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. Basu A, Chakrabarti A. Hemoglobin interacting proteins and implications of spectrin hemoglobin interaction. J Proteomics. 2015;128:469-75 pubmed publisher
    ..Taken together our results could provide insight into a protein network evolved around hemoglobin molecule inside erythrocyte that may add a new perspective in understanding the hemoglobin function and homeostasis. ..
  9. 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...

More Information

Publications287 found, 100 shown here

  1. Theodorou A, Phylactides M, Forti L, Cramarossa M, Spyrou P, Gambari R, et al. The investigation of resveratrol and analogs as potential inducers of fetal hemoglobin. Blood Cells Mol Dis. 2016;58:6-12 pubmed publisher
    ..gene expression is a promising therapeutic approach as it reduces this imbalance by combining with the excess alpha globin chains and producing fetal hemoglobin (HbF)...
  2. Miele A, Santanché S, Travaglini Allocatelli C, Vallone B, Brunori M, Bellelli A. Modulation of ligand binding in engineered human hemoglobin distal pocket. J Mol Biol. 1999;290:515-24 pubmed
    ..A structural interpretation of our data is presented based on the 3D structure of deoxy HbalphabetaYQ determined by crystallography at 1.8 A resolution. ..
  3. Voon H, Vadolas J. Controlling alpha-globin: a review of alpha-globin expression and its impact on beta-thalassemia. Haematologica. 2008;93:1868-76 pubmed publisher
    ..The exceedingly well-characterized process of alpha-globin expression elegantly illustrates the complex interaction of factors which are required to balance necessary high expression against the negative impacts of overexpression. ..
  4. Huo Y, McConnell S, Liu S, Yang R, Zhang T, Sun C, et al. Humanized Mouse Model of Cooley's Anemia. J Biol Chem. 2009;284:4889-96 pubmed publisher
    ..When bred with human alpha globin knockin mice, homozygous CA mice survive solely upon human fetal hemoglobin at birth...
  5. Mehta P, Upadhye D, Sawant P, Gorivale M, Nadkarni A, Shanmukhaiah C, et al. Diverse phenotypes and transfusion requirements due to interaction of β-thalassemias with triplicated α-globin genes. Ann Hematol. 2015;94:1953-8 pubmed publisher
  6. Han W, Huang L, Li Y, Han Y, Li D, An B, et al. Reference intervals for HbA2 and HbF and cut-off value of HbA2 for β-thalassemia carrier screening in a Guizhou population of reproductive age. Clin Biochem. 2019;65:24-28 pubmed publisher
    The aims of this study were to establish the reference intervals for HbA2 and HbF in a Guizhou population of reproductive age, and to determine the cut-off value of HbA2 for β-thalassemia carrier screening...
  7. Fermi G, Perutz M, Shaanan B, Fourme R. The crystal structure of human deoxyhaemoglobin at 1.74 A resolution. J Mol Biol. 1984;175:159-74 pubmed
    ..The independence of these parameters from restraints imposed on the model was verified by unrestrained refinement of the entire molecule starting from a structure with modified haem geometry. ..
  8. Wongkummool W, Maneepitasut W, Munkongdee T, Tong Ngam P, Tangprasittipap A, Svasti S, et al. Derivation of the human induced pluripotent stem cell line MUi017-A from a patient with homozygous Hemoglobin Constant Spring. Stem Cell Res. 2017;20:84-87 pubmed publisher
    Hemoglobin Constant Spring (HbCS, HBA2: c.427T>C) is a common nondeletional α-thalassemia resulting from a nucleotide substitution at the termination codon of the HBA2 gene...
  9. Ropero P, Villegas A, Nieto J, Gonzalez F, Martinez R. Novel nonsense mutation in the α1-globin gene [HBA1:C.49A>T] is responsible for non-deletion α-thalassemia. Clin Biochem. 2019;63:139-142 pubmed publisher
    ..Molecular characterization was performed by automatic sequencing of alpha globin genes. The propositus presented no abnormal hemoglobins and Hb A2 and Hb F levels were within normal limits...
