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Sickle cell diseases

Athira Unnikrishnan, J Peter R Pelletier, Shahla Bari, Marc Zumberg, Abbas Shahmohamadi, Bruce D Spiess, Mary Jane Michael, Neil Harris, Danielle Harrell, Molly W Mandernach
BACKGROUND: Delayed hemolytic transfusion reaction (DHTR) with hyperhemolysis is a potentially fatal complication resulting from alloimmunization that can cause severe hemolysis of both transfused and intrinsic red blood cells (RBCs). Patients with sickle cell disease often receive multiple RBC units during their lifetime and thus are likely to develop alloantibodies that increase the risk for DHTR. Treatment to decrease hemolysis includes intravenous immunoglobulin (IVIG), steroids, eculizumab, rituximab, and plasmapheresis in addition to erythropoietin (EPO), intravenous (IV) iron, vitamin B12, and folate to support erythropoiesis...
February 15, 2019: Transfusion
Sayed Abdulazeez, Shaheen Sultana, Noor B Almandil, Dana Almohazey, B Jesvin Bency, J Francis Borgio
BACKGROUND: B-cell lymphoma/leukaemia 11A (BCL11A) is a C2H2-type zinc-finger transcription factor protein that is a critical modulator of haemoglobin switching and suppresses the production of foetal haemoglobin. Variation in the BCL11A gene ameliorates the severity of sickle cell disease (SCD) and β-thalassemia (β-thal). The BCL11A gene is located on chromosome 2p16.1 and encodes an 835-amino acid protein. METHOD: Using state-of-the-art in silico tools, this study examined the most pathogenic non-synonymous single nucleotide polymorphisms (nsSNPs) that disrupt the BCL11A protein and mediate foetal-to-adult globin switching...
2019: PloS One
Jehad Almasri, Mouaffaa Tello, Raed Benkhadra, Allison S Morrow, Bashar Hasan, Wigdan Farah, Neri Alvarez Villalobos, Khaled Mohammed, Jay-Sheree P Allen, Larry J Prokop, Zhen Wang, Bertram L Kasiske, Ajay K Israni, Mohammad Hassan Murad
BACKGROUND: This systematic review was commissioned to identify new variables associated with transplant outcomes that are not currently collected by the Organ Procurement and Transplantation Network (OPTN). METHODS: We identified 81 unique studies including 1,193,410 patients with median follow-up of 36 months posttransplant, reporting 108 unique risk factors. RESULTS: Most risk factors (104) were recipient-related; few (4) were donor-related...
February 6, 2019: Transplantation
Florence Boissier, François Bagate, Matthieu Schmidt, Vincent Labbé, Antoine Kimmoun, Muriel Fartoukh, Armand Mekontso Dessap
OBJECTIVES: Extracorporeal life support could be helpful for severe acute chest syndrome in adults sickle cell disease, because of the frequent hemodynamic compromise in this setting, including acute pulmonary vascular dysfunction and right ventricular failure. The aim of this study was to report the extracorporeal life support experience for severe acute chest syndrome in four referral centers in France. DESIGN: The primary endpoint of this multicentric retrospective study was ICU survival of patients with severe acute chest syndrome managed with extracorporeal life support...
March 2019: Critical Care Medicine
George O Adjei, Seth K Amponsah, Bamenla Q Goka, Christabel Enweronu-Laryea, Lorna Renner, Abdul Malik Sulley, Michael Alifrangis, Jorgen A L Kurtzhals
Background: There is limited information on the safety or efficacy of currently recommended antimalarial drugs in patients with sickle cell disease (SCD), a population predisposed to worse outcomes if affected by acute malaria. Artesunate-amodiaquine (ASAQ) is the first-line treatment for uncomplicated malaria (UM) in many malaria-endemic countries and is also used for treatment of UM in SCD patients. There is, however, no information to date, on the pharmacokinetics (PK) of amodiaquine or artesunate or the metabolites of these drugs in SCD patients...
2019: Current Therapeutic Research, Clinical and Experimental
Patrick Manafa, Chide Okocha, Benedict Nwogho, John Aneke, Paul Smith Davis Okpara, Nancy Lbeh, George Chukwuma, Vera Manafa, Ejike Nwane
Background: Sickle cell disease is characterized by chronic complications that affect almost all body organs. Pancreatic disease is rare in SCD. CA 19-9 is a non-specific surrogate marker for pancreatic disease especially carcinoma. CA 19-9 levels have not been evaluated in SCD patients in our environment. Objectives: The study aimed to compare the levels of CA 19-9 in homozygous sickle cell disease subjects in steady state with those of (Hb AS) and normal healthy subjects (Hb AA)...
