You are using an unsupported browser. Please upgrade your browser to a newer version to get the best experience on Toxin, Toxin Target Database.
NameHemoglobin subunit alpha
Synonyms
  • Alpha-globin
  • Hemoglobin alpha chain
Gene NameHBA1
OrganismHuman
Amino acid sequence
>lcl|BSEQ0036956|Hemoglobin subunit alpha
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHG
KKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTP
AVHASLDKFLASVSTVLTSKYR
Number of residues142
Molecular Weight15257.405
Theoretical pI9.09
GO Classification
Functions
  • oxygen binding
  • oxygen transporter activity
  • iron ion binding
  • heme binding
Processes
  • hydrogen peroxide catabolic process
  • oxygen transport
  • small molecule metabolic process
  • receptor-mediated endocytosis
  • response to hydrogen peroxide
  • oxidation-reduction process
  • positive regulation of cell death
  • protein heterooligomerization
  • bicarbonate transport
Components
  • haptoglobin-hemoglobin complex
  • hemoglobin complex
  • cytosol
  • extracellular exosome
  • cytosolic small ribosomal subunit
  • blood microparticle
  • membrane
  • endocytic vesicle lumen
  • extracellular region
General FunctionOxygen transporter activity
Specific FunctionInvolved in oxygen transport from the lung to the various peripheral tissues.
Pfam Domain Function
Transmembrane RegionsNot Available
GenBank Protein ID386764
UniProtKB IDP69905
UniProtKB Entry NameHBA_HUMAN
Cellular LocationNot Available
Gene sequence
>lcl|BSEQ0010173|Hemoglobin subunit alpha (HBA1)
ATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCG
CACGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGATGTTCCTGTCCTTCCCCACCACC
AAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGC
AAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCG
CTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAG
CTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCT
GCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAA
TACCGTTAA
GenBank Gene IDJ00153
GeneCard IDNot Available
GenAtlas IDHBA1
HGNC IDHGNC:4823
Chromosome Location16
Locus16p13.3
References
  1. Michelson AM, Orkin SH: The 3' untranslated regions of the duplicated human alpha-globin genes are unexpectedly divergent. Cell. 1980 Nov;22(2 Pt 2):371-7. 7448866
  2. Wilson JT, Wilson LB, Reddy VB, Cavallesco C, Ghosh PK, deRiel JK, Forget BG, Weissman SM: Nucleotide sequence of the coding portion of human alpha globin messenger RNA. J Biol Chem. 1980 Apr 10;255(7):2807-15. 6244294
  3. Liebhaber SA, Goossens MJ, Kan YW: Cloning and complete nucleotide sequence of human 5'-alpha-globin gene. Proc Natl Acad Sci U S A. 1980 Dec;77(12):7054-8. 6452630
  4. Orkin SH, Goff SC, Hechtman RL: Mutation in an intervening sequence splice junction in man. Proc Natl Acad Sci U S A. 1981 Aug;78(8):5041-5. 6946451
  5. Zhao Y, Xu X: Alpha2(CD31 AGG-->AAG, Arg-->Lys) causing non-deletional alpha-thalassemia in a Chinese family with HbH disease. Haematologica. 2001 May;86(5):541-2. 11410421
  6. Zhao Y, Zhong M, Liu Z, Xu X: [Rapid detection of the common alpha-thalassemia-2 determinants by PCR assay]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2001 Jun;18(3):216-8. 11402454
  7. De Gobbi M, Viprakasit V, Hughes JR, Fisher C, Buckle VJ, Ayyub H, Gibbons RJ, Vernimmen D, Yoshinaga Y, de Jong P, Cheng JF, Rubin EM, Wood WG, Bowden D, Higgs DR: A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. Science. 2006 May 26;312(5777):1215-7. 16728641
