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inheritance of blood groups

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https://www.readbyqxmd.com/read/29343036/-analysis-of-genotype-and-hematological-phenotype-of-14-patients-with-coinheritance-hk%C3%AE-%C3%AE-and-south-east-deletion-thalassemia
#1
L Y Zhong, F Wang, P S Chen, Y J Xie, J Y Tan, M Liu, B Huang, W B Lin
Objective: To analyze the genotype-phenotype correlations among those thalassemia samples with the presence of -α(3.7,) --(SEA) and normal α(2) alleles on their α-globin gene clusters. Methods: Fourteen patients(including 1fetus, 4 males and 9 females, aged 0- 56 years old)who were suspected diagnosed by hematologic analysis and genetic testing among 16 080 participants in our laboratory since from August 2011 to August 2016, were enrolled. Complete blood cell count was performed on XE4000i automatic hemocyte analyzer...
January 9, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29334169/impact-of-baseline-clinical-and-laboratory-features-on-the-risk-of-thrombosis-in-children-with-acute-lymphoblastic-leukemia-a-prospective-evaluation
#2
Uma H Athale, T Mizrahi, C Laverdière, T Nayiager, Y-L Delva, G Foster, L Thabane, M David, J-M Leclerc, A K C Chan
BACKGROUND: Children with acute lymphoblastic leukemia (ALL) have increased risk of thromboembolism (TE). However, the predictors of ALL-associated TE are as yet uncertain. OBJECTIVE: This exploratory, prospective cohort study evaluated the effects of clinical (age, gender, ALL risk group) and laboratory variables (hematological parameters, ABO blood group, inherited and acquired prothrombotic defects [PDs]) at diagnosis on the development of symptomatic TE (sTE) in children (aged 1 to ≤18) treated on the Dana-Farber Cancer Institute ALL 05-001 study...
January 15, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29306253/molecular-analysis-and-prevalence-of-huntington-disease-in-northwestern-iran
#3
Mahmoud Shekari Khaniani, Parisa Aob, Mohammadreza Ranjouri, Sima Mansoori Derakhsan
Background/aim: Huntington disease (HD) is a progressive adult-onset neurodegenerative disorder presenting an autosomal dominant inheritance. Since there is no information on the prevalence of HD in northwestern Iran, the aim of the present study was to determine the prevalence of HD and the number of CAG trinucleotide repeats in the population of northwestern Iran.Materials and methods: Genomic DNA was extracted from whole blood by the salting-out method. DNA samples were analyzed to determine the number of CAG trinucleotide repeats of the HD gene...
December 19, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/29296892/allogeneic-bone-marrow-transplant-in-the-absence-of-cytoreductive-conditioning-rescues-mice-with-%C3%AE-thalassemia-major
#4
Yongliang Huo, Jonathan R Lockhart, Shanrun Liu, Suean Fontenard, Mike Berlett, Thomas M Ryan
β-thalassemia is a group of inherited blood disorders that result in defects in β-globin chain production. Cooley anemia (CA), or β-thalassemia major, is the most severe form of the disease and occurs when an individual has mutations in both copies of the adult β-globin gene. Patients with CA fail to make adult hemoglobin, exhibit ineffective erythropoiesis, experience severe anemia, and are transfusion dependent for life. Currently, allogeneic bone marrow transplantation (BMT) is the only cure; however, few patients have suitable donors for this procedure, which has significant morbidity and mortality...
November 28, 2017: Blood Advances
https://www.readbyqxmd.com/read/29296844/potential-impact-of-complement-regulator-deficiencies-on-hemolytic-reactions-due-to-minor-abo-mismatched-transfusions
#5
Priyanka Pandey, Waseem Q Anani, Jerome L Gottschall, Gregory A Denomme
Minor ABO-mismatched transfusions are a common occurrence, although infrequent transfusion reactions occur. We sought to investigate the regulation of complement C3 activation induced by anti-A. In vitro complement C3 activation was observed with 10 of 30 group O samples and correlated with immunoglobulin M (IgM) anti-A titers. We developed an in vitro paroxysmal nocturnal hemoglobinuria (PNH) model of hemolysis in which group A1 red blood cells (RBCs) were chemically treated with 2-aminoethylisothiouronium (AET) to alter regulators of complement C3 activation...
