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Sickle cell diseases

Matthew S Karafin, Xiaoyun Fu, Angelo D'Alessandro, Tiffany Thomas, Eldad A Hod, James C Zimring, Joshua J Field, Richard O Francis
PURPOSE OF REVIEW: Glucose-6-phosphate dehydrogenase (G6PD) deficiency and sickle cell disease (SCD) cause hemolysis, often occurring in individuals of African descent. These disorders co-occur frequently, and possibly interact, altering clinical outcomes in SCD. However, epidemiological investigations of SCD with G6PD deficiency have produced variable results. This contribution reviews the available data about the interaction of G6PD deficiency and SCD. RECENT FINDINGS: Overall, G6PD deficiency contributes few, if any, effects to laboratory values and clinical outcomes in SCD patients, but may impact transfusion efficacy...
September 18, 2018: Current Opinion in Hematology
Akueté Yvon Segbena, Aldiouma Guindo, Romain Buono, Irénée Kueviakoe, Dapa A Diallo, Gregory Guernec, Mouhoudine Yerima, Pierre Guindo, Emilie Lauressergues, Aude Mondeilh, Valentina Picot, Valériane Leroy
Background: Sickle cell disease (SCD) accounts for 5% of mortality in African children aged < 5 years. Improving the care management and quality of life of patients with SCD requires a reliable diagnosis in resource-limited settings. We assessed the diagnostic accuracy of the rapid Sickle SCAN® point-of-care (POC) test for SCD used in field conditions in two West-African countries. Methods: We conducted a case-control study in Bamako (Mali) and Lomé (Togo)...
2018: BMC Hematology
Helen Rooks, John Brewin, Kate Gardner, Subarna Chakravorty, Stephan Menzel, Anke Hannemann, John Gibson, David C Rees
No abstract text is available yet for this article.
September 20, 2018: Haematologica
Charles Antwi-Boasiako, Andrew D Campbell
Background: Nitric oxide (NO) plays a fundamental role in maintaining normal vasomotor tone. Recent clinical and experimental data suggest that NO may play a role in the pathogenesis and therapy of sickle cell disease (SCD). The aim of this study was to determine NO metabolites (NOx) in SCD patients at steady state and in vaso-occlusive crisis (VOC), as well as those with hemolytic clinical sub-phenotype that includes leg ulcers and priapism. Methodology: This was a case-control cross-sectional study conducted on a total of 694 subjects including 148 comparison group HbAA, 208 HbSS SCD patients in steady state, 82 HbSC SCD patients in steady state, 156 HbSS SCD patients in VOC, 34 HbSC SCD patients in VOC, 34 HbSS SCD patients in post VOC, 21 HbSS SCD patients with leg ulcer and 11 HbSS SCD patients with priapism, with age ranging from 15 to 65 years...
2018: Vascular Health and Risk Management
Juan Manuel Burgos Luna, Diana Marcela Páez Rúa, Ingrid Ruiz Ordoñez, Paula Andrea Fernández, María Fernanda Escobar Vidarte
INTRODUCTION: Sickle cell disease (SCD) is one of the most common monogenic diseases worldwide, affecting approximately 30 million people across the globe. It is one of the most common hemoglobinopathies affecting pregnancy, particularly in the black population. Pregnant women with SCD, in conjunction with the physiological changes of pregnancy, have an increased risk of developing severe maternal and fetal complications. MATERIALS AND METHODS: A descriptive, observational study was conducted retrospectively to determine the maternal and neonatal disease burden of pregnant women with SCD between 2011 and 2016...
September 19, 2018: Journal of Maternal-fetal & Neonatal Medicine
Chiara Dal Zotto, Michele Wieczorek, Gabriele Mariottini, Roberto Malagò, Oliviero Olivieri, Lucia De Franceschi
No abstract text is available yet for this article.
September 19, 2018: American Journal of Hematology
Baba Psalm Duniya Inusa, Atoyebi Wale, Abdul Aziz Hassan, Tushar Idhate, Livingstone Dogara, Ifeoma Ijei, Yewen Qin, Kofi Anie, Juliana Olufunke Lawson, Lewis Hsu
The multiple clinical benefits of hydroxycarbamide in sickle cell disease are supported by a large body of evidence. The maximum tolerated dose (MTD) is the regimen recommended by guidelines from a panel of National Heart, Lung, and Blood Institute (NHLBI) experts, but other dosage regimens have been used in babies (BABY-HUG) 9 to 18 months old (20 mg/kg per day) and developing countries such as India (10 mg/kg per day); however, there has been no direct comparison of the efficacy, effectiveness, or cost-effectiveness of these different regimens...
