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
Species: human
Products:     HBA2

Top Publications

  1. Liebhaber S, Goossens M, Kan Y. Cloning and complete nucleotide sequence of human 5'-alpha-globin gene. Proc Natl Acad Sci U S A. 1980;77:7054-8 pubmed
    ..Highly conserved regions are identified in the 5'-flanking region, intron-exon junctions, and 3' noncoding regions that may have functional significance. ..
  2. Harteveld C, Wijermans P, Van Delft P, Rasp E, Haak H, Giordano P. An alpha-thalassemia phenotype in a Dutch Hindustani, caused by a new point mutation that creates an alternative splice donor site in the first exon of the alpha2-globin gene. Hemoglobin. 2004;28:255-9 pubmed
    ..The codon 22 (GGC-->GGT) transition described in this report is the first mutation creating a splice donor site in one of the alpha-globin genes. ..
  3. Richter F, Meurers B, Zhu C, Medvedeva V, Chesselet M. Neurons express hemoglobin alpha- and beta-chains in rat and human brains. J Comp Neurol. 2009;515:538-47 pubmed publisher
    ..Thus, hemoglobin chains are expressed in neurons and are regulated by treatments that affect mitochondria, opening up the possibility that they may play a novel role in neuronal function and response to injury. ..
  4. Giordano P, Cnossen M, Joosten A, Jansen C, Hakvoort T, Bakker Verweij M, et al. Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening. Hemoglobin. 2010;34:354-65 pubmed publisher
    ..Screening and characterization of the mutations, phenotype/genotype correlation and the issue of reporting newborn carriers of alpha-thalassemia (alpha-thal) are discussed. ..
  5. Nainggolan I, Harahap A, Ambarwati D, Liliani R, Megawati D, Swastika M, et al. Interaction of Hb adana (HBA2: c.179G>A) with deletional and nondeletional ?(+)-thalassemia mutations: diverse hematological and clinical features. Hemoglobin. 2013;37:297-305 pubmed publisher
    ..Thus, accurate diagnosis of ?-thal disorders is not only important for future management of these patients but also for providing proper genetic counseling to the family. ..
  6. Noguera N, Gonzalez F, Dávoli R, Milani A, Villegas A. A novel splice acceptor site mutation of the alpha2-globin gene causing alpha-thalassemia. Hemoglobin. 2001;25:311-5 pubmed
    ..A novel nondeletional alpha-thalassemia mutation that affects RNA processing, changing the alpha2 IVS-II-142 splice acceptor consensus sequence from AG to AA, has been detected in an Argentinian patient with Hb H disease and her daughter. ..
  7. Saleh Gohari N, Khosravi Mashizi A. Spectrum of ?-globin gene mutations in the Kerman Province of Iran. Hemoglobin. 2010;34:451-60 pubmed publisher
    ..7 and 4.2%, respectively. We found that the spectrum of ?-globin gene mutation in Kerman Province was in accordance with what was previously reported in other Iranian provinces where malaria has selected these protective traits. ..
  8. Zhao Y, Xu X. Alpha2(CD31 AGG-->AAG, Arg-->Lys) causing non-deletional alpha-thalassemia in a Chinese family with HbH disease. Haematologica. 2001;86:541-2 pubmed
  9. Viprakasit V, Ekwattanakit S, Chalaow N, Riolueang S, Wijit S, Tanyut P, et al. Clinical presentation and molecular identification of four uncommon alpha globin variants in Thailand. Initiation codon mutation of ?2-globin Gene (HBA2:c.1delA), donor splice site mutation of ?1-globin gene (IVSI-1, HBA1:c.95 + 1G>A), hemoglobin . Acta Haematol. 2014;131:88-94 pubmed publisher
    ..describe four rare nondeletional ?-thalassemia mutations in Thai individuals, including initiation codon mutation (HBA2:c.1delA), donor splice site mutation (IVSI-1, HBA1:c.95 + 1G>A), Hb Queens Park (HBA1:c...

More Information

Publications257 found, 100 shown here

  1. Yang C, French A, Goh P, Pagnamenta A, Mettananda S, Taylor J, et al. Human induced pluripotent stem cell derived erythroblasts can undergo definitive erythropoiesis and co-express gamma and beta globins. Br J Haematol. 2014;166:435-48 pubmed publisher
    ..we were able to demonstrate by single cell analysis (flow cytometry), that hiPSC-derived erythroblasts express alpha globin as previously described, and that a sub-population of these erythroblasts also express haemoglobin F (HbF), ..