  8. Daniels RJ, Peden JF, Lloyd C, Horsley SW, Clark K, Tufarelli C, Kearney L, Buckle VJ, Doggett NA, Flint J, Higgs DR: Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. Hum Mol Genet. 2001 Feb 15;10(4):339-52. 11157797
  9. Martin J, Han C, Gordon LA, Terry A, Prabhakar S, She X, Xie G, Hellsten U, Chan YM, Altherr M, Couronne O, Aerts A, Bajorek E, Black S, Blumer H, Branscomb E, Brown NC, Bruno WJ, Buckingham JM, Callen DF, Campbell CS, Campbell ML, Campbell EW, Caoile C, Challacombe JF, Chasteen LA, Chertkov O, Chi HC, Christensen M, Clark LM, Cohn JD, Denys M, Detter JC, Dickson M, Dimitrijevic-Bussod M, Escobar J, Fawcett JJ, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Goodwin LA, Grady DL, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Hildebrand CE, Huang W, Israni S, Jett J, Jewett PB, Kadner K, Kimball H, Kobayashi A, Krawczyk MC, Leyba T, Longmire JL, Lopez F, Lou Y, Lowry S, Ludeman T, Manohar CF, Mark GA, McMurray KL, Meincke LJ, Morgan J, Moyzis RK, Mundt MO, Munk AC, Nandkeshwar RD, Pitluck S, Pollard M, Predki P, Parson-Quintana B, Ramirez L, Rash S, Retterer J, Ricke DO, Robinson DL, Rodriguez A, Salamov A, Saunders EH, Scott D, Shough T, Stallings RL, Stalvey M, Sutherland RD, Tapia R, Tesmer JG, Thayer N, Thompson LS, Tice H, Torney DC, Tran-Gyamfi M, Tsai M, Ulanovsky LE, Ustaszewska A, Vo N, White PS, Williams AL, Wills PL, Wu JR, Wu K, Yang J, Dejong P, Bruce D, Doggett NA, Deaven L, Schmutz J, Grimwood J, Richardson P, Rokhsar DS, Eichler EE, Gilna P, Lucas SM, Myers RM, Rubin EM, Pennacchio LA: The sequence and analysis of duplication-rich human chromosome 16. Nature. 2004 Dec 23;432(7020):988-94. 15616553
  10. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. 15489334
  11. BRAUNITZER G, GEHRING-MUELLER R, HILSCHMANN N, HILSE K, HOBOM G, RUDLOFF V, WITTMANN-LIEBOLD B: [The structure of normal adult human hemoglobins]. Hoppe Seylers Z Physiol Chem. 1961 Sep 20;325:283-6. 13872627
  12. HILL RJ, KONIGSBERG W: The structure of human hemoglobin. IV. The chymotryptic digestion of the alpha chain of human hemoglobin. J Biol Chem. 1962 Oct;237:3151-6. 13954546
  13. SCHROEDER WA, SHELTON JR, SHELTON JB, CORMICK J: THE AMINO ACID SEQUENCE OF THE ALPHA CHAIN OF HUMAN FETAL HEMOGLOBIN. Biochemistry. 1963 Nov-Dec;2:1353-7. 14093912
  14. Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. Nat Biotechnol. 2003 May;21(5):566-9. Epub 2003 Mar 31. 12665801
  15. Webber BB, Wilson JB, Gu LH, Huisman TH: Hb Ethiopia or alpha 2(140)(HC2)Tyr----His beta 2. Hemoglobin. 1992;16(5):441-3. 1428951
  16. Shapiro R, McManus MJ, Zalut C, Bunn HF: Sites of nonenzymatic glycosylation of human hemoglobin A. J Biol Chem. 1980 Apr 10;255(7):3120-7. 7358733
  17. Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M: Lysine acetylation targets protein complexes and co-regulates major cellular functions. Science. 2009 Aug 14;325(5942):834-40. doi: 10.1126/science.1175371. Epub 2009 Jul 16. 19608861
  18. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. 21269460
  19. Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J Proteomics. 2014 Jan 16;96:253-62. doi: 10.1016/j.jprot.2013.11.014. Epub 2013 Nov 22. 24275569