December 2018: African Health Sciences
Emuejevoke T Toye, Guido van Marle, Wendy Hutchins, Olayinka Abgabiaje, Joy Okpuzor
Background: Sickle cell anaemia (SCA) is a hereditary blood disorder caused by a single mutation in the haemoglobin gene. The disease burden of SCA is highest in Nigeria. The allele specific polymerase chain reaction (ASPCR) method is applicable for the direct detection of known single nucleotide polymorphisms (SNPs). Objective: To investigate the use of the single tube ASPCR as an accurate and affordable method for SCA screening in Nigeria. Methods: DNA was extracted from study subjects with normal haemoglobin, HbAA (20), sickle cell anaemia, HbSS (20) and carriers, HbAS (1)...
December 2018: African Health Sciences
Jaikumar Ramamoorthy, Amita Trehan, Jasmina Ahluwalia, Paramjeet Singh, Rohit Manoj, Deepak Bansal
Independence from regular transfusions is the hallmark of nontransfusion-dependent thalassemia (NTDT). However, the associated complications need anticipation and screening. One such complication is a hypercoagulable state predisposing to development of thrombosis. We evaluated children with NTDT >10 years of age for prevalence of neuroimaging abnormalities (NIA) and identified associated risk factors. In total, 29 patients were evaluated. Blood counts, serum ferritin, protein C, protein S, antithrombin III, brain magnetic resonance imaging, and angiography was done in all patients...
February 12, 2019: Journal of Pediatric Hematology/oncology
Lilian A Boateng, Andrew D Campbell, Robertson D Davenport, Alex Osei-Akoto, Sheri Hugan, Akwasi Asamoah, Henk Schonewille
BACKGROUND: The routine pretransfusion investigations in Southern Ghana involve only ABO-D blood group typing and ABO compatibility testing without screening for irregular red blood cell (RBC) antibodies. The prevalence and specificities of RBC antibodies and frequencies of most minor blood group antigens in transfused patients with sickle cell disease (SCD) in Ghana are not known and are the objectives of this study. STUDY DESIGN AND METHODS: This was a cross-sectional study that investigated transfused patients with SCD for the presence of irregular RBC antibodies and Rhesus, Kell, Duffy, Kidd, and Ss antigens...
February 13, 2019: Transfusion
Sujata Sinha, Tulika Seth, Roshan B Colah, Alan H Bittles
The Government of India is presently engaged in the implementation of a prevention and control programme for two major forms of haemoglobinopathies, thalassaemia major and sickle cell disease, with guidelines for their prevention and management formulated under the National Health Mission. Based on projections for the population up to the year 2026, the annual blood requirement for treatment will increase to 9.24 million units, together with an 86% increase in budgetary requirements which then would account for over 19% of the current National Health Budget...
February 12, 2019: Journal of Community Genetics
Nadia Scott, Sofya Maslyanskaya
Contraception and sexual health form a key part of comprehensive health care for all adolescents, including those who suffer from chronic illness. Multiple studies have shown that adolescents with chronic illness have rates of sexual activity equal to or greater than their healthy counterparts. Primary care pediatricians have the most comprehensive view of the health of their medically complex patients and the benefit of a longstanding relationship. The Centers for Disease Control and Prevention have created a comprehensive guide that provides advice on safe contraceptive options for patients with complex medical conditions...
February 1, 2019: Pediatric Annals
Lucia De Franceschi, Caterina Lux, Frédéric B Piel, Barbara Gianesin, Federico Bonetti, Maddalena Casale, Giovanna Graziadei, Roberto Lisi, Valeria Pinto, Maria Caterina Putti, Paolo Rigano, Rosellina Rosso, Giovanna Russo, Vincenzo Spadola, Claudio Pulvirenti, Monica Rizzi, Filippo Mazzi, Giovanbattista Ruffo, Gian Luca Forni
No abstract text is available yet for this article.
February 11, 2019: Blood
V Mandese, E Bigi, P Bruzzi, G Palazzi, B Predieri, L Lucaccioni, M Cellini, L Iughetti
BACKGROUND: Children with Sickle Cell Disease (SCD) show endocrine complications and metabolic alterations. The physiopathology of these conditions is not completely understood: iron overload due to chronic transfusions, ischemic damage, and inflammatory state related to vaso-occlusive crises may be involved. Aims of this study were to evaluate the growth pattern, endocrine complications, and metabolic alterations and to detect the relationship between these conditions and the SCD severity in affected children and adolescents...
February 11, 2019: BMC Pediatrics
Athiwat Hutchaleelaha, Mira Patel, Carla Washington, Vincent Siu, Elizabeth Allen, Donna Oksenberg, Daniel D Gretler, Timothy Mant, Josh Lehrer-Graiwer
AIMS: Voxelotor (previously GBT440) is a hemoglobin (Hb) modulator that increases Hb-oxygen affinity, thereby reducing Hb polymerization and sickling of red blood cells (RBCs), being developed as a once-daily oral drug to treat sickle cell disease (SCD). This first-in-human study evaluated the safety, tolerability, pharmacokinetics, and pharmacodynamics of voxelotor in healthy volunteers and SCD patients. METHODS: A total of 40 healthy volunteers (100, 400, 1000, 2000, or 2800 mg) and 8 SCD patients (1000 mg) were randomly assigned to a single dose of voxelotor once daily (n = 6 per group) or placebo (n = 2 per group)...