  2. Turner A, Sasse J, Varadi A. Development and validation of a high throughput, closed tube method for the determination of haemoglobin alpha gene (HBA1 and HBA2) numbers by gene ratio assay copy enumeration-PCR (GRACE-PCR). BMC Med Genet. 2015;16:115 pubmed publisher
    ..GRACE) PCR method was developed by simultaneous amplification of targets in the α-globin genes (HBA1 and HBA2) and the chloride channel voltage sensitive 7 (CLCN7) reference gene...
  3. Keller T, Butcher J, Broseghini Filho G, Marziano C, DeLalio L, Rogers S, et al. Modulating Vascular Hemodynamics With an Alpha Globin Mimetic Peptide (Hb?X). Hypertension. 2016;68:1494-1503 pubmed
    ..In endothelial cells, the alpha chain of hemoglobin (hereafter, alpha globin) and endothelial NO synthase form a macromolecular complex, providing a sink for NO directly adjacent to the ..
  4. Altinoz M, Ince B. Hemoglobins emerging roles in mental disorders. Metabolical, genetical and immunological aspects. Int J Dev Neurosci. 2017;61:73-85 pubmed publisher
    ..We demonstrated a protective role of minor HbA2 against post-partum episodes in BD and association of higher minor HbF (fetal hemoglobin) levels with family ..
  5. Plaseska D, Gu L, Wilson J, Codrington J, Huisman T, Dash S. Hb Sun Prairie or alpha(2)130(H13)Ala----Pro beta 2; second observation in an Indian adult. Hemoglobin. 1990;14:491-7 pubmed
  6. Balakrishnan G, Zhao X, Podstawska E, Proniewicz L, Kincaid J, Spiro T. Subunit-selective interrogation of CO recombination in carbonmonoxy hemoglobin by isotope-edited time-resolved resonance Raman spectroscopy. Biochemistry. 2009;48:3120-6 pubmed publisher
  7. Bahar A, Kashi Z, Sohrab M, Kosaryan M, Janbabai G. Relationship between beta-globin gene carrier state and insulin resistance. J Diabetes Metab Disord. 2012;11:22 pubmed publisher
    ..ones and 82 patients with beta thalassemia minor (microcytosis (MCV <80 fl) and hypochromia (MCH <25 pg) and HbA2 ? 3.5% using HPLC)...
  8. Lederer C, Pavlou E, Makariou C, Hadjilambi G, Andreou N, Hadjigavriel M, et al. Hb Famagusta--analysis of a novel δ-globin chain variant [HBD:c.60C>A] in four families with diverse globin genotypes. Ann Hematol. 2014;93:1625-7 pubmed publisher
  9. Kimura E, Oliveira D, Jorge S, Ribeiro D, Zaccariotto T, Santos M, et al. Investigating alpha-globin structural variants: a retrospective review of 135,000 Brazilian individuals. Rev Bras Hematol Hemoter. 2015;37:103-8 pubmed publisher
    ..This diversity highlights the importance of programs for diagnosing hemoglobinopathies and preventing combinations that may lead to important clinical manifestations in multiethnic populations. ..
  10. Liang Y, Peng Q, Li M, Li S, Li W, Lu X. A Novel ?-Thalassemia Nonsense Mutation on the ?2-Globin Gene: HBA2: c.184A>T. Hemoglobin. 2017;:1-2 pubmed publisher
    We report a novel mutation on the ?2-globin gene, HBA2: c.184A>T, detected in a Chinese proband. This mutation resulted in a Lys?Term substitution at position 62 of the ?2-globin gene, causing a premature termination of translation...
  11. Macharia A, Uyoga S, Ndila C, Nyutu G, Makale J, Tendwa M, et al. The population dynamics of haemoglobins A, A2, F and S in the context of the haemoglobinopathies HbS and α+thalassaemia in Kenyan infants. Haematologica. 2018;: pubmed publisher
    ..BioRad Variant ClassicTM HPLC method to document the production patterns of the common haemoglobin variants HbA, HbA2, HbF and HbS, stratified by a+thalassaemia genotype, among 15,301 infants recruited to a study on the Coast of ..
  12. Weiss I, Cash F, Coleman M, Pressley A, Adams J, Sanguansermsri T, et al. Molecular basis for alpha-thalassemia associated with the structural mutant hemoglobin Suan-Dok (alpha 2 109leu----arg). Blood. 1990;76:2630-6 pubmed
    ..Although in vitro translation of a synthetic alpha 2SD-globin mRNA generated levels of alpha globin equivalent to alpha 2A-globin mRNA at early time points, the ratio of alpha SD to alpha A globin decreased ..
