Genomes and Genes
Gene Symbol: HBA2
Description: hemoglobin subunit alpha 2
Alias: HBA-T2, HBH, hemoglobin subunit alpha, alpha globin, alpha-2 globin, hemoglobin alpha chain, hemoglobin, alpha 2, mutant hemoglobin alpha 2 globin chain
Publications143 found, 100 shown here
- Frier J, Perutz M. Structure of human foetal deoxyhaemoglobin. J Mol Biol. 1977;112:97-112 pubmed
- Feng L, Gell D, Zhou S, Gu L, Kong Y, Li J, et al. Molecular mechanism of AHSP-mediated stabilization of alpha-hemoglobin. Cell. 2004;119:629-40 pubmed..These observations reveal the molecular mechanisms by which AHSP stabilizes free alphaHb. ..
- Lynch M, Smith A, De Gobbi M, Flenley M, Hughes J, Vernimmen D, et al. An interspecies analysis reveals a key role for unmethylated CpG dinucleotides in vertebrate Polycomb complex recruitment. EMBO J. 2012;31:317-29 pubmed publisher..Furthermore, our results suggest that a high density of unmethylated CpG dinucleotides is sufficient for vertebrate Polycomb recruitment. This model is supported by analysis of DNA methyltransferase-deficient embryonic stem cells. ..
- Chow A, Ghassemifar R, Finlayson J. Alpha thalassaemia due to non-deletional mutations on the -3.7 alpha globin fusion gene: laboratory diagnosis and clinical importance. Pathology. 2013;45:591-4 pubmed publisher..We illustrate how clinical-laboratory correlation and accurate ? gene sequencing are essential in identifying such patients...
- YavaÅŸoÄŸlu Ä, SargÄ±n G, KadÄ±kÃ¶ylÃ¼ G, Karul A, Bolaman Z. Serum Bcl-2 Levels in Patients with Î²-Thalassemia Minor: A Pilot Study. Turk J Haematol. 2014;31:363-6 pubmed publisher..The diagnosis of Î²-thalassemia minor was based on whole blood counts, family history, and HbA2 levels estimated by high-performance liquid chromatography...
- Borgio J. Molecular nature of alpha-globin genes in the Saudi population. Saudi Med J. 2015;36:1271-6 pubmed publisher..There are 2 common types of Î±-globin genes; HBA2 and HBA1. Recently, it has been discovered that the HBA2 gene is replaced by a unique HBA12 gene convert in 5...
- Cheng X, Li M, Wu J, Su W. HbG-Coushatta: an unexpected discovery during HbA1c measurement. Clin Chim Acta. 2015;444:163-6 pubmed publisher..Hemoglobin electrophoresis showed that proportions of HbA2 and HbA were 2.6% and 54.1%, respectively...
- Matos J, Dusse L, Borges K, de Castro R, Coura Vital W, Carvalho M. A new index to discriminate between iron deficiency anemia and thalassemia trait. Rev Bras Hematol Hemoter. 2016;38:214-9 pubmed publisher..trait and ?-thalassemia trait were confirmed by gold standard tests (low serum ferritin for iron deficiency anemia, HbA2>3.5% for ?-thalassemia trait and using molecular biology for the ?-thalassemia trait)...
- Lv J, Luo Z, Fang J, Du T, Xue H, Liu Y, et al. [A novel double heterozygote of HBB c.[219T>A;220G>T]: gene diagnosis and pedigree analysis]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34:538-541 pubmed publisher..probands Hb A2 variant was eluted in Z (C) zone and his father's in Z (A2) zone on CE,and proband's mother elevated HbA2 of 4.6%. Screened by RDB, the proband was CD71-72(+A) homozygote and showed the mismatch with his parents...
- Lacerra G, Fiorito M, Musollino G, Di Noce F, Esposito M, Nigro V, et al. Sequence variations of the alpha-globin genes: scanning of high CG content genes with DHPLC and DG-DGGE. Hum Mutat. 2004;24:338-49 pubmedThe alpha-globin chains are encoded by two duplicated genes (HBA2 and HBA1, 5'-3') showing overall sequence homology >96% and average CG content >60%...
- Gong X, Yang X, Qiao L, Cheng Y, Zhou W. [Rapid detection of alpha-globin gene ???anti-3.7 triplets with droplet digital PCR]. Nan Fang Yi Ke Da Xue Xue Bao. 2017;37:1265-1269 pubmed..7. This ddPCR-based method for detecting ???anti-3.7 triplet can be applied for population screening and in routine clinical molecular diagnosis with simple operation, rapid analysis and accurate results. ..
