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https://www.readbyqxmd.com/read/28532286/hb-bakersfield-hba1-c-151_152insggagcc-the-insertion-of-arg-his-between-codons-49-and-50-of-the-%C3%AE-1-globin-chain-leads-to-increased-oxygen-affinity
#1
Saskia Brunner-Agten, Thomas von Känel, Benno Röthlisberger, Charles Broquet, Andreas R Huber
We describe an insertion variant on the α1-globin gene (HBA1) identified in a 49-year-old woman of Jurassian ancestry presenting with macrocytosis and erythrocytosis. The variant resulted in a peak of 15.5% of the total hemoglobin (Hb) on high performance liquid chromatography (HPLC). Stability and oxygen affinity testing revealed that the variant was stable and had an increased oxygen affinity. Molecular genetic testing detected the heterozygous sequence variant Hb Bakersfield [α50(CE8)His→0; Arg-Ser-His- inserted between 49(CE7) and 51(CE9) of α1; HBA1: c...
January 2017: Hemoglobin
https://www.readbyqxmd.com/read/28530652/cd34-cells-from-dental-pulp-stem-cells-with-a-zfn-mediated-and-homology-driven-repair-mediated-locus-specific-knock-in-of-an-artificial-%C3%AE-globin-gene
#2
S Chattong, O Ruangwattanasuk, W Yindeedej, A Setpakdee, K Manotham
In humans, mutations in the β-globin gene (HBB) have two important clinical manifestations: β-thalassemia and sickle cell disease. The progress in genome editing and stem cell research may be relevant to the treatment of β-globin-related diseases. In this work, we employed zinc finger nuclease (ZFN)-mediated gene integration of synthetic β-globin cDNA into HBB loci, thus correcting almost all β-globin mutations. The integration was achieved in both HEK 293 cells and isolated dental pulp stem cell (DPSCs)...
May 22, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28528476/erratum-to-s-3-aminobenzanthron-2-yl-cysteine-in-the-globin-of-rats-as-a-novel-type-of-adduct-and-possible-biomarker-of-exposure-to-3-nitrobenzanthrone-a-potent-environmental-carcinogen
#3
Igor Linhart, Iveta Hanzlíková, Jaroslav Mráz, Šárka Dušková
No abstract text is available yet for this article.
May 20, 2017: Archives of Toxicology
https://www.readbyqxmd.com/read/28523047/alpha-thalassemia-deletions-found-in-suspected-cases-of-beta-thalassemia-major-in-pakistani-population
#4
Saba Shahid, Muhammad Nadeem, Danish Zahid, Jawad Hassan, Saqib Ansari, Tahir Shamsi
BACKGROUND & OBJECTIVE: Alpha (α) thalassemia is a hereditary disorder and is caused by deletions or mutations in globin genes. It is present in two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome and hemoglobin H (HbH) disease. It is highly prevalent in South-East Asia or Mediterranean countries. The most common deletion reported in alpha thalassemia in Pakistani population was -α(3.7) with a frequency of 8.3%, and the rare forms were -α(4.2) (0.2%) and ααα(anti3...
March 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28520978/ldb1-mediated-enhancer-looping-can-be-established-independent-of-mediator-and-cohesin
#5
Ivan Krivega, Ann Dean
Mechanistic studies in erythroid cells indicate that LDB1, as part of a GATA1/TAL1/LMO2 complex, brings erythroid-expressed genes into proximity with enhancers for transcription activation. The role of co-activators in establishing this long-range interaction is poorly understood. Here we tested the contributions of the RNA Pol II pre-initiation complex (PIC), mediator and cohesin to establishment of locus control region (LCR)/β-globin proximity. CRISPR/Cas9 editing of the β-globin promoter to eliminate the RNA Pol II PIC by deleting the TATA-box resulted in loss of transcription, but enhancer-promoter interaction was unaffected...