  13. Gohari L, Petrou M, Felekis X, Christopoulos G, Kleanthous M. Identification of alpha-thalassemia mutations in Iranian individuals with abnormal hematological indices and normal Hb A2. Hemoglobin. 2003;27:129-32 pubmed
  14. Gužvić M, Braun B, Ganzer R, Burger M, Nerlich M, Winkler S, et al. Combined genome and transcriptome analysis of single disseminated cancer cells from bone marrow of prostate cancer patients reveals unexpected transcriptomes. Cancer Res. 2014;74:7383-94 pubmed publisher
    ..KRT19, KRT14, KRT6a, KRT5, KLK3 (PSA), MAGEA2, MAGEA4, PTPRC (CD45), CD33, CD34, CD19, GYPC, SCL4A1 (band 3), and HBA2. Using these transcripts, we found it impossible to reliably identify true DCCs...
  15. Tain Y, Hsu C, Chan J, Huang L. Renal Transcriptome Analysis of Programmed Hypertension Induced by Maternal Nutritional Insults. Int J Mol Sci. 2015;16:17826-37 pubmed publisher
    ..DEGs) that are related to the regulation of blood pressure included Adrb3, Alb, Apoe, Calca, Kng1, Adm2, Guca2b, Hba2, Hba-a2, and Ppara...
  16. Li Y, He H, Yang L, Li X, Li D, Luo S. Therapeutic effect of Colla corii asini on improving anemia and hemoglobin compositions in pregnant women with thalassemia. Int J Hematol. 2016;104:559-565 pubmed
    ..SF) and three types of Hb components [adult hemoglobin (HbA), fetal hemoglobin (HbF), minor adult hemoglobin (HbA2)] were measured before and after treatment. Treatment with CCA led to a significant increase of Hb...
  17. Brimhall B, Jones R, Schneider R, Hosty T, Tomlin G, Atkins R. Two new hemoglobins. Hemoglobin Alabama (beta39(C5)Gln leads to Lys) and hemoglobin Montgomery (alpha 48(CD 6) Leu leads to Arg). Biochim Biophys Acta. 1975;379:28-32 pubmed
    ..They are hemoglobin Alabama (beta 39(C 5)Gln leads to Lys) and hemoglobin Montgomery (alpha 48(CD 6) Leu leads to Arg). No harmful symptoms have been attributed to the presence of either hemoglobin. ..
  18. Oron Karni V, Filon D, Rund D, Oppenheim A. A novel mechanism generating short deletion/insertions following slippage is suggested by a mutation in the human alpha2-globin gene. Hum Mol Genet. 1997;6:881-5 pubmed
    ..Our model explains all six mutations, suggesting that rearrangement of a mismatch loop or bubble during DNA replication may be not uncommon. ..
  19. Paleari R, Paglietti E, Mosca A, Mortarino M, Maccioni L, Satta S, et al. Posttranslational deamidation of proteins: the case of hemoglobin J Sardegna [alpha50(CD8)His-->Asn-->Asp]. Clin Chem. 1999;45:21-8 pubmed
    ..These findings point out the importance of the complete characterization of variant proteins by use of both DNA and protein analyses. ..
  20. He Z, Russell J. Expression, purification, and characterization of human hemoglobins Gower-1 (zeta(2)epsilon(2)), Gower-2 (alpha(2)epsilon(2)), and Portland-2 (zeta(2)beta(2)) assembled in complex transgenic-knockout mice. Blood. 2001;97:1099-105 pubmed
    ..In addition, the unexpected properties of Hb Gower-1 call into question a common hypothesis for its primary role in embryonic development. ..
  21. Huang Y, Lin M, Lin C, Wu J, Zheng L, Yang L. Molecular and clinical characteristics of hemoglobin Ottawa detected in a Chinese population. Mol Med Rep. 2011;4:581-3 pubmed publisher
  22. Qadah T, Finlayson J, Ghassemifar R. In vitro characterization of the α-thalassemia point mutation HBA2:c.95+1G>A [IVS-I-1(G>A) (α2)]. Hemoglobin. 2012;36:38-46 pubmed publisher
    ..The mutation at the splice donor site of the first intervening sequence [IVS-I-1 (G>A)] of the α2-globin gene, HBA2:c...
  23. Bayat N, Farashi S, Hafezi Nejad N, Faramarzi N, Ashki M, Vakili S, et al. Novel mutations responsible for α-thalassemia in Iranian families. Hemoglobin. 2013;37:148-59 pubmed publisher
    ..Moreover, considerations of its role in combination with other mutations, and the possibility of causing Hb H (β4) are yet to be studied. ..
