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inheritance of blood groups

Marta Crous-Bou, Laura B Harrington, Christopher Kabrhel
Venous thromboembolism (VTE) includes deep vein thrombosis and pulmonary embolism, and a combination of environmental and genetic risk factors contributes to VTE risk. Within environmental risk factors, some are provoking (e.g., cancer, surgery, trauma or fracture, immobilization, pregnancy and the postpartum period, long-distance travel, hospitalization, catheterization, and acute infection) and others are nonprovoking (e.g., age, sex, race/ethnicity, body mass index and obesity, oral contraceptive or hormone therapy use, corticosteroid use, statin use, diet, physical activity, sedentary time, and air pollution)...
October 20, 2016: Seminars in Thrombosis and Hemostasis
Wai Cheng Foong, Jacqueline J Ho, C Khai Loh, Vip Viprakasit
BACKGROUND: Non-transfusion dependent beta thalassaemia is a subset of inherited haemoglobin disorders characterised by reduced production of the beta globin chain of the haemoglobin molecule leading to anaemia of varying severity. Although blood transfusion is not a necessity for survival, it is required when episodes of chronic anaemia occur. This chronic anaemia can impair growth and affect quality of life. People with non-transfusion dependent beta thalassaemia suffer from iron overload due to their body's increased capability of absorbing iron from food sources...
October 18, 2016: Cochrane Database of Systematic Reviews
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
Kaja H Skjærven, Lars Martin Jakt, John Arne Dahl, Marit Espe, Håvard Aanes, Kristin Hamre, Jorge M O Fernandes
World Health Organization is concerned for parental vitamin deficiency and its effect on offspring health. This study examines the effect of a marginally dietary-induced parental one carbon (1-C) micronutrient deficiency on embryonic gene expression using zebrafish. Metabolic profiling revealed a reduced 1-C cycle efficiency in F0 generation. Parental deficiency reduced the fecundity and a total of 364 genes were differentially expressed in the F1 embryos. The upregulated genes (53%) in the deficient group were enriched in biological processes such as immune response and blood coagulation...
October 12, 2016: Scientific Reports
Katharina Bell, Anna Holz, Kirstin Ludwig, Norbert Pfeiffer, Franz H Grus
BACKGROUND: Many studies analyzing neurodegenerative diseases demonstrate altered frequencies of regulatory T cells (Tregs). Till date, there is hardly any information concerning Tregs in glaucoma. To gather first results concerning Treg levels in glaucoma patients, we aimed to investigate whether the number of CD4(+)CD25(+)T cells vary in the patients suffering from primary open-angle glaucoma (POAG) and healthy controls. METHODS: Heparinized blood samples were collected from 16 healthy individuals and 16 POAG patients...
October 10, 2016: Current Eye Research
E N Barker, L J Dawson, J H Rose, S Van Meervenne, O Frykman, C Rohdin, A Leijon, K E Soerensen, J Järnegren, G C Johnson, D P O'Brien, N Granger
BACKGROUND: Neurodegenerative diseases are a heterogeneous group of disorders characterized by loss of neurons and are commonly associated with a genetic mutation. HYPOTHESIS/OBJECTIVES: To characterize the clinical and histopathological features of a novel degenerative neurological disease affecting the brain of young adult Nova Scotia Duck Tolling Retrievers (NSDTRs). ANIMALS: Nine, young adult, related NSDTRs were evaluated for neurological dysfunction and rapid eye movement sleep behavior disorder...
September 2016: Journal of Veterinary Internal Medicine
Gi Su Lee, Joon Cheol Park, Jeong Ho Rhee, Jong In Kim
OBJECTIVE: The goal of this study was to evaluate the etiologies and clinical outcomes of Korean recurrent pregnancy loss (RPL) patients. And also, we investigated the differences between primary and secondary RPL patients, between two and three or more pregnancy losses. METHODS: One hundred seventy eight women diagnosed as RPL were enrolled. We performed chromosomal analysis, thyroid stimulating hormone, prolactin, blood glucose, plasminogen activator inhibitor-1, natural killer cell proportion, anticardiolipin antibodies, antiphospholipid antibodies, lupus anticoagulant, anti-β2glycoprotein-1 antibodies, antinuclear antibody, protein C, protein S, antithrombin III, homocysteine, MTFHR gene, factor V Leiden mutation, and hysterosalphingography/hysteroscopic evaluation...
