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
Publications235 found, 100 shown here
- Jain D, Warthe V, Dayama P, Sarate D, Colah R, Mehta P, et al. Sickle Cell Disease in Central India: A Potentially Severe Syndrome. Indian J Pediatr. 2016;83:1071-6 pubmed publisher..b>Alpha globin gene deletions occurred in only 8/49 (16Â %) SS disease but fetal hemoglobin (HbF) levels were markedly ..
- Paleari R, Caruso D, Kaiser P, Arsene C, Schaeffer Reiss C, Van Dorsselaer A, et al. Developing a reference system for the IFCC standardization of HbA2. Clin Chim Acta. 2017;467:21-26 pubmed publisher..Here, we review the past, present and future of HbA2 standardization and describe the current status of HbA2 testing. ..
- Yasmeen H, Toma S, Killeen N, Hasnain S, Foroni L. The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population. Eur J Med Genet. 2016;59:355-62 pubmed publisher..patients, identified on the ground of haematological parameters, were screened for mutations of the Alpha (HBA2 and HBA1) and Beta (HBB) Globin genes as well as Gamma (HBG2) Globin gene, -158 G? XmnI polymorphism, using a ..
- Paleari R, Ceriotti F, Harteveld C, Strollo M, Bakker Verweij G, ter Huurne J, et al. Calibration by commutable control materials is able to reduce inter-method differences of current high-performance methods for HbA2. Clin Chim Acta. 2018;477:60-65 pubmed publisher..6%. The use of adequate commutable control materials as calibrators may reduce the inter-method variability of routine methods to an extent closer to the current analytical goals of bias based on biological variability. ..
- Shih M, Peng C, Chang J, Liu S, Kuo P, Chang J. Hb Prato [alpha31(B12)Arg --> Ser (A2)] and alpha-thalassemia in a Taiwanese. Hemoglobin. 2003;27:45-7 pubmed
- Pornprasert S, Treesuwan K, Punyamung M, Kongthai K. Hb A2/E levels found in co-inheritance with the ?-thalassemia-1 - -(SEA)/type deletion and either Hb E or ?-thalassemia. Hemoglobin. 2012;36:381-7 pubmed publisher..0% of Hb E trait had Hb A(2)/E at higher levels. Accordingly, the Hb A(2)/E level at 21.54% is the best indicator for predicting co-inheritance of the ?-thal-1 - -(SEA)/ deletion and Hb E trait. ..
- Straub A, Lohman A, Billaud M, Johnstone S, Dwyer S, Lee M, et al. Endothelial cell expression of haemoglobin ? regulates nitric oxide signalling. Nature. 2012;491:473-7 pubmed publisher..a new model for the regulation of NO signalling by demonstrating that haemoglobin (Hb) ? (encoded by the HBA1 and HBA2 genes in humans) is expressed in human and mouse arterial endothelial cells and enriched at the myoendothelial ..
- Chen B, Lin L, Yi S, Chen Q, Wei H, Li G, et al. A Novel Mutation of the ?2-Globin Gene Causing ?+-Thalassemia: Hb Nanning (HBA2: c.369_370delinsGA). Hemoglobin. 2017;41:56-58 pubmed publisherWe report a novel mutation on the ?2-globin gene, Hb Nanning (HBA2:c.369_370delinsGA) detected in a Chinese family...
- Zhao W, Wilson J, Huisman T. Low quantities of Hb Boyle Heights or alpha 2(6)(A4)Asp----O beta 2 observed in three members of a Caucasian family. Hemoglobin. 1990;14:637-40 pubmed
- Giardina B, Messana I, Scatena R, Castagnola M. The multiple functions of hemoglobin. Crit Rev Biochem Mol Biol. 1995;30:165-96 pubmed
- Waye J, Eng B, Dutly F, Frischknecht H. alpha-Thalassemia caused by two novel splice mutations of the alpha2-globin gene: IVS-I-1 (G>A and G>T). Hemoglobin. 2009;33:519-22 pubmed publisher..The available data indicated that both mutations reduce the efficiency of proper mRNA splicing, resulting in alpha(+)-thalassemia (alpha(+)-thal). ..