  20. Vaca Jacome AS, Rabilloud T, Schaeffer-Reiss C, Rompais M, Ayoub D, Lane L, Bairoch A, Van Dorsselaer A, Carapito C: N-terminome analysis of the human mitochondrial proteome. Proteomics. 2015 Jul;15(14):2519-24. doi: 10.1002/pmic.201400617. Epub 2015 Jun 8. 25944712
  21. Fermi G: Three-dimensional fourier synthesis of human deoxyhaemoglobin at 2-5 A resolution: refinement of the atomic model. J Mol Biol. 1975 Sep 15;97(2):237-56. 1177322
  22. Baldwin JM: The structure of human carbonmonoxy haemoglobin at 2.7 A resolution. J Mol Biol. 1980 Jan 15;136(2):103-28. 7373648
  23. Silva MM, Rogers PH, Arnone A: A third quaternary structure of human hemoglobin A at 1.7-A resolution. J Biol Chem. 1992 Aug 25;267(24):17248-56. 1512262
  24. Sutherland-Smith AJ, Baker HM, Hofmann OM, Brittain T, Baker EN: 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 Jul 17;280(3):475-84. 9665850
  25. Kavanaugh JS, Moo-Penn WF, Arnone A: Accommodation of insertions in helices: the mutation in hemoglobin Catonsville (Pro 37 alpha-Glu-Thr 38 alpha) generates a 3(10)-->alpha bulge. Biochemistry. 1993 Mar 16;32(10):2509-13. 8448109
  26. Botha MC, Beale D, Isaacs WA, Lehmann H: Hemoglobin J Cape Town-alpha-2 92 arginine replaced by glutamine beta-2. Nature. 1966 Nov 19;212(5064):792-5. 5988206
  27. Smith LL, Barton BP, Huisman TH: Subunit dissociation of the unstable hemoglobin Bibba (alpha 2-136Pro(H19)beta 2). J Biol Chem. 1970 Apr 25;245(8):2185-8. 5440849
  28. Nagel RL, Gibson QH, Jenkins T: Ligand binding in hemoglobin J Capetown. J Mol Biol. 1971 Jun 28;58(3):643-50. 5091982
  29. Charache S, Ostertag W, von Ehrenstein G: Clinical studies and physiological properties of Hopkins-2 haemoglobin. Nat New Biol. 1971 Dec 22;234(51):248-51. 5288820
  30. Wiltshire BG, Clark KG, Lorkin PA, Lehmann H: Haemoglobin Denmark Hill 95 (G2) Pro-Ala, a variant with unusual electrophoretic and oxygen-binding properties. Biochim Biophys Acta. 1972 Oct 31;278(3):459-64. 5085669
  31. Wajcman H, Belkhodja O, Labie D: Hb Setif: G1 (94) Asp-Tyr. A new chain hemoglobin variant with substitution of the residue involved in hydrogen bond between unlike subunits. FEBS Lett. 1972 Nov 1;27(2):298-300. 4667378
  32. Adams JG 3rd, Winter WP, Rucknagel DL, Spencer HH: Biosynthesis of hemoglobin Ann Arbor: evidence for catabolic and feedback regulation. Science. 1972 Jun 30;176(4042):1427-9. 5033650
  33. Sumida I, Ota Y, Imamura T, Yanase T: Hemoglobin Sawara: alpha 6(A4) aspartic acid leads to alanine. Biochim Biophys Acta. 1973 Sep 21;322(1):23-6. 4744335
  34. Pulsinelli PD, Perutz MF, Nagel RL: Structure of hemoglobin M Boston, a variant with a five-coordinated ferric heme. Proc Natl Acad Sci U S A. 1973 Dec;70(12):3870-4. 4521212
  35. Alberti R, Mariuzzi GM, Artibani L, Bruni E, Tentori L: A new haemoglobin variant: J-Rovigo alpha 53 (E-2) alanine leads to aspartic acid. Biochim Biophys Acta. 1974 Mar 14;342(1):1-4. 4824923
  36. Ohba Y, Miyaji T, Matsuoka M, Yokoyama M, Numakura H: Hemoglobin Hirosaki (alpha 43 [CE 1] Phe replaced by Leu), a new unstable variant. Biochim Biophys Acta. 1975 Sep 9;405(1):155-60. 1182166
  37. Thillet J, Blouquit Y, Perrone F, Rosa J: Hemoglobin Pontoise alpha63 Ala replaced by Asp(E12). A new fast moving variant. Biochim Biophys Acta. 1977 Mar 28;491(1):16-22. 849454
  38. Sasaki J, Imamura T, Sumida I, Yanase T, Ohya M: Increased oxygen affinity for hemoglobin Sawara: alphaA4(6) aspartic acid replaced by alanine. Biochim Biophys Acta. 1977 Nov 25;495(1):183-6. 20980