September 2016: Obstetrics & Gynecology Science
Arun V Everest-Dass, Daniel Kolarich, Dana Pascovici, Nicolle H Packer
Human blood group polymorphisms are known to be determined by the expression of A, B or H antigens and the Lewis antigens. Protection against microbial infections has been associated with inheritance of polymorphisms in genes encoding and regulating the expression of ABH and Lewis antigens in bodily secretions and epithelial tissue surfaces, subsequently resulting in the presentation of different glycosylated terminal antigens on the cell surface. We investigated the role of blood group antigens in diversifying the glycosylation of buccal epithelial cells (BEC) that line the oral cavity...
September 17, 2016: Glycoconjugate Journal
V Salle, J Schmidt, A Smail, C Mazière, M A Conte, A Brulé, J C Mazière, E Cadet, Y E Herpe, P Duhaut
Acquired and inherited thrombophilia have both been reported to be associated with an increased risk of obstetric complications in early or later stages of pregnancy. Annexin A2 (ANXA2) is strongly expressed in vascular and placental tissues and plays a crucial role in fibrinolysis. The aim of the present study was to evaluate the prevalence of antibodies directed against ANXA2 in patients with recurrent miscarriage or obstetric complications. Anti-ANXA2 antibodies (aANXA2) were detected by ELISA in the sera from 46 women with obstetric morbidity, mainly recurrent miscarriage...
August 30, 2016: Journal of Reproductive Immunology
Paolo Prandoni
Once anticoagulation is stopped, the risk of recurrent venous thromboembolism (VTE) over years after a first episode is consistently around 30 %. This risk is higher in patients with unprovoked than in those with (transient) provoked VTE, and among the latter in patients with medical than in those with surgical risk factors. Baseline parameters that have been found to be related to the risk of recurrent VTE are the proximal location of deep vein thrombosis, obesity, old age, male sex and non-0 blood group, whereas the role of inherited thrombophilia is controversial...
September 13, 2016: Advances in Experimental Medicine and Biology
Katayoun Samimi-Rad, Ramin Rahimnia, Mahdi Sadeghi, Seyed Amir Malekpour, Mona Marzban, Maryam Keshvari, Seyed Jalal Kiani, Seyed-Moayed Alavian
The high rate of hepatitis C virus (HCV) infection among transfusion related risk groups such as patients with inherited bleeding disorders highlighting the investigation on prevalent subtypes and their epidemic history among this group. In this study, 166 new HCV NS5B sequences isolated from patients with inherited bleeding disorders together with 29 sequences related to hemophiliacs obtained from a previous study on diversity of HCV in Iran were analyzed. The most prevalent subtype was 1a (65%), followed by 3a (18...
2016: PloS One
D Rose Ewald, Susan C J Sumner
Associations between blood type and disease have been studied since the early 1900s when researchers determined that antibodies and antigens are inherited. In the 1950s, the chemical identification of the carbohydrate structure of surface antigens led to the understanding of biosynthetic pathways. The blood type is defined by oligosaccharide structures, which are specific to the antigens, thus, blood group antigens are secondary gene products, while the primary gene products are various glycosyltransferase enzymes that attach the sugar molecules to the oligosaccharide chain...
November 2016: Wiley Interdisciplinary Reviews. Systems Biology and Medicine
Prasanthi Namburi, Rinki Ratnapriya, Samer Khateb, Csilla H Lazar, Yael Kinarty, Alexey Obolensky, Inbar Erdinest, Devorah Marks-Ohana, Eran Pras, Tamar Ben-Yosef, Hadas Newman, Menachem Gross, Anand Swaroop, Eyal Banin, Dror Sharon
Inherited retinal diseases (IRDs) are a diverse group of genetically and clinically heterogeneous retinal abnormalities. The present study was designed to identify genetic defects in individuals with an uncommon combination of autosomal recessive progressive cone-rod degeneration accompanied by sensorineural hearing loss (arCRD-SNHL). Homozygosity mapping followed by whole-exome sequencing (WES) and founder mutation screening revealed two truncating rare variants (c.893-1G>A and c.534delT) in CEP78, which encodes centrosomal protein 78, in six individuals of Jewish ancestry with CRD and SNHL...
September 1, 2016: American Journal of Human Genetics
Margarita Olympiou, Irene Sargiannidou, Kyriaki Markoullis, Christos Karaiskos, Alexia Kagiava, Styliana Kyriakoudi, Charles K Abrams, Kleopas A Kleopa
X-linked Charcot-Marie-Tooth disease (CMT1X) is a common form of inherited neuropathy resulting from different mutations affecting the gap junction (GJ) protein connexin32 (Cx32). A subset of CMT1X patients may additionally present with acute fulminant CNS dysfunction, typically triggered by conditions of systemic inflammation and metabolic stress. To clarify the underlying mechanisms of CNS phenotypes in CMT1X we studied a mouse model of systemic inflammation induced by lipopolysaccharide (LPS) injection to compare wild type (WT), connexin32 (Cx32) knockout (KO), and KO T55I mice expressing the T55I Cx32 mutation associated with CNS phenotypes...