- Pang W, Weng X, Ye X, Long J, Wu S, Sun L, et al. Identification of a variation in the IVSII of Î±2 gene and its frequency in the population of Guangxi. Gene. 2016;583:24-8 pubmed publisher..1). Through sequencing, this variation was identified as HBA2: c.301-24delGinsCTCGGCCC. The gene polymorphisms similar to HBA2:c.301-24delGinsCTCGGCCC are Î±121 and Î±212...
- Proudfoot N, Maniatis T. The structure of a human alpha-globin pseudogene and its relationship to alpha-globin gene duplication. Cell. 1980;21:537-44 pubmed..We discuss the possible evolutionary origin of psi alpha 1 and other globin pseudogenes in the context of globin gene duplication. ..
- Taylor K, Tang J, Cheng Y, Winkler H. The use of electron tomography for structural analysis of disordered protein arrays. J Struct Biol. 1997;120:372-86 pubmed..Application of the method to 3-D reconstructions Application of the method to 3-D reconstructions of insect flight muscle is described as well as prospects for extension of the method to radiation-sensitive specimens. ..
- Khan S, Butt F, Riazuddin S, Galanello R. Hb Sallanches [alpha104(G11)Cys-->Tyr]: a rare alpha2-globin chain variant found in the homozygous state in three members of a Pakistani family. Hemoglobin. 2000;24:31-5 pubmed..This is the third case of Hb Sallanches and the first case with three homozygous patients reported in Pakistan. Due to the different ethnic origins of the patients, it is very likely an independent mutation. ..
- Lacan P, Becchi M, Zanella Cleon I, Aubry M, Renaudier P, Francin A. Two new alpha chain variants: Hb Part-Dieu [alpha65(E14)Ala --> Thr (alpha2)] and Hb Decines-Charpieu [alpha69(E18)Ala --> Thr (alpha2)]. Hemoglobin. 2004;28:51-7 pubmed
- De Gobbi M, Anguita E, Hughes J, Sloane Stanley J, Sharpe J, Koch C, et al. Tissue-specific histone modification and transcription factor binding in alpha globin gene expression. Blood. 2007;110:4503-10 pubmed..This 220-kb region includes the alpha globin genes and 9 widely expressed genes flanking the alpha globin locus...
- Joly P, Lacan P, Bererd M, Garcia C, Zanella Cleon I, Becchi M, et al. Description of two new alpha variants: Hb Canuts [alpha85(F6)Asp-->His (alpha1)] and Hb Ambroise Pare [alpha117(GH5)Phe-->Ile (alpha2)]; two new beta variants: Hb Beaujolais [beta84(EF8)Thr-->Asn] and Hb Monplaisir [beta147 (Tyr-Lys-Leu-Ala-. Hemoglobin. 2009;33:196-205 pubmed publisher..Globin chain separation by reversed phase liquid chromatography (RP-LC) appears to be the most relevant method. ..
- Chandrashekar V. Minor hemoglobins other than A2 in iron deficiency. Lab Med. 2014;45:331-5; quiz e158 pubmed publisherTo determine any difference in levels of minor hemoglobins, other than hemoglobin A2 (HbA2), in patients with iron deficiency...
- Kattamis A, Delaporta P, Fylaktou I, Vrettou C, Kyriakopoulou D, Stamoulakatou A, et al. Hb Souli, a 6 bp in-frame deletion on the HBA2 gene (HBA2: c.[41-46delCCTGGG]) leads to Î±-thalassemia intermedia, when in trans to a single Î±-globin gene deletion. Hemoglobin. 2015;39:55-7 pubmed publisher..7 kb deletion in the Î±-globin gene cluster in trans to a novel in-frame 6 bp deletion in the HBA2 gene...
- Pornprasert S, Tookjai M, Punyamung M, Pongpunyayuen P, Treesuwan K. Proficiency testing program for hemoglobin E, A2 and F analysis in Thailand using lyophilized hemoglobin control materials. Clin Chem Lab Med. 2017;: pubmed publisher..quality assessment (EQA) program for hemoglobin analysis that uses lyophilized hemoglobin control materials with HbA2/E in levels as high as those found in people with the ?-thalassemia trait, HbE trait, ?-thalassemia/HbE disease or ..
