25,753 results match your criteria Sickle Cell Anemia


Non-S Sickling Hemoglobin Variants: Historical, Genetic, Diagnostic, and Clinical Perspectives.

Oman Med J 2021 May 31;36(3):e261. Epub 2021 May 31.

Department of Pediatrics, Aminu Kano Teaching Hospital, Kano State, Nigeria.

Apart from hemoglobin-S (HbS), there are other Hb variants (non-S sickling Hb variants) that cause sickle cell disease. However, the profiles of these non-S sickling Hb variants have neither been collated nor harmonized. A literature search revealed 14 non-S sickling Hb variants (HbC-Harlem, HbC-Ziguinchor, HbS-Travis, HbS-Antilles, HbS-Providence, HbS-Oman, HbS-Cameroon, HbS-South End, Hb Jamaica Plain, HbC-Ndjamena, HbS-Clichy, HbS-San Martin, HbS-Wake, and HbS-São Paulo). Read More

View Article and Full-Text PDF

Risk factors for CKD stage II onset in a prospective cohort of homozygous sickle cell adults.

Am J Hematol 2021 Jun 10. Epub 2021 Jun 10.

Service d'Explorations Fonctionnelles Multidisciplinaires, Paris, France.

Prevalence of renal impairment is increasing with aging in sickle cell anemia (SCA) patients responsible for a high morbidity and mortality. However, sickle cell nephropathy natural course remains mostly unknown. We conducted a prospective observational cohort study aimed to identify risk factors for CKD stage II in a cohort of SCA patients. Read More

View Article and Full-Text PDF

Prolonged QTc Interval in Nigerian Children with Sickle Cell Anemia.

Hemoglobin 2021 Jun 10:1-6. Epub 2021 Jun 10.

Department of Paediatrics, University of Calabar Teaching Hospital, Calabar, Nigeria.

Prolonged QTc interval, a risk factor for ventricular arrhythmia, occurs in sickle cell anemia. The aim of this study was to determine the risk of prolonged QTc interval and its relationship with vaso-occlusive painful crises (VOCs) and follow-up steady-state in the same children with sickle cell anemia. This prospective cohort study enrolled 38 subjects, aged 5-17 years. Read More

View Article and Full-Text PDF

FnCas9 based CRISPR diagnostic for rapid and accurate detection of major SARS-CoV2 variants on a paper strip.

Elife 2021 Jun 9;10. Epub 2021 Jun 9.

Genomics and Molecular Medicine, CSIR Institute of Genomics and Integrative Biology, New Delhi, India.

The COVID-19 pandemic originating in the Wuhan province of China in late 2019 has impacted global health, causing increased mortality among elderly patients and individuals with comorbid conditions. During the passage of the virus through affected populations, it has undergone mutations, some of which have recently been linked with increased viral load and prognostic complexities. Several of these variants are point mutations that are difficult to diagnose using the gold standard quantitative real-time PCR (qRT-PCR) method and necessitates widespread sequencing which is expensive, has long turn-around times, and requires high viral load for calling mutations accurately. Read More

View Article and Full-Text PDF

Evaluation of point-of-care International Normalized Ratio in sickle cell disease.

Res Pract Thromb Haemost 2021 May 27;5(4):e12533. Epub 2021 May 27.

Department of Pharmacy Practice College of Pharmacy University of Illinois at Chicago Chicago IL USA.

Background: Point-of-care (POC) International Normalized Ratio (INR) measurement provides efficient monitoring of warfarin therapy; however, its reliability may be affected in patients with anemia, such as those with sickle cell disease (SCD).

Objectives: To evaluate the correlation of POC-INR to clinical laboratory INR (CL-INR) in SCD and use of a correction factor.

Patient/methods: In this retrospective study, the accuracy of POC-INR compared to CL-INR was evaluated in a cohort of patients with SCD and in a non-SCD Black cohort. Read More

View Article and Full-Text PDF

Lower hair cortisol among patients with sickle cell disease may indicate decreased adrenal reserves.

Am J Blood Res 2021 15;11(2):140-148. Epub 2021 Apr 15.

Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health Bethesda, Maryland, USA.

Introduction: Sickle cell disease (SCD) is a chronic illness that presents with a wide range of phenotypic variation. Stress may be a contributing factor to differences that are found in this population.