2016: Acta Neuropathologica Communications
Saeed Dastgiri, Roya Dolatkhah
BACKGROUND: Sickle cell disease is an inherited autosomal recessive blood condition and is one of the most prevalent genetic blood diseases worldwide. Acute chest syndrome is a frequent complication of sickle cell disease, as well as a major cause of morbidity and the greatest single cause of mortality in children with sickle cell disease. Standard treatment may include intravenous hydration, oxygen as treatment for hypoxia, antibiotics to treat the infectious cause and blood transfusions may be given...
2016: Cochrane Database of Systematic Reviews
C J Westmark, D K Sokol, B Maloney, D K Lahiri
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and is associated with up to 5% of autism cases. Several promising drugs are in preclinical testing for FXS; however, bench-to-bedside plans for the clinic are severely limited due to lack of validated biomarkers and outcome measures. Published work from our laboratories has demonstrated altered levels of amyloid-beta (Aβ) precursor protein (APP) and its metabolites in FXS and idiopathic autism. Westmark and colleagues have focused on β-secretase (amyloidogenic) processing and the accumulation of Aβ peptides in adult FXS models, whereas Lahiri and Sokol have studied α-secretase (non-amyloidogenic or anabolic) processing and altered levels of sAPPα and Aβ in pediatric autism and FXS...
October 2016: Molecular Psychiatry
Eva M Matzhold, Camilla Drexler, Thomas Wagner
BACKGROUND: The presence of ABO subgroup alleles and unusual O alleles often is associated with discrepant serologic findings in ABO blood group typing. In the ABO gene of a Caucasian female and her daughters who had aberrant ABO phenotypes, a novel ABO O allele characterized by a large deletion that included two exons was identified. METHODS: ABO phenotypes were determined by standard agglutination tests and adsorption-elution studies. Allele-specific sequencing analyses of the ABO gene as well as messenger RNA transcripts were carried out...
August 21, 2016: Transfusion
Mallika Bokka Sri Satya Naga, Shreya Gour, Nalini Nallagutta, Kranti Kiran Reddy Ealla, Surekha Velidandla, Sangameshwar Manikya
INTRODUCTION: Sickle Cell Anaemia (SCA) is a commonly inherited blood disorder preceded by episodes of pain, chronic haemolytic anaemia and severe infections. The underlying phenomenon which causes this disease is the point mutation in the haemoglobin beta gene (Hbβ) found on chromosome 11 p. Increased oxidative stress leads to DNA damage. DNA damage occurring in such conditions can be studied by the buccal micronucleus cytome assay, which is a minimally invasive method for studying chromosomal instability, cell death and regenerative potential of human buccal tissue...
June 2016: Journal of Clinical and Diagnostic Research: JCDR
Rhiannon McBean, Yew-Wah Liew, Brett Wilson, Pawinee Kupatawintu, Morakot Emthip, Catherine Hyland, Robert Flower
The At(a) blood group antigen (now AUG2 in the Augustine system) is a high-frequency antigen with negative phenotype At(a-) found only in individuals of African ancestry. In a twin pregnancy, the fifth pregnancy in a woman of African origin, serological investigations confirmed that the mother was At(a-) and anti-At(a) was detected. DNA samples were exome sequenced and alignment was performed to allow variant calling. It was confirmed that the single nucleotide polymorphism, rs45458701, within the SLC29A1 gene encoding the ENT1 protein, recently reported to be a basis of the At(a-) phenotype was also the basis of the phenotype in this family...
January 2016: Journal of Pathology. Clinical Research
Daniel A Lichtenstein, Andrew W Crispin, Anoop K Sendamarai, Dean R Campagna, Klaus Schmitz-Abe, Cristovao M Sousa, Martin D Kafina, Paul J Schmidt, Charlotte M Niemeyer, John Porter, Alison May, Mrinal M Patnaik, Matthew M Heeney, Alec Kimmelman, Sylvia S Bottomley, Barry H Paw, Kyriacos Markianos, Mark D Fleming
The congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited blood disorders characterized by pathological mitochondrial iron deposition in erythroid precursors. Each known cause has been attributed to a mutation in a protein associated with heme biosynthesis, iron-sulfur cluster biogenesis, mitochondrial translation, or a component of the mitochondrial respiratory chain. Here, we describe a recurring mutation, c.276_278del, p.F93del, in NDUFB11, a mitochondrial respiratory complex I-associated protein encoded on the X chromosome, in 5 males with a variably syndromic, normocytic CSA...
October 13, 2016: Blood
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