2018: F1000Research
Guillaume Vignon, Roxane Jeanneau, Julien Labrousse, Sébastien Aubrit, Philippe Mottaz, François Carrère, Pierre-Frédéric Augereau, Philippe Aucher, Franck Lellouche
The most frequent causes of hemolytic anemias are immune or infectious diseases, drug induced hemolysis, thrombotic microangiopathies, hereditary spherocytosis, glucose-6-phosphate dehydrogenase or pyruvate kinase deficiencies, thalassemia's and sickle cell disease. Sometimes no cause is found because a rarer etiology is involved. The goal of this review is to remember some unfrequent constitutional or acquired causes and to point out difficulties to avoid wrong interpretations of analysis results.
October 1, 2018: Annales de Biologie Clinique
Vadivel Masilamani, Sandanasamy Devanesan, Fatma AlQathani, Mashael AlShebly, Hebatullah Hassan Daban, Duran Canatan, Karim Farhat, Mansour Jabry, Mohamad S AlSalhi
Sickle cell anemia (SCA) is an inherited blood disorder with worldwide incidence of 15%; out of this, it is found in up to 20% in countries like Kingdom of Saudi Arabia and Bahrain. The standard conventional method of detection is complete blood count (CBC) followed by hemoglobin electrophoresis or high-performance liquid chromatography (HPLC) or both. In this context, spectral detection of variants of sickle cell anemia (SCA) is an innovative technique, which when made accurate and reliable could be an effective alternative, since the instrumentation is compact (5 kg) and hence portable...
2018: Disease Markers
Anahita Chauhan, Madhva Prasad
Purpose: The objective was to observe the characteristics among pregnant patients with a diagnosed hemoglobinopathy and to study the obstetric and medical morbidity patterns during the antenatal and the perinatal periods in this group of patients. Methods: A prospective observational study was conducted in a tertiary care center. Results: Sixty patients were studied in 11 months. Primigravidae (43.3%) formed the highest percentage of patients...
October 2018: Journal of Obstetrics and Gynaecology of India
Xinyue Yang, Yan Cheng, Guanfang Su
Angiopoietin-like protein 4 is a multifunctional cytokine regulating vascular permeability, angiogenesis, and inflammation. Dysregulations on these responses contribute to the pathogenesis of ischemic retinopathies such as diabetic retinopathy, age-related macular degeneration, retinal vein occlusion and sickle cell retinopathy. However, the role of ANGPTL4 in these diseases remains controversial. Here, we summarize the functional mechanisms of ANGPTL4 in several diseases. We highlight original studies that provide detailed data about the mechanisms of action for ANGPTL4, its applications as a diagnostic or prognostic biomarker, and its use as a potential therapeutic target...
September 17, 2018: Bioscience Reports
Wadha Alotaibi, Safa Eltahir, Mohmmed Rayis, Khalid Al-Mobaireek, Ayah Alsarheed, Gawahir Mukhtar, Jumageldi Jumayev, Suhail Al-Saleh
OBJECTIVE: The aim of the study was to evaluate snoring and obstructive sleep apnea (OSA) in Saudi children with sickle cell disease (SCD). MATERIALS AND METHODS: This cross-sectional study was conducted among children with SCD attending a hematology clinic were recruited. Demographics, clinical data, and sleep questionnaires were collected and overnight polysomnographies performed. RESULTS: Seventy children (31 of whom were females) with SCD were included in the study...
September 2018: Journal of Family & Community Medicine
Felipe Vendrame, Leticia Olops, Sara Teresinha Olalla Saad, Fernando Ferreira Costa, Kleber Yotsumoto Fertrin
BACKGROUND: High blood cholesterol is associated with atherogenesis and endothelial dysfunction. The latter is present in hemolytic diseases, such as sickle cell anemia, whose carriers have hypocholesterolemia and low incidence of coronary artery disease. OBJECTIVE: We aimed to characterize cholesterol fractions in patients with sickle cell disease and explore the relationship among lipoproteins, varying degrees of hemolysis, and its biomarkers. METHODS: We recruited 37 healthy individuals, 39 with hemoglobin SC disease, and 40 with sickle cell anemia and quantified cholesterol fractions, heme resulting from hemoglobin breakdown, and its main scavenger protein hemopexin...
August 14, 2018: Journal of Clinical Lipidology
Martin F Arlt, Sountharia Rajendran, Sandra N Holmes, Kathleen Wang, Ingrid L Bergin, Samreen Ahmed, Thomas E Wilson, Thomas W Glover
Copy number variants (CNVs) are important in genome variation and genetic disease, with new mutations arising frequently in the germline and somatic cells. Replication stress caused by aphidicolin and hydroxyurea (HU) is a potent inducer of de novo CNVs in cultured mammalian cells. HU is used extensively for long-term management of sickle cell disease. Here, we examined the effects of HU treatment on germline CNVs in vivo in male mice to explore whether replication stress can act as a CNV mutagen in germline mitotic divisions as in cultured cells and whether this would support a concern for increased CNV mutations in offspring of men treated with HU...