October 24, 2017: Blood Advances
https://www.readbyqxmd.com/read/29238183/gene-and-mirna-expression-profiles-in-pbmcs-from-patients-with-severe-and-mild-emphysema-and-pizz-alpha1-antitrypsin-deficiency
#6
Cristina Esquinas, Sabina Janciauskiene, Ricardo Gonzalo, Gemma Mas de Xaxars, Beata Olejnicka, Irene Belmonte, Miriam Barrecheguren, Esther Rodriguez, Alexa Nuñez, Francisco Rodriguez-Frias, Marc Miravitlles
Introduction: COPD has complex etiologies involving both genetic and environmental determinants. Among genetic determinants, the most recognized is a severe PiZZ (Glu342Lys) inherited alpha1-antitrypsin deficiency (AATD). Nonetheless, AATD patients present a heterogeneous clinical evolution, which has not been completely explained by sociodemographic or clinical factors. Here we performed the gene expression profiling of blood cells collected from mild and severe COPD patients with PiZZ AATD...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/29188623/-pedigree-investigation-and-genetic-analysis-of-a-case-with-vel-heterozygous-deletion-mutation
#7
Taixiang Liu, Yanchun Liu, Ling Ma, Fang Zhao, Ruoyang Zhang, Lili Shi
OBJECTIVE: To analyze an individual with SMIM1 c.64_80 heterozygous deletional mutation and his family members. METHODS: Based on the molecular basis of Vel negative blood type, PCR primers specific for SMIM1 wild-type allele and c.64_80del allele were designed. PCR-sequence specific primer (PCR-SSP) and Sanger sequencing were employed to determine the genotype of all subjects. Inheritance of the Vel blood group system was investigated by pedigree analysis. RESULTS: PCR-SSP and DNA sequencing demonstrated that the proband was heterozygous for the SMIM1 c...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29181452/prevalences-of-inherited-red-blood-cell-disorders-in-pregnant-women-of-different-ethnicities-living-along-the-thailand-myanmar-border
#8
Germana Bancone, Mary Ellen Gilder, Nongnud Chowwiwat, Gornpan Gornsawun, Elsi Win, Win Win Cho, Eh Moo, Aung Myat Min, Prakaykaew Charunwatthana, Verena I Carrara, Nicholas J White, Francois Nosten, Rose McGready
Background: Inherited red blood cell disorders are prevalent in populations living in malaria endemic areas; G6PD deficiency is associated with oxidant-induced haemolysis and abnormal haemoglobin variants may cause chronic anaemia. In pregnant women, microcytic anaemia caused by haemoglobinopathies mimics iron deficiency, complicating diagnosis and treatment. Anaemia during pregnancy is associated with morbidity and mortality. The aim of this study was to characterise the prevalence of G6PD deficiency and haemoglobinopathies  among the pregnant population living along the Thailand-Myanmar border...
2017: Wellcome Open Research
https://www.readbyqxmd.com/read/29166365/cdc-grand-rounds-improving-the-lives-of-persons-with-sickle-cell-disease
#9
Mary Hulihan, Kathryn L Hassell, Jean L Raphael, Kim Smith-Whitley, Phoebe Thorpe
Approximately 100,000 Americans have sickle cell disease (SCD), a group of recessively inherited red blood cell disorders characterized by abnormal hemoglobin, called hemoglobin S or sickle hemoglobin, in the red blood cells. Persons with hemoglobin SS or hemoglobin Sß0 thalassemia, also known as sickle cell anemia (SCA), have the most severe form of SCD. Hemoglobin SC disease and hemoglobin Sß+ thalassemia are other common forms of SCD. Red blood cells that contain sickle hemoglobin are inflexible and can stick to vessel walls, causing a blockage that slows or stops blood flow...
November 24, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/29163366/clinical-genetic-and-protein-structural-aspects-of-familial-dysalbuminemic-hyperthyroxinemia-and-hypertriiodothyroninemia
#10
REVIEW
Ulrich Kragh-Hansen, Monica Galliano, Lorenzo Minchiotti
Familial dysalbuminemic hyperthyroxinemia (FDH-T4) and hypertriiodothyroninemia (FDH-T3) are dominantly inherited syndromes characterized by a high concentration of thyroid hormone in the blood stream. The syndromes do not cause disease, because the concentration of free hormone is normal, but affected individuals are at risk of erroneous treatment. FDH-T4 is the most common cause of euthyroid hyperthyroxinemia in Caucasian populations in which its prevalence is about 1 in 10,000 individuals, but the prevalence can be much higher in some ethnic groups...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29161780/assessment-of-relationship-of-abo-blood-groups-among-tobacco-induced-oral-cancer-patients-of-kanpur-population-uttar-pradesh
#11
Gayathri Ramesh, Anuradha Katiyar, Amrita Raj, Amit Kumar, Ramesh Nagarajappa, Amit Pandey
Background: The possibility of association between ABO blood groups and malignancy was first discussed by Anderson DE & Haas C. The association between blood group and oral cancer is least explored and hence this study was undertaken to evaluate relationship of ABO blood groups with an increased risk for oral cancer. Materials and method: The present study was conducted at various cancer hospitals in Kanpur. The study samples comprised 100 oral cancer patients and 50 controls with tobacco chewing habit...