- Kosasih E, Cai S, Kan Y, Lie Injo L. Hemoglobin constant spring defined by specific oligonucleotide hybridization and hemoglobin D Punjab (beta 121----Gln) in a Batak Indonesian family. Am J Hematol. 1988;29:22-6 pubmed..This explains the resulting readthrough of the untranslated sequence of the mRNA. ..
- Dincol G, Elam D, Kutlar A, Kutlar F. Hb Setif [alpha94(G1)Asp --> Tyr (alpha2)] detected in a Turkish family. Hemoglobin. 2003;27:249-52 pubmed
- Sciarratta G, Ivaldi G, Molaro G, Sansone G, Salkie M, Wilson J, et al. The characterization of hemoglobin Manitoba or alpha (2)102(G9)Ser----Arg beta 2 and hemoglobin Contaldo or alpha (2)103(G10)His----Arg beta 2 by high performance liquid chromatography. Hemoglobin. 1984;8:169-81 pubmed..This variant was observed for the first time in an Italian patient, and was also studied in a member of a previously described Canadian family. ..
- Shaanan B. Structure of human oxyhaemoglobin at 2.1 A resolution. J Mol Biol. 1983;171:31-59 pubmed
- Sharma V, Kumar B, Kumar G, Saxena R. Alpha globin gene numbers: an important modifier of HbE/beta thalassemia. Hematology. 2009;14:297-300 pubmed publisher..Patients inheriting alpha deletions and point mutations behaved mildly with some exceptions, while patients with alpha triplication had a severe phenotype requiring frequent transfusions. ..
- Coelho A, Picanço I, Seuanes F, Seixas M, Faustino P. Novel large deletions in the human alpha-globin gene cluster: Clarifying the HS-40 long-range regulatory role in the native chromosome environment. Blood Cells Mol Dis. 2010;45:147-53 pubmed publisher..in the telomeric region of the short arm of chromosome 16, in an attempt to explain the alpha-thalassemia or the HbH disease present in a group of Portuguese patients...
- Moumni I, Zorai A, Mahjoub S, Mosbahi I, Chaouechi D, Benromdhane N, et al. A new δ chain variant, Hb A2-Tunis [δ46(CD5)Gly → Glu; HBD: c.140G>A], observed in a Tunisian family in association with a compound heterozygosity for Hb C [β6(A3)Glu → Lys; HBB: c.19G>A] β(0)-thalassemia [IVS-I-1 (β143, G>A); HBB: c.92+1G&g. Hemoglobin. 2014;38:88-90 pubmed publisher..19G>A], presenting with a normal Hb A2 level. Phenotype and genotype investigations revealed that the patient has a total Hb A2 level of 7.1% that was expected for a β-thalassemia (β-thal) minor carrier. ..
- Borgio J, Abdulazeez S, Al Nafie A, Naserullah Z, Al Jarrash S, Al Madan M, et al. A novel HBA2 gene conversion in cis or trans: "α12 allele" in a Saudi population. Blood Cells Mol Dis. 2014;53:199-203 pubmed publisher..Increased HbF can modify these disorders. Direct sequencing of the HBA2 and HBA1 genes from 157 Saudi subjects revealed a new HBA2 gene conversion in cis or trans in 5.7% of the total...
- de la Cruz Salcedo E, Ibarra B, Rizo de la Torre L, Sánchez López J, González Mercado A, Harteveld C, et al. Molecular analysis of complex cases of alpha- and beta-thalassemia in Mexican mestizo patients with microcytosis and hypochromia reveals two novel alpha(0) -thalassemia deletions - -(Mex1) and - -(Mex2). Int J Lab Hematol. 2016;38:535-42 pubmed publisher..of ?- and ?-thal alleles in 51 Mexican patients with microcytosis, hypochromia, and normal or low levels of HbA2 . Common deletional alleles (-?(3.7) , -?(4.2) , - -(SEA) , - -(MED) , - -(FIL) , - -(THAI) , -?(20...