May 18, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28511389/variability-of-iron-load-in-patients-of-sickle-cell-anaemia-hbss-a-study-from-eastern-india
#6
Pranati Mohanty, Rabindra Kumar Jena, Sudha Sethy
INTRODUCTION: Sickle Cell Anaemia (SCA) is one of the commonest haemoglobinopathies due to a point mutation (A→T) of the β-globin gene. Out of five haplotypes, the Arab-Indian haplotype present in India is one of the least severe phenotype and least studied also. It is characterized by lifelong haemolytic anaemia requiring red cell transfusion leading to iron overload. In contrast, there is very high incidence of deficiency of iron, folic acid and vitamin B12. AIM: Our objective was to access the Iron status of SCA patients and to find its correlation with various parameters like red cell transfusion, haemolysis and serum hepcidin...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28506685/simultaneous-genotyping-of-%C3%AE-thalassemia-deletional-and-nondeletional-mutations-by-real-time-pcr-based-multicolor-melting-curve-analysis
#7
Qiuying Huang, Xudong Wang, Ning Tang, Tizhen Yan, Ping Chen, Qingge Li
α-Thalassemia, which is caused by defective synthesis of the hemoglobin α-globin chains, is the most commonly inherited recessive hemoglobin abnormality. Genetic detection of a defective α-globin gene is challenging because of a variety of large deletions of the α-globin gene cluster and nondeletional mutations. Separate detections of them are often required using complex and error-prone open-tube methods. We report a novel real-time PCR-based assay that can simultaneously genotype four major deletional and three common nondeletional mutations in two parallel reactions by using multicolor melting curve analysis...
May 12, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28503568/a-novel-72-t%C3%A2-a-%C3%AE-promoter-mutation-causing-slightly-elevated-hba2-in-a-vietnamese-heterozygote
#8
Monica Pirastru, Paolo Mereu, Chau Quynh Nguyen, Nhan Viet Nguyen, Thang Duy Nguyen, Laura Manca
We report a novel β(+)-thalassemia mutation found in a Vietnamese family. The molecular defect T→A lies at -72 of the β-globin gene promoter, within the conserved CCAAT box. The index case was a 5-year-old child having red blood cells indices close to normal and slightly increased level of HbA2 (3.96%). The expression of the mutated β allele was inferred by luciferase reporter assay in K562 cells. The β -72 determinant is the eighth β-thalassemic mutation identified in Vietnam and it was not previously reported in any population...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28500860/interventions-for-preventing-silent-cerebral-infarcts-in-people-with-sickle-cell-disease
#9
REVIEW
Lise J Estcourt, Patricia M Fortin, Sally Hopewell, Marialena Trivella, Carolyn Doree, Miguel R Abboud
BACKGROUND: Sickle cell disease (SCD) is one of the commonest severe monogenic disorders in the world, due to the inheritance of two abnormal haemoglobin (beta globin) genes. SCD can cause severe pain, significant end-organ damage, pulmonary complications, and premature death. Silent cerebral infarcts are the commonest neurological complication in children and probably adults with SCD. Silent cerebral infarcts also affect academic performance, increase cognitive deficits and may lower intelligence quotient...
May 13, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28500341/determinants-of-neuroglobin-plasticity-highlighted-by-joint-coarse-grained-simulations-and-high-pressure-crystallography
#10
Nathalie Colloc'h, Sophie Sacquin-Mora, Giovanna Avella, Anne-Claire Dhaussy, Thierry Prangé, Beatrice Vallone, Eric Girard
Investigating the effect of pressure sheds light on the dynamics and plasticity of proteins, intrinsically correlated to functional efficiency. Here we detail the structural response to pressure of neuroglobin (Ngb), a hexacoordinate globin likely to be involved in neuroprotection. In murine Ngb, reversible coordination is achieved by repositioning the heme more deeply into a large internal cavity, the "heme sliding mechanism". Combining high pressure crystallography and coarse-grain simulations on wild type Ngb as well as two mutants, one (V101F) with unaffected and another (F106W) with decreased affinity for CO, we show that Ngb hinges around a rigid mechanical nucleus of five hydrophobic residues (V68, I72, V109, L113, Y137) during its conformational transition induced by gaseous ligand, that the intrinsic flexibility of the F-G loop appears essential to drive the heme sliding mechanism, and that residue Val 101 may act as a sensor of the interaction disruption between the heme and the distal histidine...