- de Jong W, Meera Khan P, Bernini L. Hemoglobin Koya Dora: high frequency of a chain termination mutant. Am J Hum Genet. 1975;27:81-90 pubmed..Hb DK resembles the previously described Hb Constant Spring [6, 7] in many aspects, probably also in its alpha thalassemia-like expression. ..
- Clegg J, Weatherall D, Contopolou Griva I, Caroutsos K, Poungouras P, Tsevrenis H. Haemoglobin Icaria, a new chain-termination mutant with causes alpha thalassaemia. Nature. 1974;251:245-7 pubmed
- Ang S, Rambeli M, Thevarajah T, Alias Y, Khor S. Quantitative, single-step dual measurement of hemoglobin A1c and total hemoglobin in human whole blood using a gold sandwich immunochromatographic assay for personalized medicine. Biosens Bioelectron. 2016;78:187-193 pubmed publisher..excellent selectivity (100%) toward HbA1c at distinctive test lines when challenged with HbA0, glycated HbA0 and HbA2. The reproducibility of the measurement was good (6...
- Nefedochkina A, Petrova N, Ioudinkova E, Kovina A, Iarovaia O, Razin S. Characterization of the enhancer element of the Danio rerio minor globin gene locus. Histochem Cell Biol. 2016;145:463-73 pubmed publisher..Both enhancers appear to have emerged as a result of independent evolution of a duplicated regulatory element present in an ancestral single alpha-/beta-globin locus that existed before teleost-specific genome duplication. ..
- Huo M, Wu W, Liu M, Gan Z, Mao W, Lin R, et al. [Analysis of Cut-off Value in Screening of Thalassemia by Capillary Hemoglobin Electrophoresis for Pregnant Women from Shenzhen Region of China]. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2016;24:536-9 pubmed publisher..screening of thalassemia was determined by receiver operating characteristic curve and next to analyze the value of HbA2 and HbF in screening of thalassemia using the decided cut-off value...
- Jiang H, Huang L, Zhen L, Jiang F, Li D. Two ?1-Globin Gene Point Mutations Causing Severe Hb H Disease. Hemoglobin. 2017;:1-4 pubmed publisher..carrying transfusion-dependent Hb H disease were investigated for rare mutations on the ?-globin genes (HBA1, HBA2). In one family, Hb Zürich-Albisrieden [?59(E8)Gly?Arg; HBA1: c...
- Perseu L, Satta S, Moi P, Demartis F, Manunza L, Sollaino M, et al. KLF1 gene mutations cause borderline HbA(2). Blood. 2011;118:4454-8 pubmed publisher..8% of the total. The frequent discovery of KLF1 mutations in these atypical carriers may contribute significantly to the thalassemia screening programs aimed at identification of at risk couples. ..
- Ke P, Liu J, Chao Y, Wu X, Xiong Y, Lin L, et al. Measurement of HbA1c and HbA2 by Capillarys 2 Flex Piercing HbA1c programme for simultaneous management of diabetes and screening for thalassemia. Biochem Med (Zagreb). 2017;27:030704 pubmed publisher..We used Capillarys 2 Flex Piercing (Capillarys 2FP) HbA1c programme to simultaneously measure HbA1c and screen for thalassemia...
- Olivieri N, Chang L, Poon A, Michelson A, Orkin S. An alpha-globin gene initiation codon mutation in a black family with HbH disease. Blood. 1987;70:729-32 pubmed..7) deletion chromosome. This mutation abolished an Ncol restriction site and therefore is detectable in genomic DNA by Southern blot analysis. ..
- Orisaka M, Tajima T, Harano T, Harano K, Kushida Y, Imai K. A new alpha chain variant, Hb Hanamaki or alpha 2(139)(HC1)Lys----Glu beta 2, found in a Japanese family. Hemoglobin. 1992;16:67-71 pubmed
- Marotta C, Forget B, Weissman S, Verma I, McCaffrey R, Baltimore D. Nucleotide sequences of human globin messenger RNA. Proc Natl Acad Sci U S A. 1974;71:2300-4 pubmed
- Michel B, Igic R, Leray V, Deddish P, Erdos E. Removal of Arg141 from the alpha chain of human hemoglobin by carboxypeptidases N and M. Circ Res. 1996;78:635-42 pubmed..Thus, the hydrolysis of hemoglobin by CPM and CPN demonstrated the contribution of the alpha-Arg141 residue to sustaining the tetrameric structure of hemoglobin and its normal oxygen affinity and vasoactivity. ..
