Hemoglobin Alpha 1 (HBa1)

Alpha-globin

SPN	T696
HGNC	4823
MGI	96016
PubMed	3391093
RGD	2782
UniProt	P69905
Wiki	HBA1

The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported.

Reference

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Cell 22:371-377(1980) [PubMed] [Europe PMC] [Abstract]

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Proc. Natl. Acad. Sci. U.S.A. 77:7054-7058(1980) [PubMed] [Europe PMC] [Abstract]

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Haematologica 86:541-542(2001) [PubMed] [Europe PMC] [Abstract]

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Zhonghua Yi Xue Yi Chuan Xue Za Zhi 18:216-218(2001) [PubMed] [Europe PMC] [Abstract]

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Science 312:1215-1217(2006) [PubMed] [Europe PMC] [Abstract]

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Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]

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"Lysine acetylation targets protein complexes and co-regulates major cellular functions."
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"Crystal structure of a human embryonic haemoglobin: the carbonmonoxy form of Gower II (alpha2 epsilon2) haemoglobin at 2.9-A resolution."
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Biochemistry 32:2509-2513(1993) [PubMed] [Europe PMC] [Abstract]

"HB Al-Ain Abu Dhabi [alpha 18(A16)Gly-->Asp]: a new hemoglobin variant discovered in an Emiratee family."
Hemoglobin 16:355-362(1992) [PubMed] [Europe PMC] [Abstract]

"Hemoglobin Atago (alpha2-85 Tyr beta-2) a new abnormal human hemoglobin found in Nagasaki. Biochemical studies on hemoglobins and myoglobins. VI."
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Hemoglobin 21:393-403(1997) [PubMed] [Europe PMC] [Abstract]

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Biochim. Biophys. Acta 336:344-360(1974)

"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."
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"Hemoglobin Chongqing [alpha 2(NA2)Leu-->Arg] and hemoglobin Harbin [alpha 16(A14)Lys-->Met] found in China."
Hemoglobin 8:569-581(1984) [PubMed] [Europe PMC] [Abstract]

"Alpha-thalassaemia due to a single codon deletion in the alpha 1-globin gene. Computational structural analysis of the new alpha-chain variant."
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"Hb Davenport or alpha 2(78)(EF7)Asn-->His beta 2."
Hemoglobin 14:599-605(1990) [PubMed] [Europe PMC] [Abstract]

"Hb Evans or alpha 262(E11)Val-->Met beta 2; an unstable hemoglobin causing a mild hemolytic anemia."
Hemoglobin 13:557-566(1989) [PubMed] [Europe PMC] [Abstract]

"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 74:833-835(1989) [PubMed] [Europe PMC] [Abstract]

"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 22:11-22(1998) [PubMed] [Europe PMC] [Abstract]

"Hemoglobin Grady: the first example of a variant with elongated chains due to an insertion of residues."
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"A new alpha chain variant, Hb Hanamaki or alpha 2(139)(HC1)Lys-->Glu beta 2, found in a Japanese family."
Hemoglobin 16:67-71(1992) [PubMed] [Europe PMC] [Abstract]

"HB Handa [alpha 90 (FG 2) Lys replaced by Met]: structure and biosynthesis of a new slightly higher oxygen affinity variant."
Hemoglobin 6:379-389(1982) [PubMed] [Europe PMC] [Abstract]

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"Hemoglobin Hobart or alpha 20(Bl)His-->Arg: a new alpha chain hemoglobin variant."
Hemoglobin 11:211-220(1987) [PubMed] [Europe PMC] [Abstract]

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Br. J. Haematol. 26:475-484(1974) [PubMed] [Europe PMC] [Abstract]

"Hb Kanagawa [alpha 40(C5)Lys-->Met]: a new alpha chain variant with an increased oxygen affinity."
Hemoglobin 16:1-10(1992) [PubMed] [Europe PMC] [Abstract]

"Hb Kurdistan [alpha 47(CE5)Asp-->Tyr], a new alpha chain variant in combination with beta (0)-thalassemia."
Hemoglobin 18:11-18(1994) [PubMed] [Europe PMC] [Abstract]

"Hb Kurosaki [alpha 7(A5)Lys-->Glu]: a new alpha chain variant found in a Japanese woman."
Hemoglobin 19:197-201(1995) [PubMed] [Europe PMC] [Abstract]