  39. Brennan SO, Tauro GP, Melrose W: Haemoglobin Port Phillip alpha91 (FG3) Leu replaced by Pro, a new unstable haemoglobin. FEBS Lett. 1977 Sep 1;81(1):115-7. 902765
  40. Knuth A, Pribilla W, Marti HR, Winterhalter KH: Hemoglobin Moabit: alpha 86 (F7) Leu leads to Arg: a new unstable abnormal hemoglobin. Acta Haematol. 1979;61(3):121-4. 108887
  41. Marinucci M, Mavilio F, Massa A, Gabbianelli M, Fontanarosa PP, Camagna A, Ignesti C, Tentori L: A new abnormal human hemoglobin: Hb Prato (alpha 2 31 (B12) Arg leads to Ser beta 2). Biochim Biophys Acta. 1979 Jun 19;578(2):534-40. 486536
  42. Jue DL, Johnson MH, Patchen LC, Moo-Penn WF: Hemoglobin Dunn: alpha 6 (A4) aspartic acid replaced by asparagine. Hemoglobin. 1979;3(2-3):137-43. 478975
  43. Charache S, Brimhall B, Zaatari G: Oxygen affinity and stability of hemoglobin Dunn alpha 6(A4)Asp replaced by Asn): use of isoelectric focusing in recognition of a new abnormal hemoglobin. Am J Hematol. 1980;9(2):151-60. 7435503
  44. Honig GR, Vida LN, Shamsuddin M, Mason RG, Schlumpf HW, Luke RA: Hemoglobin Milledgeville (alpha 44 (CD2) Pro leads to Leu): a new variant with increased oxygen affinity. Biochim Biophys Acta. 1980 Dec 16;626(2):424-31. 7213661
  45. Giuliani A, Maffi D, Cappabianca MP, Tentori L: Hemoglobin Legnano (alpha 2 141 (HC3) Arg leads to Leu beta2) a new high oxygen affinity variant. Functional and structural studies. J Biochem. 1980 Nov;88(5):1233-7. 7462179
  46. Poyart C, Bursaux E, Arnone A, Bonaventura J, Bonaventura C: Structural and functional studies of hemoglobin Suresnes (arg 141 alpha 2 replaced by His beta 2). Consequences of disrupting an oxygen-linked anion-binding site. J Biol Chem. 1980 Oct 10;255(19):9465-73. 7410435
  47. Lee-Potter JP, Deacon-Smith RA, Lehmann H, Robb L: Haemoglobin Ferndown (alpha 6 [A4] aspartic acid replaced by valine). FEBS Lett. 1981 Apr 6;126(1):117-9. 7238857
  48. Nakatsuji T, Miwa S, Ohba Y, Miyaji T, Matsumoto N, Matsuoka I: Hemoglobin Tottori (alpha 59[E8] glycine replaced by valine). Hemoglobin. 1981;5(5):427-39. 7275660
  49. Harano T, Harano K, Ueda S, Shibata S, Imai K, Ohba Y, Shinohara T, Horio S, Nishioka K, Shirotani H: Hemoglobin Kawachi [alpha 44 (CE2) Pro leads to Arg]: a new hemoglobin variant of high oxygen affinity with amino acid substitution at alpha 1 beta 2 contact. Hemoglobin. 1982;6(1):43-9. 7068434
  50. Ohba Y, Hattori Y, Matsuoka M, Miyaji T, Fuyuno K: HB Kokura [alpha 47 (CE 5) Asp leads to Gly]: a slightly unstable variant. Hemoglobin. 1982;6(1):69-74. 7068437
  51. Moo-Penn WF, Baine RM, Jue DL, Johnson MH, McGuffey JE, Benson JM: Hemoglobin Evanston: alpha 14(A12) Trp leads to Arg. A variant hemoglobin associated with alpha-thalassemia-2. Biochim Biophys Acta. 1983 Sep 14;747(1-2):65-70. 6882779
  52. Harano T, Harano K, Shibata S, Ueda S, Imai K, Seki M: Hemoglobin Tokoname [alpha 139 (HC 1) Lys leads to Thr]: a new hemoglobin variant with a slightly increased oxygen affinity. Hemoglobin. 1983;7(1):85-90. 6188720
  53. Liu GY, Zhang GX, Nie SY, Luo HY, Teng YQ, Liu SP, Song M, Son L, Chen SS, Jia PC, Liang CC: A case of hemoglobin Iwata [alpha 87(F8)His leads to Arg] in China. Hemoglobin. 1983;7(3):279-82. 6874376