- Singsanan S, Fucharoen G, Savongsy O, Sanchaisuriya K, Fucharoen S. Molecular characterization and origins of Hb Constant Spring and Hb Paksé in Southeast Asian populations. Ann Hematol. 2007;86:665-9 pubmed
- Hamid M, Bokharaei Merci H, Galehdari H, Saberi A, Kaikhaei B, Mohammadi Anaei M, et al. A novel alpha-thalassemia nonsense mutation in HBA2: C.382 A > T globin gene. Arch Iran Med. 2014;17:475-6 pubmed publisherIn this study, a new alpha globin gene mutation on the ?2-globin gene is reported. This mutation resulted in a Lys > stop codon substitution at position 127 which was detected in four individuals (three males and one female)...
- Jomoui W, Fucharoen G, Sanchaisuriya K, Nguyen V, Fucharoen S. Hemoglobin Constant Spring among Southeast Asian Populations: Haplotypic Heterogeneities and Phylogenetic Analysis. PLoS ONE. 2015;10:e0145230 pubmed publisher..Accurate genotyping of the cases requires both hematologic and DNA analyses. At least two independent origins are associated with the Hb CS gene which could indirectly explain the high prevalence of this Hb variant in the region. ..
- Kumar Yadav A, Rusia U. HbQ-India associated with microcytosis: An uncommon hemoglobin variant associated with a common hematologic condition. Turk J Haematol. 2010;27:200-3 pubmed publisher..Abnormal hemoglobin in the patient was confirmed by molecular diagnosis. HbQ variants are the alpha globin chain variants due to structural mutations (?64 Asp?His) inherited in autosomal dominant fashion...
- Waye J, Eng B, Patterson M, Chui D, Olivieri N. Identification of a novel termination codon mutation (TAA-->TAT, Term-->Tyr) in the alpha 2 globin gene of a Laotian girl with hemoglobin H disease. Blood. 1994;83:3418-20 pubmed
- Waye J, Eng B, Chui D, Powers P, Lafferty J. Second report of Hb Toulon [alpha77(EF6)Pro-->His] in a Canadian family of Italian descent. Hemoglobin. 2000;24:359-60 pubmed
- Hoyer J, McCormick D, Snow K, Kwon J, Booth D, Duarte M, et al. Four new variants of the alpha2-globin gene without clinical or hematologic effects: Hb Park Ridge [alpha9(alpha7)Asn-->Lys (alpha2)], Hb Norton [alpha72(EF1)His-->Asp (alpha2)], Hb Lombard [alpha103(G10)His-->Tyr (alpha2)], and Hb San Anton. Hemoglobin. 2002;26:175-9 pubmed
- Kanaori K, Tajiri Y, Tsuneshige A, Ishigami I, Ogura T, Tajima K, et al. T-quaternary structure of oxy human adult hemoglobin in the presence of two allosteric effectors, L35 and IHP. Biochim Biophys Acta. 2011;1807:1253-61 pubmed publisher..This article is part of a Special Issue entitled: Allosteric cooperativity in respiratory proteins. ..
- Li X, Wu Z, Wang Y, Mei Q, Fu X, Han W. Characterization of adult ?- and ?-globin elevated by hydrogen peroxide in cervical cancer cells that play a cytoprotective role against oxidative insults. PLoS ONE. 2013;8:e54342 pubmed publisher..These data provide a significant impact not only in globin biology but also in understanding of cervical cancer pathogenesis associated with oxidative stress. ..
- Li Y, Li R, Li D. Detection of Hb Constant Spring [?142, Term?Gln, TAA>CAA (?2)] in heterozygotes combined with ?-thalassemia. Hemoglobin. 2013;37:197-200 pubmed publisher..In this study, we report that Hb CS heterozygotes combined with ?-thal could not be detected by the Sebia Capillarys2 method due to the very small amount of Hb CS. ..