November 2017: Journal of Experimental Therapeutics & Oncology
https://www.readbyqxmd.com/read/29143464/mean-platelet-diameter-measurements-to-classify-inherited-thrombocytopenias
#12
K Fixter, D J Rabbolini, B Valecha, M-C Morel-Kopp, S Gabrielli, Q Chen, W S Stevenson, C M Ward
INTRODUCTION: Mean platelet volume (MPV) assists the differential diagnosis of inherited thrombocytopenia (IT) but lacks standardisation and varies between automated analysers. Classification of IT based on mean platelet diameter (MPD) has been proposed by an international collaborative study but has not been validated. METHODS: To assess the applicability of MPD to classify forms of IT, digital images of blood films from patients with established genetic causes for IT were generated, and the MPD measured (ZEISS Axio-scanner and Image J software) by a blinded reviewer...
November 16, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29132319/association-of-nos3-gene-polymorphisms-with-essential-hypertension-in-sudanese-patients-a-case-control-study
#13
Sahar Gamil, Jeanette Erdmann, Ihab B Abdalrahman, Abdelrahim O Mohamed
BACKGROUND: Essential hypertension (EH) is influenced by various environmental and genetic factors. Nitric oxide is important for the functional integrity of the vascular endothelium and is produced in endothelial cells by the enzyme endothelial nitric oxide synthase (eNOS). EH has a strong genetic component, and the NOS3 gene, which encodes eNOS, represents an interesting candidate for contribution to the phenotype. The most clinically relevant polymorphisms in the NOS3 gene are rs1799983 in exon 7 (encoding Glu298Asp), a variable number tandem repeat (VNTR) in intron 4, and rs2070744 (T-786C) in the promoter region...
November 13, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29126301/coagulation-testing-in-the-core-laboratory
#14
William E Winter, Sherri D Flax, Neil S Harris
Primary hemostasis begins with endothelial injury. VWF, produced by endothelial cells, binds to platelets and links them to subendothelial collagen. Platelet-derived ADP and thromboxane activate non-adhered platelets via their GPIIb/IIIa receptors, allowing these platelets to participate in platelet aggregation. Secondary hemostasis is initiated with the binding of factor VII to extravascular tissue factor (TF). Factors II, VII, IX and X are vitamin K-dependent factors. The role of vitamin K is to assist in the addition of gamma carboxylate groups to glutamic acids in the "GLA" domains of these factors...
November 8, 2017: Laboratory Medicine
https://www.readbyqxmd.com/read/29124535/peculiarities-of-the-development-of-the-myocardial-infarction-in-isiah-rats
#15
S E Naumenko, T V Latysheva
We studied peculiarities of the development of myocardial infarction in rats with inherited stress-induced arterial hypertension (ISIAH rats). The control group consisted of Wistar rats. Occlusion of the left coronary artery (30 min) followed by reperfusion (120 min) was performed. The infarct size was determined relative to the risk zone by staining with 1% triphenyltetrazolium. BP, blood filling, and blood flow in the caudal vessels were measured. The infarct size was 31.5±3.0% of the risk zone in Wistar rats and 47...
November 9, 2017: Bulletin of Experimental Biology and Medicine
https://www.readbyqxmd.com/read/29110304/beta-blockers-for-preventing-aortic-dissection-in-marfan-syndrome
#16
REVIEW
Hyun-Kyoung Koo, Kendra Ak Lawrence, Vijaya M Musini
BACKGROUND: Marfan syndrome is a hereditary disorder affecting the connective tissue and is caused by a mutation of the fibrillin-1 (FBN1) gene. It affects multiple systems of the body, most notably the cardiovascular, ocular, skeletal, dural and pulmonary systems. Aortic root dilatation is the most frequent cardiovascular manifestation and its complications, including aortic regurgitation, dissection and rupture are the main cause of morbidity and mortality. OBJECTIVES: To assess the long-term efficacy and safety of beta-blocker therapy as compared to placebo, no treatment or surveillance only in people with Marfan syndrome...