- Joly P, Renoux C, Lacan P, Bertrand Y, Cannas G, Garnier N, et al. UGT1A1 (TA)n genotype is not the major risk factor of cholelithiasis in sickle cell disease children. Eur J Haematol. 2017;98:296-301 pubmed publisher..Cholelithiasis is also modulated by RET count, the number of deleted alpha-genes, HU therapy and the frequency of vaso-occlusive events. ..
- Wonkam A, Mnika K, Ngo Bitoungui V, Chetcha Chemegni B, Chimusa E, Dandara C, et al. Clinical and genetic factors are associated with pain and hospitalisation rates in sickle cell anaemia in Cameroon. Br J Haematol. 2017;: pubmed publisher..pain-related genes, three fetal haemoglobin (HbF)-promoting loci, two kidney dysfunctions-related genes, and HBA1/HBA2 genes. Statistical models using regression frameworks were performed in R® ...
- Zhong L, Gan X, Xu L, Liang C, Xie Y, Lin W, et al. The phenomena of balanced effect between ?-globin gene and of ?-globin gene. BMC Med Genet. 2018;19:145 pubmed publisher..8 fL, MCH15.7 pg). Capillary electrophoresis (CE) electropherogram revealed normal level of HbA2 (3.2%) and elevated HbF (35.1%)...
- De Marco E, Crescibene L, Pasqua A, Brancati C, Bria M, Qualtieri A. HB Prato [alpha 31(B12)Arg----Ser] in a Calabrian family. Hemoglobin. 1992;16:275-9 pubmed
- Wilson J, Wilson L, Reddy V, Cavallesco C, Ghosh P, DeRiel J, et al. Nucleotide sequence of the coding portion of human alpha globin messenger RNA. J Biol Chem. 1980;255:2807-15 pubmedThe nucleotide sequence of the coding portion of human alpha globin mRNA has been determined by sequence analysis using human alpha globin cDNA cloned in bacterial plasmids...
- Proudfoot N, Gil A, Maniatis T. The structure of the human zeta-globin gene and a closely linked, nearly identical pseudogene. Cell. 1982;31:553-63 pubmed..Thus, even though the temporal and quantitative expression of zeta- and epsilon-globin genes must be coordinately controlled during development, their evolutionary histories are clearly distinct. ..
- Harano K, Harano T, Shibata S, Mori H, Ueda S, Imai K, et al. Hb J Oxford [alpha 15 (A13) Gly----Asp] in Japan. Hemoglobin. 1984;8:197-8 pubmed
- Shibayama N, Miura S, Tame J, Yonetani T, Park S. Crystal structure of horse carbonmonoxyhemoglobin-bezafibrate complex at 1.55-A resolution. A novel allosteric binding site in R-state hemoglobin. J Biol Chem. 2002;277:38791-6 pubmed..These results disclose a new allosteric mechanism of bezafibrate and offer the first demonstration of how the allosteric effector interacts with R-state hemoglobin. ..
- Bennani M, Mombo L, Chaventre A, Barakat A, Ducrocq R, Nagel R, et al. Origin of Hb A2' (Hb B2) [delta16(A13)Gly --> Arg (GGC --> CGC)]. Hemoglobin. 2003;27:105-10 pubmed..A study of populations from other regions of Africa is required to clarify this issue. ..
- Siala H, Fattoum S, Messaoud T, Ouali F, Gerard N, Krishnamoorthy R. A novel alpha-thalassemia nonsense mutation in codon 23 of the alpha2-globin gene (GAG-->TAG) in a Tunisian family. Hemoglobin. 2004;28:249-54 pubmed..Since the mutation creates a restriction site for the BfaI enzyme, a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)-based assay was established for screening purposes. ..
- Dutly F, Fehr J, Goede J, Morf M, Troxler H, Frischknecht H. A new highly unstable alpha chain variant causing alpha(+)-thalassemia: Hb Zurich Albisrieden [alpha59(E8)Gly-->Arg (alpha2)]. Hemoglobin. 2004;28:347-51 pubmed..Hb Zurich Albisrieden [alpha59(E8)Gly-->Arg (alpha2)] is not detected at the protein level and leads to alpha(+)-thalassemia (thal). ..