  54. Headlee MG, Nakatsuji T, Lam H, Wrightstone RN, Huisman TH: Hb Etobicoke, alpha 85(F5) Ser leads to Arg found in a newborn of French-Indian-English descent. Hemoglobin. 1983;7(3):285-7. 6874377
  55. Harano T, Harano K, Shibata S, Ueda S, Mori H, Seki M: Hemoglobin Aichi [alpha 50(CE8) His----Arg]: a new slightly unstable hemoglobin variant discovered in Japan. FEBS Lett. 1984 Apr 24;169(2):297-9. 6714429
  56. Nakatsuji T, Wilson JB, Huisman TH: Hb Cordele alpha(2)47 (CE5)Asp----Ala beta 2. A mildly unstable variant observed in black twins. Hemoglobin. 1984;8(1):37-46. 6547117
  57. Sciarratta GV, Ivaldi G, Molaro GL, Sansone G, Salkie ML, Wilson JB, Reese AL, Huisman TH: 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(2):169-81. 6547932
  58. Honig GR, Shamsuddin M, Vida LN, Mompoint M, Valcourt E, Bowie LJ, Jones EC, Powers PA, Spritz RA, Guis M, et al.: Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia. J Clin Invest. 1984 Jun;73(6):1740-9. 6725558
  59. Shimasaki S: A new hemoglobin variant, hemoglobin Nunobiki [alpha 141 (HC3) Arg----Cys]. Notable influence of the carboxy-terminal cysteine upon various physico-chemical characteristics of hemoglobin. J Clin Invest. 1985 Feb;75(2):695-701. 3973024
  60. Baklouti F, Baudin-Chich V, Kister J, Marden M, Teyssier G, Poyart C, Delaunay J, Wajcman H: Increased oxygen affinity with normal heterotropic effects in hemoglobin Loire [alpha 88(F9)Ala----Ser]. Eur J Biochem. 1988 Nov 1;177(2):307-12. 3142772
  61. Groff P, Galacteros F, Kalmes G, Blouquit Y, Wajcman H: Hb Luxembourg [alpha 24(B5) Tyr----His]: a new unstable variant. Hemoglobin. 1989;13(5):429-36. 2599879
  62. Ohba Y, Imai K, Uenaka R, Ami M, Fujisawa K, Itoh K, Hirakawa K, Miyaji T: Hb Miyano or alpha 41(C6)Thr----Ser: a new high oxygen affinity alpha chain variant found in an erythremic blood donor. Hemoglobin. 1989;13(7-8):637-47. 2634665
  63. Bardakdjian-Michau J, Rosa J, Galacteros F, Lancelot M, Marquart FX: Hb Reims [alpha 2(23)(B4)Glu----Gly beta 2]: a new alpha chain variant with slightly decreased stability. Hemoglobin. 1989;13(7-8):733-5. 2634669
  64. McDonald MJ, Michalski LA, Turci SM, Guillette RA, Jue DL, Johnson MH, Moo-Penn WF: Structural, functional, and subunit assembly properties of hemoglobin Attleboro [alpha 138 (H21) Ser----Pro], a variant possessing a site maturation at a critical C-terminal residue. Biochemistry. 1990 Jan 9;29(1):173-8. 2108715
  65. Hidaka K, Iuchi I, Kobayashi T, Katoh K, Yaguchi K: Hb Fukutomi [alpha 126(H9)Asp----Val]: a new hemoglobin variant with high oxygen affinity. Hemoglobin. 1990;14(5):499-509. 2079432
  66. Lendaro E, Ippoliti R, Brancaccio A, Bellelli A, Vallone B, Ivaldi G, Sciarratta GV, Castello C, Tomova S, Brunori M, et al.: Hemoglobin Dallas (alpha 97(G4)Asn-->Lys): functional characterization of a high oxygen affinity natural mutant. Biochim Biophys Acta. 1992 Oct 13;1180(1):15-20. 1390940
  67. Wajcman H, Kister J, Marden M, Lahary A, Monconduit M, Galacteros F: Hemoglobin Rouen (alpha-140 (HC2) Tyr-->His): alteration of the alpha-chain C-terminal region and moderate increase in oxygen affinity. Biochim Biophys Acta. 1992 Oct 13;1180(1):53-7. 1390944
  68. Abbes S, M'Rad A, Fitzgerald PA, Dormer P, Blouquit Y, Kister J, Galacteros F, Wajcman H: HB Al-Ain Abu Dhabi [alpha 18(A16)Gly----Asp]: a new hemoglobin variant discovered in an Emiratee family. Hemoglobin. 1992;16(5):355-62. 1428941
