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Aikaterini Gravia, Vasiliki Chondrou, Alexandra Kolliopoulou, Alexandra Kourakli, Anne John, Argyris Symeonidis, Bassam R Ali, Argyro Sgourou, Adamantia Papachatzopoulou, Theodora Katsila, George P Patrinos
AIMS: Hemoglobinopathies, particularly β-thalassemia and sickle cell disease, are characterized by great phenotypic variability in terms of disease severity, while notable differences have been observed in hydroxyurea treatment efficacy. In both cases, the observed phenotypic diversity is mostly dependent on the elevated fetal hemoglobin levels, resulting from the persistent fetal globin gene expression in the adult erythroid stage orchestrated by intricate mechanisms that still remain only partly understood...
October 21, 2016: Pharmacogenomics
Marina Cavazzana, Jean-Antoine Ribeil, Chantal Lagresle-Peyrou, Isabelle André-Schmutz
When considering inherited diseases that can be treated by gene transfer into Hematopoietic stem cells (HSCs), there are only two in which the HSC and progenitor cell distribution inside the bone marrow and its microenvironment are exactly the same as in a healthy subject: metachromatic leukodystrophy (MLD) and ALD. In all other settings (X-linked severe combined immunodeficiency (SCID-X1), adenosine deaminase deficiency, Wiskott-Aldrich syndrome and β-hemoglobinopathies), the bone marrow content of the different stem and precursor cells and the cells' relationship with the stroma have very specific characteristics...
October 17, 2016: Stem Cells and Development
Andrew C Dietz, Christine N Duncan, Blanche P Alter, Dorine Bresters, Morton J Cowan, Luigi Notarangelo, Philip S Rosenberg, Shalini Shenoy, Roderick Skinner, Mark C Walters, John Wagner, K Scott Baker, Michael A Pulsipher
An international consensus conference sponsored by the Pediatric Blood and Marrow Transplant consortium entitled, "Late Effects Screening and Recommendations Following Allogeneic Hematopoietic Cell Transplant for Immune Deficiency and Non-malignant Hematologic Disease was held in Minneapolis, Minnesota on May 10-11, 2016. The purpose of the conference was to address the unmet need for a greater understanding of and the screening for long-term complications in the growing population of survivors of transplantation for non-malignant disorders...
October 10, 2016: Biology of Blood and Marrow Transplantation
Xiaotang Hu
Since 2012, the CRISPR-Cas9 system has been quickly and successfully tested in a broad range of organisms and cells including hematopoietic cells. The application of CRISPR-Cas9 in human hematopoietic cells mainly involves the genes responsible for HIV infection, β-thalassemia and sickle cell disease (SCD). The successful disruption of CCR5 and CXCR4 genes in T cells by CRISPR-Cas9 promotes the prospect of the technology in the functional cure of HIV. More recently, eliminating CCR5 and CXCR4 in induced pluripotent stem cells (iPSCs) derived from patients and targeting the HIV genome have been successfully carried out in several laboratories...
October 2, 2016: Blood Cells, Molecules & Diseases
Arun Karthik M, Raveendran, Manshur, Uvaraj Muruganantham
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Shouichi Ohga
Congenital hemolytic anemia is a group of monogenic diseases presenting with anemia due to increased destruction of circulating erythrocytes. The etiology of inherited anemia accounts for germline mutations of the responsible genes coding for the structural components of erythrocytes and extra-erythrocytes. The erythrocyte abnormalities are classified into three major disorders of red cell membrane defects, hemoglobinopathies, and red cell enzymopathies. The extra-erythrocyte abnormalities, typified by consumption coagulopathy and intravascular hemolysis, include Upshaw-Schulman syndrome and atypical hemolytic uremic syndrome...
2016: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
Melvin Khee Shing Leow
BACKGROUND AND PURPOSE: Glycated hemoglobin (HbA1c) reflects the cumulative glucose exposure of erythrocytes over a preceding time frame proportional to erythrocyte survival. HbA1c is thus an areal function of the glucose-time curve, an educationally useful concept to aid teaching and clinical judgment. METHODS: An ordinary differential equation is formulated as a parsimonious model of HbA1c. The integrated form yields HbA1c as an area-under-the-curve (AUC) of a glucose-time profile...
July 16, 2016: Acta Informatica Medica: AIM
Krzysztof Mikołajczyk, Radosław Kaczmarek, Marcin Czerwiński
Transcription factor EKLF (Erythroid Krüppel-Like Factor) belongs to the group of Krüppellike factors, which regulate proliferation, differentiation, development and apoptosis of mammalian cells. EKLF factor is present in erythroid cells, where it participates in regulation of hematopoiesis, expression of genes encoding transmembrane proteins (including blood group antigens), and heme biosynthesis enzymes. It is also a key factor in downregulation of γ-globins and activation of β-globin gene expression...