- Qadah T, Finlayson J, Dennis M, Ghassemifar R. Molecular and cellular analysis of three novel alpha2-globin gene promoter mutations [HBA2: c.-59C>T], [HBA2: c.-81C>A] and [HBA2: c.-91G>A] reveal varying patterns of transcriptional and translational activities. Pathology. 2014;46:46-52 pubmed publisher..there are no well characterised reports of any point mutations currently found in the promoter of the ?2-globin (HBA2) gene. We present clinical and experimental data for three novel HBA2 gene core and proximal promoter mutations...
- BÃ³ S, de Oliveira Lemos F, Pedrazzani F, Cagliari C, Scotti L. Reference interval determination of hemoglobin fractions in umbilical cord and placental blood by capillary electrophoresis. Clin Biochem. 2016;49:521-523 pubmed publisher..The objective of the present study was to determine the reference interval for HbA, HbF, and HbA2 in UCPB using capillary electrophoresis...
- Fougerousse F, Meloni R, Roudaut C, Beckmann J. Dinucleotide repeat polymorphism at the human hemoglobin alpha-1 pseudo-gene (HBAP1). Nucleic Acids Res. 1992;20:1165 pubmed
- Badens C, Lena Russo D, Lacan P, Francina A, Prome D, Riou J, et al. Hb Toulon [alpha77(EF6)Pro-->His]: a new variant due to a mutation in the alpha2 gene found during measurement of glycated hemoglobin. Hemoglobin. 1999;23:367-71 pubmed
- McBride K, Snow K, Kubik K, Fairbanks V, Hoyer J, Fairweather R, et al. Hb Dartmouth [alpha66(E15)Leu-->Pro (alpha2) (CTG-->CCG)]: a novel alpha2-globin gene mutation associated with severe neonatal anemia when inherited in trans with Southeast Asian alpha-thalassemia-1. Hemoglobin. 2001;25:375-82 pubmed..The mother, of Khmer ancestry, is heterozygous for alpha-thalassemia-1. The father, who is of Scottish-Irish ancestry, is a silent carrier of the codon 66 mutation. The twins had severe neonatal anemia requiring transfusion. ..
- Ballas S. Effect of alpha-globin genotype on the pathophysiology of sickle cell disease. Pediatr Pathol Mol Med. 2001;20:107-21 pubmed..Thus, there are trade-offs involved in this interaction in which the salutary effects are undermined by harmful ones. ..
- Bento C, Oliveira A, Neves J, Gameiro M, Cunha E, Coucelo M, et al. Hb Iberia [?104(G11)Cys ? Arg,TGC>CGC (?2) (HBA2:c.313T>C)], a new ?-thalassemic hemoglobin variant found in the Iberian Peninsula: report of six cases. Hemoglobin. 2012;36:517-25 pubmed publisher..Direct sequencing of the ?2-globin gene revealed a substitution of codon 104 [?104(G11)Cys?Arg, TGC>CGC (?2) (HBA2:c.313T>C)]...
- Sagar C, Kumar R, Sharma D, Kishor P. Alpha hemoglobin stabilizing protein: Its causal relationship with the severity of beta thalassemia. Blood Cells Mol Dis. 2015;55:104-7 pubmed publisher..The severity of symptoms correlates with the alpha/non-alpha globin imbalance and is proportional to the magnitude of alpha chain excess...
- Efremov G, Josifovska O, Nikolov N, Codrington J, Oner C, Gonzalez Redondo J, et al. Hb Icaria-Hb H disease: identification of the Hb Icaria mutation through analysis of amplified DNA. Br J Haematol. 1990;75:250-3 pubmed..The mutation is located on the alpha 2-globin gene; the one remaining alpha 1-globin gene is apparently able to compensate sufficiently for the loss of the three alpha-globin genes to maintain a haemoglobin level of 8-9 g/dl. ..
- Goossens M, Lee K, Liebhaber S, Kan Y. Globin structural mutant alpha 125Leu leads to Pro is a novel cause of alpha-thalassaemia. Nature. 1982;296:864-5 pubmed
- Wajcman H, Kalmes G, Groff P, Prome D, Riou J, Galacteros F. Hb Melusine [alpha 114(GH2)Pro-->Ser]: a new neutral hemoglobin variant. Hemoglobin. 1993;17:397-405 pubmed
- Kong J, Sumaroka M, Eastmond D, Liebhaber S. Shared stabilization functions of pyrimidine-rich determinants in the erythroid 15-lipoxygenase and alpha-globin mRNAs. Mol Cell Biol. 2006;26:5603-14 pubmed..The findings also suggest that initial binding of alphaCP to target mRNAs occurs in the nucleus. Assembly of stabilizing mRNP complexes in the nucleus prior to export may maximize their impact on cytoplasmic events. ..