  69. Wajcman H, Vasseur C, Blouquit Y, Rosa J, Labie D, Najman A, Reman O, Leporrier M, Galacteros F: Unstable alpha-chain hemoglobin variants with factitious beta-thalassemia biosynthetic ratio: Hb Questembert (alpha 131[H14]Ser-->Pro) and Hb Caen (alpha 132[H15]Val-->Gly). Am J Hematol. 1993 Apr;42(4):367-74. 8493987
  70. Curuk MA, Dimovski AJ, Baysal E, Gu LH, Kutlar F, Molchanova TP, Webber BB, Altay C, Gurgey A, Huisman TH: Hb Adana or alpha 2(59)(E8)Gly-->Asp beta 2, a severely unstable alpha 1-globin variant, observed in combination with the -(alpha)20.5 Kb alpha-thal-1 deletion in two Turkish patients. Am J Hematol. 1993 Dec;44(4):270-5. 8237999
  71. Wajcman H, Kister J, Galacteros F, Spielvogel A, Lin MJ, Vidugiris GJ, Hirsch RE, Friedman JM, Nagel RL: Hb Montefiore (126(H9)Asp-->Tyr). High oxygen affinity and loss of cooperativity secondary to C-terminal disruption. J Biol Chem. 1996 Sep 20;271(38):22990-8. 8798486
  72. Fujiwara N, Maekawa T, Matsuda G: Hemoglobin Atago (alpha2-85Tyr beta-2) a new abnormal human hemoglobin found in Nagasaki. Biochemical studies on hemoglobins and myoglobins. VI. Int J Protein Res. 1971;3(1):35-9. 5115619
  73. Brennan SO, Matthews JR: Hb Auckland [alpha 87(F8) His-->Asn]: a new mutation of the proximal histidine identified by electrospray mass spectrometry. Hemoglobin. 1997 Sep;21(5):393-403. 9322075
  74. Wajcman H, Kister J, M'Rad A, Soummer AM, Galacteros F: Hb Cemenelum [alpha 92 (FG4) Arg-->Trp]: a hemoglobin variant of the alpha 1/beta 2 interface that displays a moderate increase in oxygen affinity. Ann Hematol. 1994 Feb;68(2):73-6. 8148419
  75. Zeng YT, Huang SZ, Qiu XK, Cheng GC, Ren ZR, Jin QC, Chen CY, Jiao CT, Tang ZG, Liu RH, et al.: Hemoglobin Chongqing [alpha 2(NA2)Leu----Arg] and hemoglobin Harbin [alpha 16(A14)Lys----Met] found in China. Hemoglobin. 1984;8(6):569-81. 6526652
  76. Ayala S, Colomer D, Gelpi JL, Corrons JL: alpha-Thalassaemia due to a single codon deletion in the alpha1-globin gene. Computational structural analysis of the new alpha-chain variant. Mutations in brief no. 132. Online. Hum Mutat. 1998;11(5):412. 10206681
  77. Wilson JB, Webber BB, Plaseska D, de Alarcon PA, McMillan SK, Huisman TH: Hb Davenport or alpha 2(78)(EF7)Asn----His beta 2. Hemoglobin. 1990;14(6):599-605. 2101836
  78. Wilson JB, Webber BB, Kutlar A, Reese AL, McKie VC, Lutcher CL, Felice AE, Huisman TH: Hb Evans or alpha 262(E11)Val----Met beta 2; an unstable hemoglobin causing a mild hemolytic anemia. Hemoglobin. 1989;13(6):557-66. 2606724
  79. Cash FE, Monplaisir N, Goossens M, Liebhaber SA: Locus assignment of two alpha-globin structural mutants from the Caribbean basin: alpha Fort de France (alpha 45 Arg) and alpha Spanish Town (alpha 27 Val). Blood. 1989 Aug 1;74(2):833-5. 2752146
  80. Wajcman H, Kister J, Riou J, Galacteros F, Girot R, Maier-Redelsperger M, Nayudu NV, Giordano PC: Hb Godavari [alpha 95(G2)Pro-->Thr]: a neutral amino acid substitution in the alpha 1 beta 2 interface that modifies the electrophoretic mobility of hemoglobin. Hemoglobin. 1998 Jan;22(1):11-22. 9494044
  81. Huisman TH, Wilson JB, Gravely M, Hubbard M: Hemoglobin Grady: the first example of a variant with elongated chains due to an insertion of residues. Proc Natl Acad Sci U S A. 1974 Aug;71(8):3270-3. 4528583