May 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28499394/sar1a-promoter-polymorphisms-are-not-associated-with-fetal-hemoglobin-in-patients-with-sickle-cell-disease-from-cameroon
#11
Gift Dineo Pule, Valentina Josiane Ngo Bitoungui, Bernard Chetcha Chemegni, Andre Pascal Kengne, Ambroise Wonkam
BACKGROUND: Reactivation of adult hemoglobin (HbF) is currently a dominant therapeutic approach to sickle cell disease (SCD). In this study, we have investigated among SCD patients from Cameroon, the association of HbF level and variants in the HU-inducible small guanosine triphosphate-binding protein, secretion-associated and RAS-related (SAR1a) protein, previously shown to be associated with HbF after HU treatment in African American SCD patients. RESULTS: Only patients >5 years old were included; hemoglobin electrophoresis and a full blood count were conducted upon arrival at the hospital...
May 12, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28497611/co-inheritance-of-%C3%AE-0-thalassemia-elevates-hb-a2-level-in-homozygous-hb-e-diagnostic-implications
#12
K Singha, H Srivorakun, G Fucharoen, S Fucharoen
INTRODUCTION: Differentiation of homozygous hemoglobin (Hb) E with and without α(0) -thalassemia is subtle on routine hematological ground. We examined in a large cohort of homozygous Hb E if the level of Hb A2 is helpful. METHODS: A total of 592 subjects with homozygous Hb E were recruited from ongoing thalassemia screening program. Additionally, five couples at risk of having fetuses with Hb Bart's hydrops fetalis who were homozygous Hb E were also investigated...
May 12, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28497434/thalassemia-and-hemoglobinopathies-in-an-ethnic-minority-group-in-central-vietnam-implications-to-health-burden-and-relationship-between-two-ethnic-minority-groups
#13
Nga Thi Nguyen, Kanokwan Sanchaisuriya, Pattara Sanchaisuriya, Hoa Van Nguyen, Hoa Thi Thuy Phan, Goonnapa Fucharoen, Supan Fucharoen
Thalassemia is a genetic condition that can result in long and expensive treatments, and severe thalassemia may lead to death if left untreated. Couples contributing two genes for thalassemia place their children at particular risk for severe thalassemia. Gene frequency of thalassemia varies in Vietnam, but presents remarkably high levels among some ethnic minority groups. Limited information about thalassemia frequency makes prevention and control of thalassemia difficult. This study aimed to determine gene frequency of certain types of thalassemia among 390 women of reproductive age of the Ta-Oi ethnic minority...
May 11, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28485683/cardiac-complications-in-beta-thalassemia-from-mice-to-men
#14
Sirinart Kumfu, Suthat Fucharoen, Siriporn C Chattipakorn, Nipon Chattipakorn
Beta-thalassemia is an inherited hemoglobin disorder caused by reduced or absent synthesis of the beta globin chains of hemoglobin. This results in variable outcomes ranging from clinically asymptomatic to severe anemia, which then typically requires regular blood transfusion. These regular blood transfusions can result in an iron overload condition. The iron overload condition can lead to iron accumulation in various organs, especially in the heart, leading to iron overload cardiomyopathy, which is the major cause of mortality in patients with thalassemia...
January 1, 2017: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28481226/neonatal-expression-of-rna-binding-protein-igf2bp3-regulates-the-human-fetal-adult-megakaryocyte-transition
#15
Kamaleldin E Elagib, Chih-Huan Lu, Goar Mosoyan, Shadi Khalil, Ewelina Zasadzińska, Daniel R Foltz, Peter Balogh, Alejandro A Gru, Deborah A Fuchs, Lisa M Rimsza, Els Verhoeyen, Miriam Sansó, Robert P Fisher, Camelia Iancu-Rubin, Adam N Goldfarb
Hematopoietic transitions that accompany fetal development, such as erythroid globin chain switching, play important roles in normal physiology and disease development. In the megakaryocyte lineage, human fetal progenitors do not execute the adult morphogenesis program of enlargement, polyploidization, and proplatelet formation. Although these defects decline with gestational stage, they remain sufficiently severe at birth to predispose newborns to thrombocytopenia. These defects may also contribute to inferior platelet recovery after cord blood stem cell transplantation and may underlie inefficient platelet production by megakaryocytes derived from pluripotent stem cells...