  10. Viprakasit V, Tanphaichitr V, Pung Amritt P, Petrarat S, Suwantol L, Fisher C, et al. Clinical phenotypes and molecular characterization of Hb H-Paksé disease. Haematologica. 2002;87:117-25 pubmed
    ..Analysis of mismatched-PCR-RFLP, described here, was shown to provide an unequivocal diagnosis and will be applicable in population screening programs. ..
  11. Ang S, Thevarajah T, Woi P, Alias Y, Khor S. A lateral flow immunosensor for direct, sensitive, and highly selective detection of hemoglobin A1c in whole blood. J Chromatogr B Analyt Technol Biomed Life Sci. 2016;1015-1016:157-165 pubmed publisher
    ..immunosensor was verified to be highly selective for detection of HbA1c against HbA0, glycated species of HbA0, and HbA2. The limit of detection was found to be 42.5 μg mL(-1) (1...
  12. Renoux C, Connes P, Nader E, Skinner S, Faës C, Petras M, et al. Alpha-thalassaemia promotes frequent vaso-occlusive crises in children with sickle cell anaemia through haemorheological changes. Pediatr Blood Cancer. 2017;64: pubmed publisher
    ..Our results demonstrate that alpha-thalassaemia is associated with higher risk for VOC events in children with SCA, which may be due in part to its effects on RBC deformability and aggregation. ..
  13. Origa R, Barella S, Paglietti M, Anni F, Danjou F, Denotti A, et al. Hematological phenotypes in children according to the α-globin genotypes. Blood Cells Mol Dis. 2018;69:102-106 pubmed publisher
    ..Of them, 352 with HbA2≤3...
  14. Rodrigo R, Allen A, Manampreri A, Perera L, Fisher C, Allen S, et al. Haemoglobin variants, iron status and anaemia in Sri Lankan adolescents with low red cell indices: A cross sectional survey. Blood Cells Mol Dis. 2018;71:11-15 pubmed publisher
  15. Michelson A, Orkin S. Boundaries of gene conversion within the duplicated human alpha-globin genes. Concerted evolution by segmental recombination. J Biol Chem. 1983;258:15245-54 pubmed
    ..Restriction mapping of additional alpha-thal-2 genes and of the reciprocal triplicated alpha-gene complex was consistent with this hypothesis. ..
  16. Datta P, Chakrabarty S, Chakrabarty A, Chakrabarti A. Membrane interactions of hemoglobin variants, HbA, HbE, HbF and globin subunits of HbA: effects of aminophospholipids and cholesterol. Biochim Biophys Acta. 2008;1778:1-9 pubmed
  17. González Borrachero M, de la Fuente Gonzalo F, González F, Nieto J, Villegas A, Ropero P. [Delta⁰-thalassemia by insertion of 27 base pairs in δ-globin gene with decreased hemoglobin A₂ levels]. Med Clin (Barc). 2015;144:312-6 pubmed publisher
    ..19min. This variant Hb is called Hb Watts [α2 74(EF3)Asp->0 or α2 75(EF4)Asp->0; HBA2:c.226_228delGAC]...
  18. AbdulAzeez S, Borgio J. In-Silico Computing of the Most Deleterious nsSNPs in HBA1 Gene. PLoS ONE. 2016;11:e0147702 pubmed publisher
    ..is a genetic disorder caused by the substitution of single amino acid or large deletions in the HBA1 and/or HBA2 genes...
  19. Satta S, Paglietti M, Sollaino M, Barella S, Moi P, Desogus M, et al. Changes in HbA2 and HbF in alpha thalassemia carriers with KLF1 mutation. Blood Cells Mol Dis. 2017;64:30-32 pubmed publisher
    ..Their haematological phenotype is characterized by reduced MCV and/or MCH with normal or slightly reduced HbA2 levels and normal HbF...