October 6, 2016: Postȩpy Higieny i Medycyny Doświadczalnej
Michael A Goodman, Punam Malik
Hemoglobinopathies, including β-thalassemia and sickle cell disease (SCD), are a heterogeneous group of commonly inherited disorders affecting the function or levels of hemoglobin. Disease phenotype can be severe with substantial morbidity and mortality. Bone marrow transplantation is curative, but limited to those patients with an appropriately matched donor. Genetic therapy, which utilizes a patient's own cells, is thus an attractive therapeutic option. Numerous therapies are currently in clinical trials or in development, including therapies utilizing gene replacement therapy using lentiviruses and the latest gene editing techniques...
October 2016: Therapeutic Advances in Hematology
Vicky Jocelyne Ama Moor, Constant Anatole Pieme, Bernard Chetcha Chemegne, Helene Manonji, Borgia Legrand Njinkio Nono, Corine Tchoula Mamiafo, Bruno Moukette Moukette, Francine Tankeu Nzufo, Asonganyi Tazoacha
BACKGROUND: Sickle cell disease (SCD) is a class of hemoglobinopathy resulting from a single mutation in the ß-globin chain inducing the substitution of valine for glutamic acid at the sixth amino acid position which leads to the production of abnormal haemoglobin (haemoglobin S [HbS]). Studies demonstrated the implication of oxidative stress in the development of the sickle cell disease. METHODS: The study aim was to determine the level of oxidative stress markers in a group of sickle cell homozygous patients (SS) in the Yaounde Central Hospital above 15 years of age...
2016: BMC Clinical Pathology
Salwa Al Najjar, Soheir Adam, Nessar Ahmed, Mohamed Qari
Sickle cell disease (SCD) is an autosomal recessive inherited hemoglobinopathy, characterized by chronic hemolysis and recurrent vaso-occlusive crisis (VOC). This study investigates changes in leucocyte subsets and the relationship between cell adhesion molecule expression and disease manifestations in patients during steady state and acute VOC. We compared soluble E-selectin and P-selectin levels in 84 SCD patients, in steady state and during VOC to 84 healthy controls. Using immunophenotyping, we also compared lymphocyte subsets in these three groups...
September 30, 2016: Annals of Hematology
Halima Bello-Manga, Michael R DeBaun, Adetola A Kassim
Sickle cell disease (SCD) is the most common inherited hemoglobinopathy in the world, with the majority of cases in sub-Saharan Africa. Concomitant nutritional deficiencies, infections or exposure to environmental toxins exacerbate chronic anemia in children with SCD. The resulting relative anemia is associated with increased risk of strokes, poor cognitive function and impaired growth. It may also attenuate optimal response to hydroxyurea therapy, the only effective and practical treatment option for SCD in sub-Saharan Africa...
October 17, 2016: Expert Review of Hematology
Parin Kamseng, Satariya Trakulsrichai, Objoon Trachoo, Walaiporn Yimniam, Bhakbhoom Panthan, Paisan Jittorntam, Pimjai Niparuck, Pitsucha Sanguanwit, Winai Wananukul, Sumalee Jindadamrongwech
OBJECTIVE: To investigate the cause(s) of a Thai male proband presenting low oxygen saturation by pulse oximetry (SpO2) and severe anemia. METHODS: As Hb variant was suspected, Hb typing was determined by high-performance liquid chromatography and capillary electrophoresis, and subsequently Hb variant was identified by DNA sequencing. Complete blood counts were performed using automated blood cell counter and oxygen saturation was measured by pulse oximetry. RESULTS: Proband was compound heterozygous for Hb Louisville [β42(CD1)Phe→Leu] and Hb La Desirade [β129(H7)Ala→Val]...
September 27, 2016: Hematology (Amsterdam, Netherlands)
Hojjat Afradi, Yassaman Saghaei, Zohre A Kachoei, Vahid Babaei, Shahram Teimourian
OBJECTIVE: Thalassemia is a heterogeneous group of congenital hemoglobinopathies caused by mutations in the globin gene complex that result in an unbalanced globin synthesis. Unmatched globin chains bind to the cytosolic surface of red blood cell membrane where they cause oxidative damage that might in part be responsible for membrane weakness. The deformability of red blood cells and hypercoagulable state in thalassemic patients have been incriminated in leg ulcer formation, as this might cause ischemia to the skin and consequently friability and ulceration...