  82. Orisaka M, Tajima T, Harano T, Harano K, Kushida Y, Imai K: A new alpha chain variant, Hb Hanamaki or alpha 2(139)(HC1)Lys----Glu beta 2, found in a Japanese family. Hemoglobin. 1992;16(1-2):67-71. 1634363
  83. Harano T, Harano K, Shibata S, Ueda S, Imai K, Seki M: HB Handa [alpha 90 (FG 2) Lys replaced by Met]: structure and biosynthesis of a new slightly higher oxygen affinity variant. Hemoglobin. 1982;6(4):379-89. 6815131
  84. Charache S, Mondzac AM, Gessner U: Hemoglobin Hasharon (alpha-2-47 his(CD5)beta-2): a hemoglobin found in low concentration. J Clin Invest. 1969 May;48(5):834-47. 5780195
  85. Fleming PJ, Sumner DR, Wyatt K, Hughes WG, Melrose WD, Jupe DM, Baikie MJ: Hemoglobin Hobart or alpha 20(Bl)His----Arg: a new alpha chain hemoglobin variant. Hemoglobin. 1987;11(3):211-20. 3654264
  86. Reed RE, Winter WP, Rucknagel DL: Haemoglobin inkster (alpha2 85aspartic acid leads to valine beta2) coexisting with beta-thalassaemia in a Caucasian family. Br J Haematol. 1974 Mar;26(3):475-84. 4212045
  87. Miyashita H, Hashimoto K, Mohri H, Ohokubo T, Harano T, Harano K, Imai K: Hb Kanagawa [alpha 40(C5)Lys----Met]: a new alpha chain variant with an increased oxygen affinity. Hemoglobin. 1992;16(1-2):1-10. 1634355
  88. Giordano PC, Harteveld CL, Streng H, Oosterwijk JC, Heister JG, Amons R, Bernini LF: Hb Kurdistan [alpha 47(CE5)Asp-->Tyr], a new alpha chain variant in combination with beta (0)-thalassemia. Hemoglobin. 1994 Jan;18(1):11-8. 8195005
  89. Harano T, Harano K, Imai K, Murakami T, Matsubara H: Hb Kurosaki [alpha 7(A5)Lys-->Glu]: a new alpha chain variant found in a Japanese woman. Hemoglobin. 1995 May-Jul;19(3-4):197-201. 7558876
  90. Yalcin A, Avcu F, Beyan C, Gurgey A, Ural AU: A case of HB J-Meerut (or Hb J-Birmingham) [alpha 120(H3)Ala-->Glu]. Hemoglobin. 1994 Nov;18(6):433-5. 7713747
  91. Wajcman H, Kalmes G, Groff P, Prome D, Riou J, Galacteros F: Hb Melusine [alpha 114(GH2)Pro-->Ser]: a new neutral hemoglobin variant. Hemoglobin. 1993 Oct;17(5):397-405. 8294199
  92. Brimhall B, Jones RT, Schneider RG, Hosty TS, 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 Jan 30;379(1):28-32. 1115799
  93. Honig GR, Shamsuddin M, Zaizov R, Steinherz M, Solar I, Kirschmann C: Hemoglobin Petah Tikva (alpha 110 ala replaced by asp): a new unstable variant with alpha-thalassemia-like expression. Blood. 1981 Apr;57(4):705-11. 7470621
  94. Wajcman H, Prehu MO, Prehu C, Blouquit Y, Prome D, Galacteros F: Hemoglobin Phnom Penh [alpha117Phe(H1)-Ile-alpha118Thr(H2)]; evidence for a hotspot for insertion of residues in the third exon of the alpha1-globin gene. Hum Mutat. 1998;Suppl 1:S20-2. 9452028
  95. Zwerdling T, Williams S, Nasr SA, Rucknagel DL: Hb Port Huron [alpha 56 (E5)Lys----ARG]: a new alpha chain variant. Hemoglobin. 1991;15(5):381-91. 1802882
  96. Zeng YT, Huang SZ, Zhou XD, Qiu XK, Dong QY, Li MY, Bai JH: Hb Shenyang (alpha 26 (B7) Ala replaced by Glu): a new unstable variant found in China. Hemoglobin. 1982;6(6):625-8. 7161109
  97. 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(2-3):161-74. 478977
  98. Ohba Y, Yamamoto K, Hattori Y, Kawata R, Miyaji T: Hyperunstable hemoglobin Toyama [alpha 2 136(H19)Leu----Arg beta 2]: detection and identification by in vitro biosynthesis with radioactive amino acids. Hemoglobin. 1987;11(6):539-56. 2833478
  99. Harkness M, Harkness DR, Kutlar F, Kutlar A, Wilson JB, Webber BB, Codrington JF, Huisman TH: Hb Sun Prairie or alpha(2)130(H13)Ala----Pro beta 2, a new unstable variant occurring in low quantities. Hemoglobin. 1990;14(5):479-89. 2079430