  20. Sanguansermsri T, Matragoon S, Changloah L, Flatz G. Hemoglobin Suan-Dok (alpha 2 109 (G16) Leu replaced by Arg beta 2): an unstable variant associated with alpha-thalassemia. Hemoglobin. 1979;3:161-74 pubmed
    ..This hemoglobin mutant has not been described before and is named Hemoglobin Suan-Dok. ..
  21. Al Allawi N, Badi A, Imanian H, Nikzat N, Jubrael J, Najmabadi H. Molecular characterization of alpha-thalassemia in the Dohuk region of Iraq. Hemoglobin. 2009;33:37-44 pubmed publisher
    ..All nine Hb H cases carried the -alpha(3.7)/- -(MED-I) genotype. Such findings are rather different from those in other eastern Mediterranean populations, particularly with relevance to an Hb H molecular basis. ..
  22. Harteveld C, Oosterhuis W, Schoenmakers C, Ananta H, Kos S, Bakker Verweij M, et al. alpha-thalassaemia masked by beta gene defects and a new polyadenylation site mutation on the alpha2-globin gene. Eur J Haematol. 2010;84:354-8 pubmed publisher
    ..Diagnostic methods, genotype/phenotype correlations and the chance of overlooking these combinations during risk assessment in a multiethnic society are discussed. ..
  23. 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
  24. Marti H, PIK C, Mosimann P. [A NEW HEMOGLOBIN I VARIANT: HBI-INTERLAKEN]. Acta Haematol. 1964;32:9-16 pubmed
  25. Waneesorn J, Panyasai S, Kongthai K, Singboottra P, Pornprasert S. Comparison between capillary electrophoresis and high performance liquid chromatography for detection and quantification of Hb constant spring [Hb CS; α142, Term→Gln (TAA>CAA IN α2)]. Hemoglobin. 2011;35:338-45 pubmed publisher
    ..Therefore, the CE method was superior to the HPLC method for detecting Hb CS. Furthermore, the level of Hb CS quantified by CE proved useful in screening heterozygotes and homozygotes with Hb CS as well as Hb H-CS disease. ..
  26. Akbari M, Hamid M. Identification of α-globin chain variants: a report from Iran. Arch Iran Med. 2012;15:564-7 pubmed publisher
    ..The knowledge of the spectrum of α-globin variants present in the Iranian population is essential for the molecular diagnosis and prevention of hemoglobinopathies. ..
  27. 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...
  28. 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), ..
  29. 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...
  30. 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 ..
  31. 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 ..
  32. 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
  33. 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
  34. 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)...
  35. 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
  36. 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. ..
  37. 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...
  38. 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 ..
  39. 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 ..
  40. 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
  41. 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...
  42. 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...
  43. 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...
  44. 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. ..
  45. 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. ..
  46. 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. ..
  47. 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. ..
  48. 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
  49. 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...
  50. 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. ..
  51. 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 ..
  52. 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. ..
  53. 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 ..
  54. 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. ..
  55. 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
  56. 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. ..
  57. 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 ..
  58. 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...
  59. 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
  60. Giardina B, Messana I, Scatena R, Castagnola M. The multiple functions of hemoglobin. Crit Rev Biochem Mol Biol. 1995;30:165-96 pubmed
  61. 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). ..
  62. 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...
  63. 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. ..
  64. 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. ..
  65. 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. ..
  66. 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
  67. 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...
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    ..Globin chain separation by reversed phase liquid chromatography (RP-LC) appears to be the most relevant method. ..
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    ..7 kb deletion in the α-globin gene cluster in trans to a novel in-frame 6 bp deletion in the HBA2 gene...
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    ..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 ..
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    ..This explains the resulting readthrough of the untranslated sequence of the mRNA. ..
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    ..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. ..
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    ..Patients inheriting alpha deletions and point mutations behaved mildly with some exceptions, while patients with alpha triplication had a severe phenotype requiring frequent transfusions. ..
  79. 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...
  80. 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. ..
  81. 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...
  82. 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...
  83. 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. ..
  84. 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® ...