September 26, 2016: International Journal of Dermatology
Joy Adekanmbi, Trefor Higgins, Karina Rodriguez-Capote, Dylan Thomas, Jeffrey Winterstein, Tara Dixon, Jessica L Gifford, Richard Krause, Allison A Venner, Gwen Clarke, Mathew P Estey
BACKGROUND: HbA1c is used in the diagnosis and monitoring of diabetes mellitus (DM). Interference from hemoglobin variants is a well-described phenomenon, particularly with HPLC-based methods. While immunoassays may generate more reliable HbA1c results in the presence of some variants, these methods are susceptible to negative interference from high concentrations of HbF. We report a case where an accurate HbA1c result could not be obtained by any available method due to the presence of a compound hemoglobinopathy...
November 1, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
Christian Brix Folsted Andersen, Kristian Stødkilde, Kirstine Lindhart Sæderup, Anne Kuhlee, Stefan Raunser, Jonas Heilskov Graversen, Søren Kragh Moestrup
SIGNIFICANCE: Haptoglobin (Hp) is an abundant human plasma protein that tightly captures hemoglobin (Hb) during hemolysis. The Hb-Hp complex formation reduces the oxidative properties of heme/Hb and promotes recognition by the macrophage receptor CD163. This leads to Hb-Hp breakdown and heme catabolism by heme oxygenase. Gene duplications of a part of or the entire Hp gene in the primate evolution has led to variant Hp gene products that collectively may be designated 'the haptoglobins' as they all bind Hb...
September 21, 2016: Antioxidants & Redox Signaling
Rhoda Elison Hirsch, Nathawut Sibmooh, Suthat Fucharoen, Joel M Friedman
Oxidative stress and the generation of free radicals are fundamental in initiating pathophysiological mechanisms leading to an inflammatory cascade resulting in high rates of morbidity and death from many inherited point mutation derived hemoglobinopathies. Hemoglobin (Hb)E is the most common point mutation worldwide. The β<sup>E</sup>-globin gene is found in greatest frequency in Southeast Asia, including Thailand, Malaysia, Indonesia, Vietnam, Cambodia, and Laos. With the wave of worldwide migration, it is entering the gene pool of diverse populations with greater consequences than expected...
September 21, 2016: Antioxidants & Redox Signaling
Widad Yazaji, Wafa Habbal, Fawza Monem
BACKGROUND AND OBJECTIVES: Blood transfusion is a lifesaving therapy for patients with hemoglobinopathies. However, the need of frequent transfusion carries the risk of transmitting hepatitis B and C infections which are intermediately prevalent in Syria. Despite screening blood donations with sensitive methods, the risk of transmission is still present when infectious blood is donated within the window period. This study aimed to investigate the incidence of HBV and HCV seropositivity, and its association with multiple transfusions among Syrian hemoglobinopathies patients...
2016: Mediterranean Journal of Hematology and Infectious Diseases
Farhan Farooqui, Mark A Chaney, Chryssoula Staikou, Sheela Pai Cole
No abstract text is available yet for this article.
October 2016: Journal of Cardiothoracic and Vascular Anesthesia
R Douglas Wilson, Isabelle De Bie, Christine M Armour, Richard N Brown, Carla Campagnolo, June C Carroll, Nan Okun, Tanya Nelson, Rhonda Zwingerman, Francois Audibert, Jo-Ann Brock, Richard N Brown, Carla Campagnolo, June C Carroll, Isabelle De Bie, Jo-Ann Johnson, Nan Okun, Melanie Pastruck, Karine Vallée-Pouliot, R Douglas Wilson, Rhonda Zwingerman, Christine Armour, David Chitayat, Isabelle De Bie, Sara Fernandez, Raymond Kim, Josee Lavoie, Norma Leonard, Tanya Nelson, Sherry Taylor, Margot Van Allen, Clara Van Karnebeek
OBJECTIVE: This guideline was written to update Canadian maternity care and reproductive healthcare providers on pre- and postconceptional reproductive carrier screening for women or couples who may be at risk of being carriers for autosomal recessive (AR), autosomal dominant (AD), or X-linked (XL) conditions, with risk of transmission to the fetus. Four previous SOGC- Canadian College of Medical Geneticists (CCMG) guidelines are updated and merged into the current document. INTENDED USERS: All maternity care (most responsible health provider [MRHP]) and paediatric providers; maternity nursing; nurse practitioner; provincial maternity care administrator; medical student; and postgraduate resident year 1-7...
August 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
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