Objectives: Our objective is to determine the relationship between hair cortisol content (HCC), a biomarker of stress, and other clinical measures in individuals with SCD. Read More

View Article and Full-Text PDF

Trends in Technology Assistance Among Patients With Childhood Onset Chronic Conditions.

Hosp Pediatr 2021 Jun 2. Epub 2021 Jun 2.

Divisions of Hospital Based Medicine and.

Objective: To describe the prevalence, types, and trends over time of medical technology assistance (TA) in patients at the age of transition to adult care with childhood onset chronic conditions (COCCs) cared for at children's hospitals.

Patients And Methods: In this retrospective repeated annual cross-sectional cohort study of the Pediatric Health Information Systems inpatient data, patients with at least 1 hospitalization from January 1, 2008, to December 31, 2018 with a selected COCC were included. The COCCs investigated were brain and spinal cord malformation, cerebral palsy, heart and great vessel malformation, cystic fibrosis, sickle cell anemia, and chronic renal failure. Read More

View Article and Full-Text PDF

Stroke and stroke prevention in sickle cell anemia in developed and selected developing countries.

J Neurol Sci 2021 May 26;427:117510. Epub 2021 May 26.

Division of Pediatric Hematology Oncology, Miller School of Medicine, University of Miami, Miami, FL, USA.. Electronic address:

This comprehensive review provides an insight into the pathophysiology, epidemiology, evaluation, and treatment of sickle cell anemia (SCA)-related stroke in developed and developing countries. Vascular injury, hypercoagulability and vaso-occlusion play a role in the pathophysiology of stroke in SCA. Transcranial Doppler ultrasound (TCD) has lowered the incidence of ischemic stroke from 11% to 1% as TCD identifies children who are at risk for stroke, providing opportunities for interventions to reduce this risk. Read More

View Article and Full-Text PDF

Live birth following preimplantation genetic testing to prevent sickle cell disease in a low resource setting: A case report.

Afr J Reprod Health 2020 Dec;24(4):218-220

Department of Reproductive Medicine & Cell Genomics, Nisa Premier Hospital, Abuja, Nigeria.

Preimplantation genetic testing for monogenic disorders (PGT-M) can detect sickle cell disease (HbSS) in embryos during In-Vitro Fertilization (IVF), to ensure the birth of unaffected children. The prevalence of haemoglobin S gene (HbS) is high in Nigeria and Sub-Saharan Africa, but access to PGT-M services in the setting is limited. A couple with the sickle cell trait (HbAS) had IVF, following which 12 embryos were biopsied and the corresponding cells analyzed using minisequencing for whole genome amplification and polymerase chain reaction (PCR) to determine each embryo's haemoglobin (Hb) genotype. Read More

View Article and Full-Text PDF
December 2020

Red Blood Cells: Tethering, Vesiculation, and Disease in Micro-Vascular Flow.

Diagnostics (Basel) 2021 May 27;11(6). Epub 2021 May 27.

Department of Bioengineering, University of California, San Diego, CA 92093-0412, USA.

The red blood cell has become implicated in the progression of a range of diseases; mechanisms by which red cells are involved appear to include the transport of inflammatory species via red cell-derived vesicles. We review this role of RBCs in diseases such as diabetes mellitus, sickle cell anemia, polycythemia vera, central retinal vein occlusion, Gaucher disease, atherosclerosis, and myeloproliferative neoplasms. We propose a possibly unifying, and novel, paradigm for the inducement of RBC vesiculation during vascular flow of red cells adhered to the vascular endothelium as well as to the red pulp of the spleen. Read More

View Article and Full-Text PDF

Dietary ω-3 Fatty Acid Supplementation Improves Murine Sickle Cell Bone Disease and Reprograms Adipogenesis.

Antioxidants (Basel) 2021 May 18;10(5). Epub 2021 May 18.

Department of Medicine, University of Verona and Azienda Ospedaliera Universitaria Integrata Verona, 37128 Verona, Italy.

Sickle cell disease (SCD) is a genetic disorder of hemoglobin, leading to chronic hemolytic anemia and multiple organ damage. Among chronic organ complications, sickle cell bone disease (SBD) has a very high prevalence, resulting in long-term disability, chronic pain and fractures. Here, we evaluated the effects of ω-3 (fish oil-based, FD)-enriched diet vs. Read More

View Article and Full-Text PDF

Genotypic Diversity among Angolan Children with Sickle Cell Anemia.