- da Silveira Mitteldorf C, de Sousa Canavez J, Leite K, Massumoto C, Camara Lopes L. FN1, GALE, MET, and QPCT overexpression in papillary thyroid carcinoma: molecular analysis using frozen tissue and routine fine-needle aspiration biopsy samples. Diagn Cytopathol. 2011;39:556-61 pubmed publisher..In this study, a total of 70 thyroid samples were evaluated for the expression of MPPED2, H/HBA2, MET, FN1, GALE, and QPCT genes, including 24 cases of frozen thyroid tissue, 12 nodular hyperplasia and 12 PC, and ..
- Annarapu G, Singhal R, Peng Y, Guchhait P. Inhibition of Hb Binding to GP1b? Abrogates Hb-Mediated Thrombus Formation on Immobilized VWF and Collagen under Physiological Shear Stress. PLoS ONE. 2016;11:e0154276 pubmed publisher..Thus suggesting a probable role of this mechanism in facilitating thrombosis under hemolytic conditions. ..
- Meier E, Fasano R, Levett P. A systematic review of the literature for severity predictors in children with sickle cell anemia. Blood Cells Mol Dis. 2017;65:86-94 pubmed publisher..Fifty-four articles were included in the analysis. Alpha globin gene number was the most commonly studied severity predictor, followed by fetal hemoglobin (HbF) and ..
- Tomasco I, Boullosa N, Hoffmann F, Lessa E. Molecular adaptive convergence in the Î±-globin gene in subterranean octodontid rodents. Gene. 2017;628:275-280 pubmed publisher..We examined sequence variation in the alpha globin subunit gene of hemoglobine in these lineages, within a robust phylogenetic context...
- Liebhaber S, Goossens M, Kan Y. Homology and concerted evolution at the alpha 1 and alpha 2 loci of human alpha-globin. Nature. 1981;290:26-9 pubmed
- Barbour V, Tufarelli C, Sharpe J, Smith Z, Ayyub H, Heinlein C, et al. alpha-thalassemia resulting from a negative chromosomal position effect. Blood. 2000;96:800-7 pubmed..These findings highlight the importance of the chromosomal environment in regulating globin gene expression. ..
- Miele A, Draghi F, Arcovito A, Bellelli A, Brunori M, Travaglini Allocatelli C, et al. Control of heme reactivity by diffusion: structural basis and functional characterization in hemoglobin mutants. Biochemistry. 2001;40:14449-58 pubmed
- Sollaino M, Paglietti M, Perseu L, Giagu N, Loi D, Galanello R. Association of ? globin gene quadruplication and heterozygous ? thalassemia in patients with thalassemia intermedia. Haematologica. 2009;94:1445-8 pubmed publisher..Analysis of the alpha globin gene cluster with PCR-based methods (MLPA, GAP-PCR, digestion with restriction enzymes) detected complex ..
- Shin M, Chen C, Liu S, Huang C, Lee T, Chan W, et al. Hb Ube-2 in a Taiwanese subject: an A-->G substitution at codon 68 of the alpha2-globin gene. Hemoglobin. 2002;26:99-101 pubmed
- Burnichon N, Lacan P, Becchi M, Zanella Cleon I, Aubry M, Mowafy M, et al. A new alpha chain hemoglobin variant: Hb Al-Hammadi Riyadh [alpha75(EF4)Asp-->Val (alpha2)]. Hemoglobin. 2006;30:155-64 pubmed..The variant was characterized by DNA sequencing and mass spectrometry (MS). The variant was found during a routine Hb analysis for anemia in a 16-month-old boy who lived in Riyadh, Kingdom of Saudi Arabia. ..
- Shibayama N, Sugiyama K, Tame J, Park S. Capturing the hemoglobin allosteric transition in a single crystal form. J Am Chem Soc. 2014;136:5097-105 pubmed publisher..These findings reveal a comprehensive picture of the equilibrium conformers and transition pathway for human hemoglobin. ..