September 15, 2018: Environmental and Molecular Mutagenesis
Nasir Al-Allawi, Shatha M A Qadir, Helene Puehringer, David H K Chui, John J Farrell, Christian Oberkanins
INTRODUCTION: Fetal hemoglobin (HbF) is the major modifier for sickle cell disease (SCD) severity. HbF is modulated mainly by three major quantitative trait loci (QTL) on chromosomes 2, 6, and 11. METHODS: Five SNPs in the three QTLs (HBG2, rs7482144; BCL11A, rs1427407 and rs10189857; and HBS1L-MYB intergenic region, rs28384513 and rs9399137) were investigated by multiplex PCR and reverse hybridization, and their roles in HbF and clinical phenotype variability in Iraqi Kurds with SCD were assessed...
September 14, 2018: International Journal of Laboratory Hematology
Pascale Grégoire-Pelchat, Nathalie Alos, Virginie Ribault, Yves Pastore, Nancy Robitaille, Geneviève Mailhot
Sickle cell disease (SCD) and vitamin D deficiency share manifestations such as bone complications and bony pains. Canadian SCD children are characterized by compromised sun exposure all year long and potential dietary deficiency, which combined to SCD-causing high nutritional demands, may lead to impaired vitamin D status. The objectives of this study were to document vitamin D status and intake and assess the relationship between vitamin D status and SCD-related outcomes in Canadian children with SCD followed in a tertiary pediatric center...
September 7, 2018: Journal of Pediatric Hematology/oncology
Sophia Delicou, Konstantinos Maragkos, Maria Tambaki, Dimitrios Kountouras, John Koskinas
Sickle cell disease patients often need regular blood transfusions to improve both the quality of life and survival from the veno-occlusive complications of the disease. Deferasirox, a convenient long acting oral agent, has recently been introduced in clinical practice with promising efficacy. This study aims to evaluate the association of liver stiffness and possible fibrosis with iron deposition and confirm the use of elastography as a validated test of responding to chelation with low cost and easy access...
2018: Mediterranean Journal of Hematology and Infectious Diseases
Marcos Almeida Matos, Luanne Lisle Dos Santos Silva, Giordano Bruno Alves, Walter Silva de Alcântara, Davi Veiga
Objective: To verify the impact of avascular necrosis of the femoral head on the quality of life of children and adolescents with Perthes disease and sickle cell disease. Methods: A comparative study including 24 children between eight and 18 years old with avascular necrosis of the femoral head secondary to Perthes disease and sickle cell disease (Group with Necrosis) and 24 children considered asymptomatic (Group without Necrosis). Clinical and sociodemographic data were collected and the PedsQL 4...
2018: Acta Ortopedica Brasileira
Elizabeth Biller, Yong Zhao, Mary Berg, Lisa Boggio, Kelley E Capocelli, Deanna C Fang, Scott Koepsell, Lejla Music-Aplenc, Huy P Pham, Angela Treml, John Weiss, Geoffrey Wool, Beverly W Baron
BACKGROUND: A prior practice survey revealed variations in the management of patients with sickle cell disease (SCD) and stressed the need for comprehensive guidelines. Here we discuss: 1) common indications for red blood cell exchange (RCE), 2) options for access, 3) how to prepare the red blood cells (RBCs) to be used for RCE, 4) target hemoglobin (Hb) and/or hematocrit (Hct) and HbS level, 5) RBC depletion/RCE, and 6) some complications that may ensue. STUDY DESIGN AND METHODS: Fifteen physicians actively practicing apheresis from 14 institutions representing different areas within the United States discussed how they manage RCE for patients with SCD...
August 2018: Transfusion
Shu Kwun Lui, Alyssa Krasinskas, Rushikesh Shah, Jessica M Tracht
Sickle cell disease has a wide range of hepatic manifestations, with acute intrahepatic cholestasis being one of the rarest and most fatal, often resulting in acute fulminant hepatic failure. Liver transplantation is an emerging but rarely utilized treatment for hepatic failure in the setting of sickle cell disease. Few such cases have been reported in the literature, with little emphasis on histopathologic correlation. We report a case of acute intrahepatic cholestasis in a patient with sickle cell disease who underwent orthotropic liver transplantation and describe novel correlating histopathologic features...
September 10, 2018: International Journal of Surgical Pathology
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