Int J Environ Res Public Health 2021 May 19;18(10). Epub 2021 May 19.

H&TRC-Health & Technology Research Center, ESTeSL-Escola Superior de Tecnologia da Saúde, Instituto Politécnico de Lisboa, 1990-096 Lisbon, Portugal.

Background: Sickle cell anemia (SCA) is an inherited blood disorder that affects over 300,000 newborns worldwide every year, being particularly prevalent in Sub-Saharan Africa. Despite being a monogenic disease, SCA shows a remarkably high clinical heterogeneity. Several studies have already demonstrated the existence of some polymorphisms that can provide major clinical benefits, producing a mild phenotype. Read More

View Article and Full-Text PDF

Is Skeletal Muscle Dysfunction a Limiting Factor of Exercise Functional Capacity in Patients with Sickle Cell Disease?

J Clin Med 2021 May 22;10(11). 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, 69100 Villeurbanne, France.

Patients with sickle cell disease (SCD) have reduced functional capacity due to anemia and cardio-respiratory abnormalities. Recent studies also suggest the presence of muscle dysfunction. However, the interaction between exercise capacity and muscle function is currently unknown in SCD. Read More

View Article and Full-Text PDF

Techniques for the Detection of Sickle Cell Disease: A Review.

Micromachines (Basel) 2021 May 5;12(5). Epub 2021 May 5.

Department of Chemistry, Alfaisal University, Al Zahrawi Street, Al Maather, AlTakhassusi Rd, Riyadh 11533, Saudi Arabia.

Sickle cell disease (SCD) is a widespread disease caused by a mutation in the beta-globin gene that leads to the production of abnormal hemoglobin called hemoglobin S. The inheritance of the mutation could be homozygous or heterozygous combined with another hemoglobin mutation. SCD can be characterized by the presence of dense, sickled cells that causes hemolysis of blood cells, anemia, painful episodes, organ damage, and in some cases death. Read More

View Article and Full-Text PDF

Quantification of Cellular Densities and Antigenic Properties using Magnetic Levitation.

J Vis Exp 2021 May 17(171). Epub 2021 May 17.

Department of Medicine, Division of Allergy and Inflammation, Beth Israel Deaconess Medical Center;

The described method was developed based on the principles of magnetic levitation, which separates cells and particles based on their density and magnetic properties. Density is a cell type identifying property, directly related to its metabolic rate, differentiation, and activation status. Magnetic levitation allows a one-step approach to successfully separate, image and characterize circulating blood cells, and to detect anemia, sickle cell disease, and circulating tumor cells based on density and magnetic properties. Read More

View Article and Full-Text PDF

Short report: Aqueous extract of chives (Allium schoenoprasum L.) plant impairs erythrocyte deformability in sickle cell patients.

Clin Hemorheol Microcirc 2021 May 23. Epub 2021 May 23.

Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM) EA7424, Team laquoVascular Biology and Red Blood Cellraquo, Université Claude Bernard Lyon 1, Lyon, France.

Sickle cell anemia (SCA) is a genetic disorder characterized by chronic hemolysis and the presence of erythrocytes with low deformability, which may trigger vaso-occlusive crises. We tested the in-vitro effects of aqueous extract of vhives (Allium schoenoprasum L.) on erythrocyte deformability of SCA patients. Read More

View Article and Full-Text PDF

Clinical Utilities of Electrocardiography in the Diagnosis of Myocardial Ischemia in Children With Sickle Cell Anemia: Correlation With Serum Cardiac Troponin I.

J Pediatr Hematol Oncol 2021 May 31. Epub 2021 May 31.

Department of Pediatrics, Ekiti State University Department of Pediatrics, Ekiti State University Teaching Hospital, Ado-Ekiti Department of Pediatrics and Child Health, Obafemi Awolowo University Departments of Pediatrics Chemical Pathology, Obafemi Awolowo University Teaching Hospitals Complex, Ile-Ife, Nigeria.

Background: Sickle cell anemia (SCA) is associated with recurrent vaso-occlusive crisis (VOC) and the risk of myocardial ischemia (MI). This study investigated the utility of electrocardiography (ECG) and cardiac troponin I (cTnI) in diagnosing MI during VOC.