- Lacan P, Moreau M, Becchi M, Zanella Cleon I, Aubry M, Louis J, et al. Two new hemoglobin variants: Hb Brem-sur-Mer [beta9(A6)Ser-->Tyr] and Hb Passy [alpha81(F2)Ser-->Pro (alpha2)]. Hemoglobin. 2005;29:69-75 pubmed..In the absence of an association with an alpha-thalassemic deletion or mutation, the mutation 81(F2)Pro could induce a possible alpha-thalassemia (thal). ..
- Ding K, de Andrade M, Manolio T, Crawford D, Rasmussen Torvik L, Ritchie M, et al. Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study. G3 (Bethesda). 2013;3:1061-8 pubmed publisher..Three loci previously associated with resistance to malaria-HBB (11p15.4), HBA1/HBA2 (16p13.3), and G6PD (Xq28)-were associated (P ? 1 × 10(-6)) with RBC traits in the discovery cohort...
- Cita K, Ferdinand S, Connes P, Brudey L, Tressières B, Etienne Julan M, et al. Association of adenylyl cyclase 6 rs3730070 polymorphism and hemolytic level in patients with sickle cell anemia. Blood Cells Mol Dis. 2016;58:21-5 pubmed publisher..032). Our results support a protective effect of adcy6 rs3730070-G variant on hemolysis in SCA patients. ..
- Komvilaisak P, Komvilaisak R, Jetsrisuparb A, Wiangnon S, Jirapradittha J, Kiatchoosakun P, et al. Fetal Anemia Causing Hydrops Fetalis From an Alpha-Globin Variant: Homozygous Hemoglobin Constant Spring. J Pediatr Hematol Oncol. 2017;: pubmed publisher..Fetal anemia is often assumed to be due to red cell alloimmunization and Parvovirus infection, and can lead to hydrops fetalis and death in utero. Other causes, such as mutations of hemoglobin alpha, are less commonly considered...
- Keikhaei B, Slehi Fard P, Shariati G, Khosravi A. Genetics of Iranian Alpha-Thalassemia Patients: A Comprehensive Original Study. Biochem Genet. 2018;56:506-521 pubmed publisher..Significant differences are seen in the spectrum of mutation frequency among various ethnicities. Finally, some missense mutations might not have considerable effect on the proteins, and they could be neutral mutations. ..
- Trepotec Z, Aneja M, Geiger J, Hasenpusch G, Plank C, Rudolph C. Maximizing the translational yield of mRNA therapeutics by minimizing 5'-UTRs. Tissue Eng Part A. 2018;: pubmed publisher..promoter with a Kozak consensus sequence, yielded similar or even higher expression than a 37 nucleotides human alpha globin 5'-UTR containing mRNA in HepG2 and A549 cells...
- Clegg J, Weatherall D, Milner P. Haemoglobin Constant Spring--a chain termination mutant?. Nature. 1971;234:337-40 pubmed
- Wilson J, Phillips K, Luisi B. The crystal structure of horse deoxyhaemoglobin trapped in the high-affinity (R) state. J Mol Biol. 1996;264:743-56 pubmed..These and other differences illustrate how the structural changes in the haem pocket are communicated to the subunit interfaces and how the movements that can occur in the R state may be impeded in the T state. ..
- Hung C, Lee C, Chen C, Jong Y, Hsieh W, Lin W, et al. Molecular assay of -alpha(3.7) and -alpha(4.2) deletions causing alpha-thalassemia by denaturing high-performance liquid chromatography. Clin Biochem. 2007;40:817-21 pubmed..This technique enables the diagnosis of silent alpha+ thalassemia and hemoglobin H disease for large scale population screening. ..
- Oleske D, Huang R, Dasgupta A, Nguyen A, Wahed A. Higher sensitivity of capillary electrophoresis in detecting hemoglobin A2'compared to traditional gel electrophoresis. Ann Clin Lab Sci. 2014;44:291-3 pubmedb>HbA2' (also called Hb B2) is the most common delta-globin chain defect and is reported to occur in 1-2% of the African American population...