  100. Harano T, Harano K, Imai K, Terunuma S: HB Swan River [alpha 6(A4)ASP-->Gly] observed in a Japanese man. Hemoglobin. 1996 Feb;20(1):75-8. 8745434
  101. Vasseur C, Blouquit Y, Kister J, Prome D, Kavanaugh JS, Rogers PH, Guillemin C, Arnone A, Galacteros F, Poyart C, et al.: Hemoglobin Thionville. An alpha-chain variant with a substitution of a glutamate for valine at NA-1 and having an acetylated methionine NH2 terminus. J Biol Chem. 1992 Jun 25;267(18):12682-91. 1618774
  102. Darbellay R, Mach-Pascual S, Rose K, Graf J, Beris P: Haemoglobin Tunis-Bizerte: a new alpha 1 globin 129 Leu-->Pro unstable variant with thalassaemic phenotype. Br J Haematol. 1995 May;90(1):71-6. 7786798
  103. Langdown JV, Davidson RJ, Williamson D: A new alpha chain variant, Hb Turriff [alpha 99(G6)Lys----Glu]: the interference of abnormal hemoglobins in Hb A1c determination. Hemoglobin. 1992;16(1-2):11-7. 1634357
  104. Wajcman H, Kister J, M'Rad A, Marden MC, Riou J, Galacteros F: Hb Val de Marne [alpha 133(H16)Ser-->Arg]: a new hemoglobin variant with moderate increase in oxygen affinity. Hemoglobin. 1993 Oct;17(5):407-17. 8294200
  105. Jiang NH, Liang S, Wen XJ, Liang R, Su C, Tang Z: Hb Westmead: an alpha 2-globin gene mutation detected by polymerase chain reaction and Stu I cleavage. Hemoglobin. 1991;15(4):291-5. 1686260
  106. Como PF, Barber S, Sage RE, Trent RJ, Kronenberg H: Hemoglobin Woodville: alpha (2)6(A4) aspartic acid----tyrosine. Hemoglobin. 1986;10(2):135-41. 3754246
  107. Fujisawa K, Hattori Y, Ohba Y, Ando S: Hb Yuda or alpha 130(H13)Ala----Asp; a new alpha chain variant with low oxygen affinity. Hemoglobin. 1992;16(5):435-9. 1428950
  108. Wajcman H, Blouquit Y, Vasseur C, Le Querrec A, Laniece M, Melevendi C, Rasore A, Galacteros F: Two new human hemoglobin variants caused by unusual mutational events: Hb Zaire contains a five residue repetition within the alpha-chain and Hb Duino has two residues substituted in the beta-chain. Hum Genet. 1992 Aug;89(6):676-80. 1511986
  109. Traeger-Synodinos J, Harteveld CL, Kanavakis E, Giordano PC, Kattamis C, Bernini LF: Hb Aghia Sophia [alpha62(E11)Val-->0 (alpha1)], an "in-frame" deletion causing alpha-thalassemia. Hemoglobin. 1999 Nov;23(4):317-24. 10569720
  110. Lacan P, Francina A, Souillet G, Aubry M, Couprie N, Dementhon L, Becchi M: Two new alpha chain variants: Hb Boghe [alpha58(E7)His-->Gln, alpha2], a variant on the distal histidine, and Hb CHarolles [alpha103(G10)His-Tyr, alpha1]. Hemoglobin. 1999 Nov;23(4):345-52. 10569723
  111. Jorge SB, Melo MB, Costa FF, Sonati MF: Screening for mutations in human alpha-globin genes by nonradioactive single-strand conformation polymorphism. Braz J Med Biol Res. 2003 Nov;36(11):1471-4. Epub 2003 Oct 22. 14576901
  112. Abdulmalik O, Safo MK, Lerner NB, Ochotorena J, Daikhin E, Lakka V, Santacroce R, Abraham DJ, Asakura T: Characterization of hemoglobin bassett (alpha94Asp-->Ala), a variant with very low oxygen affinity. Am J Hematol. 2004 Nov;77(3):268-76. 15495251
  113. Martin G, Villegas A, Gonzalez FA, Ropero P, Hojas R, Polo M, Mateo M, Salvador M, Benavente C: A novel mutation of the alpha2-globin causing alpha(+)-thalassemia: Hb Plasencia [alpha125(H8)Leu--Arg (alpha2). Hemoglobin. 2005;29(2):113-7. 15921163