Materials And Methods: Children with SCA 5 to 15 years of age in VOC (patients) and age-matched and sex-matched steady-state controls were studied. Read More

View Article and Full-Text PDF

Transcranial Doppler Ultrasonography Imaging Studies in Children with Sickle Cell Anaemia in a Tertiary Hospital, Abuja, Nigeria.

West Afr J Med 2021 May;38(5):460-464

Department of Paediatrics, National Hospital, Abuja, Nigeria.

Background: Stroke risk in sickle cell anaemia (SCA) can be detected by abnormalities of cerebral blood flow velocities (CBFV), measurable by Transcranial Doppler Imaging (TCDI) ultrasonography. This has become an important strategy in the routine care of children with SCA globally.

Objectives: To determine the pattern of CBFV and document the proportion of children with SCA at risk of stroke at National Hospital Abuja (NHA), Nigeria using TCDI. Read More

View Article and Full-Text PDF

Gene therapy as the new frontier for Sickle Cell Disease.

Curr Med Chem 2021 May 26. Epub 2021 May 26.

CSL Behring, 1020 1St Ave, King of Prussia, PA 19406, United States.

Sickle Cell Disease (SCD) is one of the most common monogenic disorders caused by a point mutation in the β-globin gene. This mutation results in polymerization of hemoglobin (Hb) under reduced oxygenation conditions, causing rigid sickle-shaped RBCs and hemolytic anemia. This clearly defined fundamental molecular mechanism makes SCD a prototypical target for precision therapy. Read More

View Article and Full-Text PDF

Targeting K3.1 Channels in Cancer.

Cell Physiol Biochem 2021 May;55(S3):131-144

Institut für Physiologie II, Westfälische Wilhelms-Universität Münster, Münster, Germany,

The K3.1 channels, previously designated as IK1 or SK4 channels and encoded by the KCNN4 gene, are activated by a rise of the intracellular Ca concentration. These K channels are widely expressed in many organs and involved in many pathologies. Read More

View Article and Full-Text PDF

Towards manufactured red blood cells for the treatment of inherited anemia.

Haematologica 2021 May 27. Epub 2021 May 27.

School of Biochemistry, Biomedical Sciences Building; National Institute for Health Research (NIHR) Blood and Transplant Research Unit in Red Blood Cell Products, University of Bristol; Bristol Institute of Transfusion Sciences, NHSBT Filton. Bristol.

Patients with inherited anemia and hemoglobinopathies (such as sickle cell disease and β-thalassemia) are treated with red blood cell (RBC) transfusions to alleviate their symptoms. Some of these patients may have rare blood group types or go on to develop alloimmune reactions, which can make it difficult to source compatible blood in the donor population. Laboratory-grown RBC represent a particularly attractive alternative which could satisfy an unmet clinical need. Read More

View Article and Full-Text PDF

Tackling the Menace of Anemia and Hemoglobinopathies among Young Adults - Conceptualizing University-Level Screening.

Indian J Community Med 2021 Jan-Mar;46(1):117-120. Epub 2021 Mar 1.

Centre of Research for Development, Mentor-Interdisciplinary and Action Research, Parul University, Vadodara, Gujarat, India.

Background: National family health survey-4 data suggests alarmingly high prevalence of anemia among adult population. Hemoglobinopathies such as thalassemias and structural hemoglobin (Hb) variants are the commonly seen autosomal, recessively inherited, monogenic disorders of Hb production, and pose a significant health burden in India. Premarriage screening for thalassemia would help to prevent such marriage, reduce health and financial burdens. Read More

View Article and Full-Text PDF

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

Eur J Appl Physiol 2021 May 22. 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

View Article and Full-Text PDF

Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general population.

Hum Reprod 2021 May 22. Epub 2021 May 22.

GeneraLife, Center for Reproductive Medicine, Clinica Valle Giulia, Rome, Italy.

Study Question: What is the clinical validity and utility of preconception Expanded Carrier Screening (ECS) application on the management of prospective parents?

Summary Answer: The high detection rate of at-risk couples (ARCs) and the high proportion opting for IVF/preimplantation genetic testing (PGT) treatment demonstrate the clinical utility of ECS in the preconception space in IVF and general population.

What Is Known Already: About 2-4% of couples are at risk of conceiving a child with an autosomal recessive or X-linked genetic disorder. In recent years, the increasing cost-effectiveness of genetic diagnostic techniques has allowed the creation of ECS panels for the simultaneous detection of multiple recessive disorders. Read More

View Article and Full-Text PDF

Rapid and automated quantitation of dense red blood cells: A robust biomarker of hydroxyurea treatment response.

