (SS) and sickle cell-haemoglobin C disease (SC) patients exhibit severe red blood cell (RBC) rheological alterations involved in the development of several complications. The contribution of oxidative stress in these haemorheological abnormalities is still unknown. We compared RBC reactive oxygen species (ROS) and glutathione (GSH) content, and the haemorheological profile of SS (n = 11), SC (n = 11) and healthy subjects (n = 12) at baseline and after in-vitro treatment with t-butyl hydroperoxide (TBHP). Read More

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