- Sumera A, Radhakrishnan A, Baba A, George E. Review: Beta-thalassemia and molecular chaperones. Blood Cells Mol Dis. 2015;54:348-52 pubmed publisher..This review recaps current knowledge regarding the role of molecular chaperones in thalassemia, with a focus on beta thalassemia. ..
- Ãœnal Å, GÃ¼mrÃ¼k F. The Hematological and Molecular Spectrum of Î±-Thalassemias in Turkey: The Hacettepe Experience. Turk J Haematol. 2015;32:136-43 pubmed publisher..SonuÃ§: Ã‡alÄ±ÅŸmamÄ±z Hb H hastalÄ±ÄŸÄ±nÄ±n Ã¼lkemizde nadir olmadÄ±ÄŸÄ±na ve genotipinin heterojen olduÄŸuna iÅŸaret etmektedir. ..
- Seid Akhavan M, Winter W, Abramson R, Rucknagel D. Hemoglobin Wayne: a frameshift mutation detected in human hemoglobin alpha chains. Proc Natl Acad Sci U S A. 1976;73:882-6 pubmed
- Wilson J, Webber B, Kutlar A, Reese A, McKie V, Lutcher C, et al. Hb Evans or alpha 262(E11)Val----Met beta 2; an unstable hemoglobin causing a mild hemolytic anemia. Hemoglobin. 1989;13:557-66 pubmed..The mutation was found in the proposita and one of her daughters but was most probably absent in her parents. ..
- Inagaki K, Inagaki J, Dumoulin A, Padovan J, Chait B, Popowicz A, et al. Expression and properties of recombinant HbA2 (alpha2delta2) and hybrids containing delta-beta sequences. J Protein Chem. 2000;19:649-62 pubmed..The construct expressing HbA2 contains only alpha and delta genes so that the extensive purification required to isolate natural HbA2 is ..
- Rujan I, Russu I. Allosteric effects of chloride ions at the intradimeric alpha1beta1 and alpha2beta2 interfaces of human hemoglobin. Proteins. 2002;49:413-9 pubmed..Therefore, the ligand-induced changes at the Hisalpha103(G10) sites are modulated by the allosteric effect of chloride ions on hemoglobin. ..
- Shih M, Peng C, Chang J. Association of Hb G-Chinese [alpha30(B11)Glu --> Gln] with alpha-thalassemia-1 of the Thai type in a Taiwanese family. Hemoglobin. 2003;27:41-4 pubmed
- Haider M, Adekile A. Alpha-2-globin gene polyadenylation (AATAAA-->AATAAG) mutation in hemoglobin H disease among Kuwaitis. Med Princ Pract. 2005;14 Suppl 1:73-6 pubmed..Hb H disease involving the poly A mutation is a mild thal intermedia phenotype among Kuwaitis. There are no serious complications and there is no need for regular blood transfusion. ..
- Sekhavat L, Davar R, Hosseinidezoki S. Relationship between maternal hemoglobin concentration and neonatal birth weight. Hematology. 2011;16:373-6 pubmed publisher..Maternal anemia was significantly associated with effect on birth weight. Also Hb > 13 g/dl was also associated with an increased risk of low birth weight. ..
- Lou J, Li D, Zhang Y, He Y, Sun M, Ye W, et al. Delineation of the molecular basis of borderline hemoglobin A2 in Chinese individuals. Blood Cells Mol Dis. 2014;53:261-4 pubmed publisher..The molecular characterization of borderline Hb A2 in Chinese individuals is significantly different than in Italian population. Our data is conductive to provision of genetic counseling for Chinese individuals with borderline Hb A2. ..
- Sahli C, Gritli S, Dabboubi R, Omar S, Siala H, Kaabachi N, et al. Fortuitous description of haemoglobin A2' [Î´16 (A13) Glyâ†’Arg (GGCâ†’CGC)] in a Tunisian family: study of the molecular defect and its origin. Ann Biol Clin (Paris). 2015;73:353-8 pubmed publisher..Few studies focused on Î´-globin gene variations responsible for Î´-thalassemia or HbA2 variants...