Blood Cells Mol Dis 2021 May 11;90:102576. Epub 2021 May 11.

Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States of America; Division of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States of America; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, United States of America. Electronic address:

View Article and Full-Text PDF

Engaging Caregivers and Providers of Children With Sickle Cell Anemia in Shared Decision Making for Hydroxyurea: Protocol for a Multicenter Randomized Controlled Trial.

JMIR Res Protoc 2021 May 21;10(5):e27650. Epub 2021 May 21.

Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, United States.

Background: Sickle cell anemia (SCA) is a genetic blood disorder that puts children at a risk of serious medical complications, early morbidity and mortality, and high health care utilization. Until recently, hydroxyurea was the only disease-modifying treatment for this life-threatening disease and has remained the only option for children younger than 5 years. Evidence-based guidelines recommend using a shared decision-making (SDM) approach for offering hydroxyurea to children with SCA (HbSS or HbS/β0 thalassemia) aged as early as 9 months. Read More

View Article and Full-Text PDF

Multi-ancestry genome-wide association study identifies 27 loci associated with measures of hemolysis following blood storage.

J Clin Invest 2021 May 20. Epub 2021 May 20.

Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, United States of America.

The evolutionary pressure of endemic malaria and other erythrocytic pathogens has shaped variation in genes encoding erythrocyte structural and functional proteins, influencing responses to hemolytic stress during transfusion and disease. We sought to identify such genetic variants in blood donors by conducting a genome-wide association study (GWAS) of 12,353 volunteer donors, including 1,483 African Americans, 1,477 Asians, and 960 Hispanics, whose stored erythrocytes were characterized by quantitative assays of in vitro osmotic, oxidative, and cold-storage hemolysis. GWAS revealed 27 significant loci (p<5×10-8), many in candidate genes known to modulate erythrocyte structure, metabolism, and ion channels, including SPTA1, ALDH2, ANK1, HK1, MAPKAPK5, AQP1, PIEZO1, and SLC4A1/Band 3. Read More

View Article and Full-Text PDF

Sickle Cell Disease in Jordan: The Experience of a Major Referral Center.

Med Arch 2021 Feb;75(1):27-30

Department of Mathematics, Al-Zaytoonah University of Jordan, Amman, Jordan.

Introduction: Sickle cell disorders are the most frequently encountered hemoglobin variants in Jordan. Both alpha and beta thalassemias are also prevalent in this population. However, studies on the interaction between these hemoglobin disorders are lacking. Read More

View Article and Full-Text PDF
February 2021

Acyclovir induces fetal hemoglobin via downregulation of γ-globin repressors, BCL11A and SOX6 trans-acting factors.

Biochem Pharmacol 2021 May 16;190:114612. Epub 2021 May 16.

Dr. Panjwani Center for Molecular Medicine and Drug Research, International Center for Chemical and Biological Sciences, University of Karachi, Karachi 75270, Pakistan; H.E.J. Research Institute of Chemistry, International Center for Chemical and Biological Sciences, University of Karachi, Karachi 75270, Pakistan. Electronic address:

Pharmacological reactivation of developmentally silenced fetal hemoglobin (HbF) is an attractive approach to ameliorate the clinical manifestations of β-thalassemia and sickle cell anemia. Hydroxyurea, the only HbF inducer, has obtained regulatory approval. However, hydroxyurea non-responders and associated myelosuppression making its widespread use undesirable. Read More

View Article and Full-Text PDF

Blood pressure, hematologic and biochemical changes following L-arginine supplementation in children with sickle cell anaemia already on hydroxyurea therapy.

Niger J Physiol Sci 2020 Dec 31;35(2):131-134. Epub 2020 Dec 31.

.

Hydroxyurea is an approved therapy in the management of children suffering from sickle cell disease (SCD). In adults co-administration of hydroxyurea and L-Arginine in adult sufferers of SCD had shown some benefits. This study examined the effect of co-administration of hydroxyurea (15-35mg/kg/day) and L-Arginine (500 mg/day) for 6 weeks on blood pressure, haematological parameters, liver and antioxidant enzymes levels. Read More

View Article and Full-Text PDF
December 2020