  24. 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 (16 %) SS disease but fetal hemoglobin (HbF) levels were markedly ..
  25. 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. ..
  26. 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 ..
  27. 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. ..
  28. 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
  29. 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. ..
  30. 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 ..
  31. 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 publisher
    We report a novel mutation on the ?2-globin gene, Hb Nanning (HBA2:c.369_370delinsGA) detected in a Chinese family...
  32. 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
  33. Giardina B, Messana I, Scatena R, Castagnola M. The multiple functions of hemoglobin. Crit Rev Biochem Mol Biol. 1995;30:165-96 pubmed
  34. 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). ..
  35. Pang W, Weng X, Ye X, Long J, Wu S, Sun L, et al. Identification of a variation in the IVSII of α2 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 α121 and α212...
  36. 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. ..
  37. 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. ..
  38. 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. ..
  39. 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
  40. 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...
  41. 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. ..
  42. Verhovsek M, So C, O Shea T, Gibney G, Ma E, Steinberg M, et al. Is HbA2 level a reliable diagnostic measurement for ?-thalassemia trait in people with iron deficiency?. Am J Hematol. 2012;87:114-6 pubmed publisher
  43. Chandrashekar V. Minor hemoglobins other than A2 in iron deficiency. Lab Med. 2014;45:331-5; quiz e158 pubmed publisher
    To determine any difference in levels of minor hemoglobins, other than hemoglobin A2 (HbA2), in patients with iron deficiency...
  44. 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 α-thalassemia intermedia, when in trans to a single α-globin gene deletion. Hemoglobin. 2015;39:55-7 pubmed publisher
    ..7 kb deletion in the α-globin gene cluster in trans to a novel in-frame 6 bp deletion in the HBA2 gene...
  45. 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. 2018;56:602-608 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 β-thalassemia trait, HbE trait, β-thalassemia/HbE disease ..
  46. 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. ..
  47. 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
  48. 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. ..
  49. Shaanan B. Structure of human oxyhaemoglobin at 2.1 A resolution. J Mol Biol. 1983;171:31-59 pubmed
  50. Kapralov A, Vlasova I, Feng W, Maeda A, Walson K, Tyurin V, et al. Peroxidase activity of hemoglobin-haptoglobin complexes: covalent aggregation and oxidative stress in plasma and macrophages. J Biol Chem. 2009;284:30395-407 pubmed publisher
  51. 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. ..
  52. 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...
  53. 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. ..
  54. 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...
  55. 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...
  56. 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. ..
  57. 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® ...
  58. 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%)...
  59. 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
  60. 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 pubmed
    The 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...
  61. 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. ..
  62. 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
  63. 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. ..
  64. 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. ..
  65. 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. ..
  66. 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). ..
  67. 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). ..
  68. Grosso M, Palumbo I, Morelli E, Puzone S, Sessa R, Izzo P. Defective mRNA levels are responsible for a beta-thalassemia phenotype associated with Hb Federico II, a novel hemoglobin variant [beta-106 (G8) Leu->Val]. Haematologica. 2008;93:1096-8 pubmed publisher
  69. 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...
  70. 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. ..
  71. Nagatomo S, Saito K, Yamamoto K, Ogura T, Kitagawa T, Nagai M. Heterogeneity between Two ? Subunits of ?2?2 Human Hemoglobin and O2 Binding Properties: Raman, 1H Nuclear Magnetic Resonance, and Terahertz Spectra. Biochemistry. 2017;56:6125-6136 pubmed publisher
  72. 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...
  73. 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. ..
  74. 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...
  75. Clegg J, Weatherall D, Milner P. Haemoglobin Constant Spring--a chain termination mutant?. Nature. 1971;234:337-40 pubmed
  76. 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. ..
  77. 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. ..
  78. 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 pubmed
    b>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...
  79. 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. ..
  80. Unal S, Gumruk F. The Hematological and Molecular Spectrum of α-Thalassemias in Turkey: The Hacettepe Experience. Turk J Haematol. 2015;32:136-43 pubmed publisher
    ..Sonuç: Çalışmamız Hb H hastalığının ülkemizde nadir olmadığına ve genotipinin heterojen olduğuna işaret etmektedir. ..
  81. 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
  82. 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. ..
  83. 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 ..
  84. 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. ..
  85. 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
  86. 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. ..
  87. 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. ..
  88. 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. ..