- Moafi A, Vallian R, Vallian S, Rahgozar S, Torfenajad M, Moafi H. The pros and cons of the fourth revision of thalassaemia screening programme in Iran. J Med Screen. 2017;24:1-5 pubmed publisher..cases with lower than normal RBC indices (mean corpuscular volume <80?fl and mean corpuscular Hb <27?pg) and HbA2 (<3.5%) were diagnosed with thalassaemia minor...
- Ahern E, Ahern V, Holder W, Palomino E, Serjeant G, Serjeant B, et al. Haemoglobin Spanish Town alpha27 Glu replaced by Val (B8). Biochim Biophys Acta. 1976;427:530-5 pubmed
- Silva M, Rogers P, Arnone A. A third quaternary structure of human hemoglobin A at 1.7-A resolution. J Biol Chem. 1992;267:17248-56 pubmed
- Liebhaber S, Coleman M, Adams J, Cash F, Steinberg M. Molecular basis for nondeletion alpha-thalassemia in American blacks. Alpha 2(116GAG----UAG). J Clin Invest. 1987;80:154-9 pubmed..The defined alpha-globin genotype of the proposita (-alpha/alpha 116UAG alpha) and the positioning of this nonsense mutation at the alpha 2-globin gene locus are fully consistent with the observed alpha-thalassemia phenotype. ..
- Regtuijt M, Harteveld C, Van Delft P, Akkermans N, Giordano P. Hb Suan-Dok [alpha109(G16)Leu-->Arg; CTG-->CGG (alpha2)] described in a patient of African ancestry. Hemoglobin. 2004;28:173-6 pubmed..In contrast with earlier reports we were unable to identify any native Hb fraction. The balanced beta/alpha ratio indicated that alpha2-Suan-Dok is formed but does not form tetramer formation unless alpha-thal is present. ..
- Sarkar A, Mukhopadhyay C, Chandra S, Banerjee S, Das M, Dasgupta U. Co-inheritance of the Hb Sun Prairie mutation with a point mutation at 5'-UTR in the eastern Indian population. Br J Haematol. 2005;129:282-6 pubmed..Depression of translation because of the second mutation of a conserved base in the 5'-UTR might explain the observed clinical severity. ..
- Farashi S, Vakili S, Garous N, Ashki M, Imanian H, Azarkeivan A, et al. Mutations on the Î±2-Globin Gene That May Trigger Î±(+)-Thalassemia. Hemoglobin. 2015;39:398-402 pubmed publisher..In the last decade, numerous Î±-globin mutations have been observed leading to an Î±-thal phenotype and these studies have been considered to be important as discussed here. ..
- Dajnowicz S, Seaver S, Hanson B, Fisher S, Langan P, Kovalevsky A, et al. Visualizing the Bohr effect in hemoglobin: neutron structure of equine cyanomethemoglobin in the R state and comparison with human deoxyhemoglobin in the T state. Acta Crystallogr D Struct Biol. 2016;72:892-903 pubmed publisher..The comparison of regions of stability in the two states allows a visualization of the conservation of fold energy necessary for ligand binding and release. ..
- Parrow N, Tu H, Nichols J, Violet P, Pittman C, Fitzhugh C, et al. Measurements of red cell deformability and hydration reflect HbF and HbA2 in blood from patients with sickle cell anemia. Blood Cells Mol Dis. 2017;65:41-50 pubmed publisher..HbA2 may be relatively ineffective in improving these characteristics or cellular hydration at the levels found in this patient cohort. ..
- Kazanetz E, Leonova J, Wilson J, McMillan S, Walbrecht M, de Pablos Gallego J, et al. Hb Anamosa or alpha 2(111)(G18)Ala-->Val beta 2 (alpha 2 mutation) and Hb Mulhacen or alpha 2(123)(H6)Ala-->Ser beta 2 (alpha 1 mutation) are two silent, stable variants detected by sequencing of amplified DNA. Hemoglobin. 1995;19:1-6 pubmed..The two variants are stable. Sequencing of the amplified alpha 2- and alpha 1-globin genes greatly facilitated the characterization of the two variants. ..