May 8, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28475449/ivs-ii-648-649-t-hbb-c-316-202del-triggers-a-novel-%C3%AE-thalassemia-phenotype
#16
Azam Azimi, Reza Alibakhshi, Hasibeh Hayati, Soosan Tahmasebi, Sasan Alimoradi
Thalassemia is the most common inherited disorder in Iran. There are approximately 800 different genomic alterations of the β-globin gene described in the HbVar database. In this study, we identified a novel mutation in a 21-year-old woman [IVS-II-648/649 (-T); HBB: c.316-202del)] and describe its clinical implications. Two other members of this family, all with hematological and clinical features associated with β-thalassemia (β-thal), also carried this mutation. The molecular diagnosis of the β-globin gene mutation was performed by direct sequencing...
May 5, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28475397/complex-interaction-of-hb-q-thailand-with-%C3%AE-0-and-%C3%AE-0-thalassemia-in-a-chinese-family
#17
Sheng He, Qian Qin, Li Lin, Qiuli Chen, Shang Yi, Honhwei Wei, Juan Du, Chenguang Zheng, Xiaoxia Qiu, Biyan Chen
Hb Q-Thailand [α74(EF3)Asp→His (α1); HBA1: c.223 G>C] is an abnormal hemoglobin (Hb), variant found mainly in China and Southeast Asian countries. The association of the α(Q)-Thailand allele with other globin gene disorders has important implications in diagnosis. Here, we report a hitherto undescribed condition of patients with a double heterozygosity for Hb Q-Thailand with α(0)-thalassemia (α(0)-thal) and in combination with β(0)-thalassemia (β(0)-thal) in a Chinese family. Our study will provide some clinical manifestations, laboratory diagnosis and genetic counseling for complex hemoglobinopathies...
May 5, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28474362/identification-of-physical-interactions-between-genomic-regions-by-enchip-seq
#18
Toshitsugu Fujita, Miyuki Yuno, Yutaka Suzuki, Sumio Sugano, Hodaka Fujii
Physical interactions between genomic regions play critical roles in the regulation of genome functions, including gene expression. Here, we show the feasibility of using engineered DNA-binding molecule-mediated chromatin immunoprecipitation (enChIP) in combination with next-generation sequencing (NGS) (enChIP-Seq) to detect such interactions. In enChIP-Seq, the target genomic region is captured by an engineered DNA-binding complex, such as a clustered regularly interspaced short palindromic repeats (CRISPR) system consisting of a catalytically inactive form of Cas9 and a single guide RNA...
May 5, 2017: Genes to Cells: Devoted to Molecular & Cellular Mechanisms
https://www.readbyqxmd.com/read/28473619/nrf2-mediates-%C3%AE-globin-gene-regulation-and-fetal-hemoglobin-induction-in-human-erythroid-progenitors
#19
Xingguo Zhu, Biaoru Li, Betty S Pace
No abstract text is available yet for this article.
May 4, 2017: Haematologica
https://www.readbyqxmd.com/read/28466968/clinical-and-genetic-predictors-of-renal-dysfunctions-in-sickle-cell-anaemia-in-cameroon
#20
Amy Geard, Gift D Pule, Bernard Chetcha Chemegni, Valentina J Ngo Bitoungui, Andre P Kengne, Emile R Chimusa, Ambroise Wonkam
Micro-albuminuria and glomerular hyperfiltration are primary indicators of renal dysfunctions in Sickle Cell Disease (SCD), with more severe manifestations previously associated with variants in APOL1 and HMOX1 among African Americans. We have investigated 413 SCD patients from Cameroon. Anthropometric variables, haematological indices, crude albuminuria, albumin-to-creatinine ratio (ACR) and estimated glomerular filtration rate (eGFR) were measured. Patients were genotyped for 3·7 kb alpha-globin gene (HBA1/HBA2) deletion, and for variants in APOL1 (G1/G2; rs60910145, rs73885319, rs71785313) and HMOX1 (rs3074372, rs743811)...
May 3, 2017: British Journal of Haematology
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