February 11, 2019: British Journal of Clinical Pharmacology
Asmaa M Zahran, Khalid I Elsayh, Khaled Saad, Mostafa M Embaby, Mervat A M Youssef, Yasser F Abdel-Raheem, Shaban M Sror, Shereen M Galal, Helal F Hetta, Mohamed Diab Aboul-Khair, Mohamd A Alblihed, Amira Elhoufey
Sickle cell disease (SCD) is a genetically inherited hemolytic anemia increasingly appreciated as a chronic inflammatory condition and hypercoagulable state with high thrombotic risk. It is associated with disturbed immune phenotype and function and circulating microparticles (MPs) derived from multiple cell sources. This study was carried out to determine MPs profiles in patients with sickle cell anemia (either on hydroxyurea (HU) therapy or those with no disease-modifying therapy) and to compare these profiles with healthy children...
January 2019: Clinical and Applied Thrombosis/hemostasis
Elena María Rincón-López, María Luisa Navarro Gómez, Teresa Hernández-Sampelayo Matos, Jesús Saavedra-Lozano, Yurena Aguilar de la Red, Belén Hernández Rupérez, Elena Cela de Julián
INTRODUCTION: The rate of bacterial infections in children with sickle cell disease (SCD) has decreased in recent years, mainly due to penicillin prophylaxis and vaccination. OBJECTIVES: To determine the rate of severe bacterial infection (SBI) in a cohort of children with SCD and to describe low-risk factors for confirmed SBI (CSBI) and acute chest syndrome (ACS). METHODS: This 11-year retrospective cohort study included children with febrile SCD admitted to a reference hospital in Spain...
February 10, 2019: Pediatric Blood & Cancer
R M Fasano, J Branscomb, P A Lane, C D Josephson, A B Snyder, J R Eckman
OBJECTIVES: To assess current knowledge of National Heart, Lung and Blood Institutes (NHLBI) and Thalassemia International Federation (TIF) recommendations, blood banking practices and perceived challenges among transfusion services in the management of patients with haemoglobinopathies. BACKGROUND: Previous reports have demonstrated variations in transfusion practices for sickle cell disease (SCD) and thalassemia patients. Recently, NHLBI/TIF have provided transfusion recommendations for patients with haemoglobinopathies...
February 10, 2019: Transfusion Medicine
Grace B Inah, Emmanuel E Ekanem
BACKGROUND: Sickle Cell Disease (SCD) causes chronic haemolysis which is a risk factor for cholelithiasis. AIM: To determine the prevalence and clinical correlates of cholelithiasis in SCD patients in steady state treated at the University of Calabar Teaching Hospital. METHODS: This was a prospective study that took place at the Haematology and sickle cell disease clinics, University of Calabar Teaching Hospital, Calabar, Nigeria between January and June 2018...
January 15, 2019: Open Access Macedonian Journal of Medical Sciences
William H Nugent, Ronald Jubin, Peter J Buontempo, Friedericke Kazo, Bjorn K Song
Hypoxia drives sickle cell disease (SCD) by inducing sickle cell haemoglobin to polymerize and deform red blood cells (RBC) into the sickle shape. A novel carboxyhaemoglobin-based oxygen carrier (PEG-COHb; PP-007) promotes unsickling in vitro by relieving RBC hypoxia. An in vivo rat model of vaso-occlusive crisis (VOC) capable of accommodating a suite of physiological and microcirculatory measurements was used to compare treatment with PEG-COHb to a non-oxygen carrying control solution (lactated ringer's [LRS])...
December 2019: Artificial Cells, Nanomedicine, and Biotechnology
German R Carstens, Bianca B A Paulino, Edgard H Katayama, Luis F Amato-Lourenço, Guilherme H Fonseca, Rogerio Souza, Vera D Aiello, Thais Mauad
Pulmonary complications are frequent in patients with sickle cell disease (SCD), but few studies have described lung pathology in SCD. We studied the lung tissue of 30 deceased SCD patients (1994-2012). Demographics, genotype, clinical characteristics, cause of death and associated conditions are presented. We quantified the presence of pulmonary arterial changes, thrombosis and venous thickening. Alveolar capillary abnormalities were demonstrated using CD34 expression and confocal microscopy. Autopsy and echocardiography reports were reviewed to classify heart abnormalities...
February 10, 2019: British Journal of Haematology
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