November 7, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29104077/assessment-of-atp8b1-deficiency-in-pediatric-patients-with-cholestasis-using-peripheral-blood-monocyte-derived-macrophages
#17
Hisamitsu Hayashi, Sotaro Naoi, Takao Togawa, Yu Hirose, Hiroki Kondou, Yasuhiro Hasegawa, Daiki Abukawa, Mika Sasaki, Koji Muroya, Satoshi Watanabe, Satoshi Nakano, Kei Minowa, Ayano Inui, Akinari Fukuda, Mureo Kasahara, Hironori Nagasaka, Kazuhiko Bessho, Mitsuyoshi Suzuki, Hiroyuki Kusuhara
Progressive familial intrahepatic cholestasis type 1 (PFIC1), a rare inherited recessive disease resulting from a genetic deficiency in ATP8B1, progresses to liver failure. Because of the difficulty of discriminating PFIC1 from other subtypes of PFIC based on its clinical and histological features and genome sequencing, an alternative method for diagnosing PFIC1 is desirable. Herein, we analyzed human peripheral blood monocyte-derived macrophages (HMDM) and found predominant expression of ATP8B1 in interleukin-10 (IL-10)-induced M2c, a subset of alternatively activated macrophages...
October 7, 2017: EBioMedicine
https://www.readbyqxmd.com/read/29090586/diagnosis-and-treatment-of-myh9-rd-in-an-australasian-cohort-with-thrombocytopenia
#18
David J Rabbolini, Yenna Chun, Maya Latimer, Shinji Kunishima, Kathleen Fixter, Bhavia Valecha, Peter Tan, Lee Ping Chew, Benjamin T Kile, Rachel Burt, Kottayam Radhakrishnan, Robert Bird, Paul Ockelford, Sara Gabrielli, Qiang Chen, William S Stevenson, Christopher M Ward, Marie-Christine Morel-Kopp
MYH9-related disorders (MYH9-RDs) caused by mutation of the MYH9 gene which encodes non-muscle myosin heavy-chain-IIA (NMMHC-IIA), an important motor protein in hemopoietic cells, are the most commonly encountered cause of inherited macrothrombocytopenia. Despite distinguishing features including an autosomal dominant mode of inheritance, giant platelets on the peripheral blood film accompanied by leucocytes with cytoplasmic inclusion bodies (döhle-like bodies), these disorders remain generally under-recognized and often misdiagnosed as immune thrombocytopenia (ITP)...
November 1, 2017: Platelets
https://www.readbyqxmd.com/read/29071685/flow-cytometry-assays-in-primary-immunodeficiency-diseases
#19
Maurice R G O'Gorman
Inborn errors of immunity are the cause of the primary immunodeficiency diseases, an extremely diverse group of genetic defects that are inherited in Mendelian fashion and result in the impairment of development and/or function of key components of the immune system. Since the last publication of this chapter in 2011, there have been approximately 100 new primary immunodeficiency diseases officially classified by the "Expert Committee for Primary Immunodeficiency" who met in 2015 and the numbers will continue to rise with the continued evolution and widespread adoption of genomic technologies...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29068574/total-antioxidant-capacity-in-mediterranean-%C3%AE-thalassemic-patients
#20
Ioannis Tsamesidis, Claudio Fozza, Eleni Vagdatli, Anastasia Kalpaka, Carla Cirotto, Maria Carmina Pau, Antonella Panataleo, Francesco Turrini, Elisavet Grigoriou, Eugenia Lymperaki
BACKGROUND: Beta thalassemia major (BT) is an inherited blood disorder caused by reduced or absent synthesis of the hemoglobin beta chains, associated with profound anemia, jaundice, splenomegaly, expanded bone marrow volume, siderosis and cardiomegaly. Because of repeated blood transfusions, BT patients are subjected to peroxidative tissue injury due to secondary iron overload. OBJECTIVES: The aim of the study was to analyze: 1) the total antioxidant capacity (TAC) value in BT patients (study group) and their healthy controls (control group) from Greece (Central Macedonia) and Italy (Sardinia); correlations between 2) the TAC and ferritin levels of BT patients, and 3) the TAC and ferritin values in BT patients with different chelation therapies...
August 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
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