- Sutherland Smith A, Baker H, Hofmann O, Brittain T, Baker E. Crystal structure of a human embryonic haemoglobin: the carbonmonoxy form of gower II (alpha2 epsilon2) haemoglobin at 2.9 A resolution. J Mol Biol. 1998;280:475-84 pubmed..The reduced chloride effect is thought to be the primary cause of the higher affinity of this embryonic hemoglobin in comparison to the adult molecule. ..
- Harrington D, Adachi K, Royer W. Crystal structure of deoxy-human hemoglobin beta6 Glu --> Trp. Implications for the structure and formation of the sickle cell fiber. J Biol Chem. 1998;273:32690-6 pubmed
- Lacan P, Francina A, Souillet G, Aubry M, Couprie N, Dementhon L, et al. Two new alpha chain variants: Hb Boghé [alpha58(E7)His-->Gln, alpha2], a variant on the distal histidine, and Hb CHarolles [alpha103(G10)His-Tyr, alpha1]. Hemoglobin. 1999;23:345-52 pubmed..Oxygen equilibrium curves measured on whole blood with Hb Boghé were normal. DNA sequencing revealed the association of Hb Charolles with a common mutation of the alpha2 polyadenylation site: AATAAA-->AATAAG. ..
- de la Fuente Gonzalo F, Baiget M, Badell I, Ricard P, Vinuesa L, Martínez Nieto J, et al. Study of three families with Hb Agrinio [?29(B10)Leu?Pro, CTG>CCG (?2)] in the Spanish population: three homozygous cases. Hemoglobin. 2012;36:526-32 pubmed publisher..Some of these are as unstable as Hb Agrinio and their presence is difficult to detect except by DNA sequencing. ..
- Waye J, Eng B. Diagnostic testing for ?-globin gene disorders in a heterogeneous North American population. Int J Lab Hematol. 2013;35:306-13 pubmed publisher..Here we provide an overview of the diagnostic methods available and our experience using these assays in a reference laboratory serving a heterogeneous at-risk population. ..
- Kunwandee J, Srivorakun H, Fucharoen G, Sanchaisuriya K, Fucharoen S. ARKRAY ADAMS A1c HA-8180T Analyzer for Diagnosis of Thalassemia and Hemoglobinopathies Common in Southeast Asia. Lab Med. 2014;45:e112-21 pubmed publisher..Also, to confirm the reference range for HbA2, we obtained an additional 48 specimens from healthy individuals...
- George E, Teh L, Tan J, Lai M, Wong L. HbA2 levels in ?-thalassaemia carriers with the Filipino ?0-deletion: are the levels higher than what is found with non-deletional forms of ?0-thalassaemia?. Pathology. 2013;45:62-5 pubmed publisherClassical carriers of ?-thalassaemia are identified by a raised HbA2 level. Earlier studies indicated that the Filipino ?-deletion has high raised HbA2 levels...
- Caruso D, Da Riva L, Giavarini F, Galli G, Brambilla S, Luraschi P, et al. A hemoglobin variant found during glycohemoglobin measurement, identified as Hb Toulon [alpha77(EF6)Pro-->His] by tandem mass spectrometry. Hemoglobin. 2002;26:197-9 pubmed
- Gilad O, Dgany O, Noy Lotan S, Krasnov T, Elitzur S, Pissard S, et al. Characterization of two unique Î±-globin gene cluster deletions causing Î±-thalassemia in Israeli Arabs. Hemoglobin. 2014;38:319-24 pubmed publisher..Further analysis of more patients with Î±-thal deletions will have implications for genetic counseling and appropriate therapy. ..
- Borgio J, AbdulAzeez S, Almandil N, Naserullah Z, Al Jarrash S, Al Suliman A, et al. The ??3.7 deletion in ??globin genes increases the concentration of fetal hemoglobin and hemoglobin A2 in a Saudi Arabian population. Mol Med Rep. 2017;: pubmed publisher..in order to investigate the implications of the ??globin gene deletion on fetal hemoglobin (HbF) and hemoglobin ?2 (HbA2) concentrations in patients with transfusion?dependent ??thalassemia...