- Farra C, Daher R, Badra R, El Rafei R, Bejjany R, Charafeddine L, et al. Incidence of alpha-globin gene defect in the Lebanese population: a pilot study. Biomed Res Int. 2015;2015:517679 pubmed publisher..These results may be of an important impact on premarital and newborn screening policies in our country. ..
- Marinucci M, Mavilio F, Massa A, Gabbianelli M, Fontanarosa P, Camagna A, et al. A new abnormal human hemoglobin: Hb Prato (alpha 2 31 (B12) Arg leads to Ser beta 2). Biochim Biophys Acta. 1979;578:534-40 pubmed..Family studies indicated that the variant had been inherited from the mother, a 39-year-old woman of Sicilian extraction. Hb Prato occurs at 20 and 28% in hemolysates from the boy and woman, respectively. ..
- Twomey A, Brasch J, Betheras F, Bowden D. A new alpha2-globin gene [codon 90 (AAG --> TAG)] nonsense mutation. Hemoglobin. 2003;27:261-5 pubmed
- Fucharoen S, Fucharoen G, Sae ung N, Sanchaisuriya K. Thalassemia intermedia associated with the Hb Constant Spring EE Bart's disease in pregnancy: a molecular and hematological analysis. Blood Cells Mol Dis. 2007;39:195-8 pubmed..Different genotype-phenotype correlations observed in these Thai patients with these disorders are illustrated. ..
- Moosavi S, Amirian A, Zarbakhsh B, Kordafshari A, Mirzahoseini H, Zeinali S, et al. The carrier frequency of ?-globin gene triplication in an Iranian population with normal or borderline hematological parameters. Hemoglobin. 2011;35:323-30 pubmed publisher..Therefore, an accurate determination of the frequencies and a routine control for these mutations is essential for a correct genotype-phenotype prediction during genetic counseling for ?-thal. ..
- Yus Cebrian F, Recaséns Flores M, Izquierdo Alvarez S, Parra Salinas I, Rodriguez Vigil Iturrate C. Combination of a triple alpha-globin gene with beta-thalassemia in a gypsy family: importance of the genetic testing in the diagnosis and search for a donor for bone marrow transplantation for one of their children. BMC Res Notes. 2016;9:220 pubmed publisher..7)/??) caused by double heterozygosity for a 3.7 kb fragment that contained only the hemoglobin alpha globin gene-2 gene...
- Surapolchai P, Chuansumrit A, Sirachainan N, Kadegasem P, Leung K, So C. A molecular study on the role of alpha-hemoglobin-stabilizing protein in hemoglobin H disease. Ann Hematol. 2017;96:1005-1014 pubmed publisherThe clinical course of hemoglobin H (HbH) disease is remarkably variable. It is not completely clear how genetic and environmental factors interplay to modify clinical severity in affected individuals...
- Mirlohi M, Yaghooti H, Shirali S, Aminasnafi A, Olapour S. Increased levels of advanced glycation end products positively correlate with iron overload and oxidative stress markers in patients with Î²-thalassemia major. Ann Hematol. 2018;97:679-684 pubmed publisherThe impaired biosynthesis of the Î²-globin chain in Î²-thalassemia leads to the accumulation of unpaired alpha globin chains, failure in hemoglobin formation, and iron overload due to frequent blood transfusion...
- Harteveld C, Heister J, Giordano P, Batelaan D, von Delft P, Haak H, et al. An IVS1-116 (A-->G) acceptor splice site mutation in the alpha 2 globin gene causing alpha + thalassaemia in two Dutch families. Br J Haematol. 1996;95:461-6 pubmed..This situation is often associated with a decreased mRNA stability as observed for several nonsense mutations of the beta-globin gene. ..
- Aguinaga M, Kutlar F, Turner E, Park D. Hb Inkster [alpha85(F6)Asp-->Val] found in a caucasian male with polycythemia. Hemoglobin. 2000;24:333-9 pubmed
- Pirastru M, Mereu P, Nguyen C, Nguyen N, Nguyen T, Manca L. A Novel -72 (Tâ†’A) Î²-Promoter Mutation Causing Slightly Elevated HbA2 in a Vietnamese Heterozygote. Biomed Res Int. 2017;2017:4537409 pubmed publisher..Our results further underline the importance of identifying and characterizing new or rare Î²+-thalassemic alleles in carrier screening and prenatal diagnosis. ..
- Wilkie A, Lamb J, Harris P, Finney R, Higgs D. A truncated human chromosome 16 associated with alpha thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n. Nature. 1990;346:868-71 pubmed..with terminal truncation of the short arm of chromosome 16 (within band 16p13-3) to a site 50 kb distal to the alpha globin genes, and show that (TTAGGG)n has been added directly to the site of the break...
- Cash F, Monplaisir N, Goossens M, Liebhaber S. Locus assignment of two alpha-globin structural mutants from the Caribbean basin: alpha Fort de France (alpha 45 Arg) and alpha Spanish Town (alpha 27 Val). Blood. 1989;74:833-5 pubmed..These results further define the distribution of alpha-globin structural mutations within the alpha-globin gene cluster and substantiate the dominant role of the alpha 2-globin locus in alpha-globin expression. ..
- Liebhaber S, Rappaport E, Cash F, Ballas S, Schwartz E, Surrey S. Hemoglobin I mutation encoded at both alpha-globin loci on the same chromosome: concerted evolution in the human genome. Science. 1984;226:1449-51 pubmed..Kindred analysis confirms that the two affected genes are located in cis. The most likely explanation for this finding is that a recent conversion event occurred within the human alpha-globin gene cluster. ..
- Villegas A, Hojas R, Noguera N, Ropero P, Sanchez J, Gonzalez F, et al. Hb Clinico-Madrid [alpha90(FG2)Lys-->Arg]: a new hemoglobin mutation in the alpha2-globin gene. Hemoglobin. 2000;24:341-5 pubmed
- Phylipsen M, Vogelaar I, Schaap R, Arkesteijn S, Boxma G, van Helden W, et al. A new alpha(0)-thalassemia deletion found in a Dutch family (--(AW)). Blood Cells Mol Dis. 2010;45:133-5 pubmed publisher..Because of a 25% risk of Hb Bart's with hydrops foetalis in the offspring when in combination with another alpha(0)-thalassemia allele, it is important to diagnose this deletion. ..
- Villegas A, Ropero P, Anguita E, Hernández A, Polo M, Ataulfo González F. [Molecular characterization of two new mutations of ?° thalassemia in two Spanish families (mutation --(ED) and --(GP))]. Med Clin (Barc). 2011;136:674-7 pubmed publisher..4 bp. In both mutations both alpha genes were deleted, the gene ? and the region HS40. The exact identification of these deletions is essential to determine the function of the genes ? with a view to a possible genetic diagnosis. ..
- Megawati D, Nainggolan I, Swastika M, Susanah S, Mose J, Harahap A, et al. Severe ?-thalassemia intermedia due to a compound heterozygosity for the highly unstable Hb Adana (HBA2: c.179G>A) and a novel codon 24 (HBA2: c.75T>A) mutation. Hemoglobin. 2014;38:149-51 pubmed publisherWe report a novel mutation at codon 24 of the ?2-globin gene (HBA2: c.75T?>?A) found in a Sundanese family. This novel mutation was detected during prenatal diagnosis...
- Lou J, He Y, Liu Y, Zhong B, Zhao Y, He X, et al. Detection of Hb anti-Lepore Hong Kong (NG_000007.3: g.63154_70565dup) in Chinese individuals. Hemoglobin. 2014;38:146-8 pubmed publisher..We found that this anti-Lepore variant is positioned in zone 3 on the capillary electrophoresis system. It may help in differential diagnosis of Hb variants and providing better information in clinical counseling. ..
- Hodonsky C, Jain D, Schick U, Morrison J, Brown L, McHugh C, et al. Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos. PLoS Genet. 2017;13:e1006760 pubmed publisher..Together, these results reinforce the importance of genetic study of diverse ancestral populations, in particular Hispanics/Latinos. ..
- Hundrieser J, Sanguansermsri T, Laig M, Pape M, Kühnau W, Flatz G. Direct demonstration of the HB Suan-Dok mutation in the alpha 2-globin gene by restriction analysis with Sma I. Hemoglobin. 1990;14:69-77 pubmed..The location in the alpha 2-globin gene was confirmed. The distribution of alpha-globin gene anomalies and a beta-thalassemia gene in the original family, deduced from examinations at the protein level, was verified by DNA analysis. ..
- Reed R, Winter W, Rucknagel D. Haemoglobin inkster (alpha2 85aspartic acid leads to valine beta2) coexisting with beta-thalassaemia in a Caucasian family. Br J Haematol. 1974;26:475-84 pubmed