"A case of HB J-Meerut (or Hb J-Birmingham) [alpha 120(H3)Ala-->Glu]."
Hemoglobin 18:433-435(1994) [PubMed] [Europe PMC] [Abstract]

"Hb Melusine [alpha 114(GH2)Pro-->Ser]: a new neutral hemoglobin variant."
Hemoglobin 17:397-405(1993) [PubMed] [Europe PMC] [Abstract]

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"Hemoglobin Petah Tikva (alpha 110 Ala replaced by Asp): a new unstable variant with alpha-thalassemia-like expression."
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"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. Suppl. 1:S20-S22(1998) [PubMed] [Europe PMC] [Abstract]

"Hb Port Huron [alpha 56 (E5)Lys-->Arg]: a new alpha chain variant."
Hemoglobin 15:381-391(1991) [PubMed] [Europe PMC] [Abstract]

"Hemoglobin Sawara: alpha 6(A4) aspartic acid leads to alanine."
Biochim. Biophys. Acta 322:23-26(1973) [PubMed] [Europe PMC] [Abstract]

"Hb Shenyang (alpha 26 (B7) Ala replaced by Glu): a new unstable variant found in China."
Hemoglobin 6:625-628(1982) [PubMed] [Europe PMC] [Abstract]

"Hemoglobin Suan-Dok (alpha 2 109 (G16) Leu replaced by Arg beta 2): an unstable variant associated with alpha-thalassemia."
Hemoglobin 3:161-174(1979) [PubMed] [Europe PMC] [Abstract]

"Hyperunstable hemoglobin Toyama [alpha 2 136(H19)Leu----Arg beta 2]: detection and identification by in vitro biosynthesis with radioactive amino acids."
Hemoglobin 11:539-556(1987) [PubMed] [Europe PMC] [Abstract]

"Hb Sun Prairie or alpha(2)130(H13)Ala-->Pro beta 2, a new unstable variant occurring in low quantities."
Hemoglobin 14:479-489(1990) [PubMed] [Europe PMC] [Abstract]

"HB Swan River [alpha 6(A4)Asp-->Gly] observed in a Japanese man."
Hemoglobin 20:75-78(1996) [PubMed] [Europe PMC] [Abstract]

"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. 267:12682-12691(1992) [PubMed] [Europe PMC] [Abstract]

"Haemoglobin Tunis-Bizerte: a new alpha 1 globin 129 Leu-->Pro unstable variant with thalassaemic phenotype."
Br. J. Haematol. 90:71-76(1995) [PubMed] [Europe PMC] [Abstract]

"A new alpha chain variant, Hb Turriff [alpha 99(G6)Lys-->Glu]: the interference of abnormal hemoglobins in Hb A1c determination."
Hemoglobin 16:11-17(1992) [PubMed] [Europe PMC] [Abstract]

"Hb Val de Marne [alpha 133(H16)Ser-->Arg]: a new hemoglobin variant with moderate increase in oxygen affinity."
Hemoglobin 17:407-417(1993) [PubMed] [Europe PMC] [Abstract]

"Hb Westmead: an alpha 2-globin gene mutation detected by polymerase chain reaction and Stu I cleavage."
Hemoglobin 15:291-295(1991) [PubMed] [Europe PMC] [Abstract]

"Hemoglobin Woodville: alpha (2)6(A4) aspartic acid-->tyrosine."
Hemoglobin 10:135-141(1986) [PubMed] [Europe PMC] [Abstract]

"Hb Yuda or alpha 130(H13)Ala-->Asp; a new alpha chain variant with low oxygen affinity."
Hemoglobin 16:435-439(1992) [PubMed] [Europe PMC] [Abstract]

"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. 89:676-680(1992) [PubMed] [Europe PMC] [Abstract]

"Hb Aghia Sophia [alpha62(E11)Val-->0 (alpha1)], an 'in-frame' deletion causing alpha-thalassemia."
Hemoglobin 23:317-324(1999) [PubMed] [Europe PMC] [Abstract]

"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 23:345-352(1999) [PubMed] [Europe PMC] [Abstract]

"Screening for mutations in human alpha-globin genes by nonradioactive single-strand conformation polymorphism."
Braz. J. Med. Biol. Res. 36:1471-1474(2003) [PubMed] [Europe PMC] [Abstract]

"Characterization of hemoglobin Bassett (alpha94Asp-->Ala), a variant with very low oxygen affinity."
Am. J. Hematol. 77:268-276(2004) [PubMed] [Europe PMC] [Abstract]

"A novel mutation of the alpha2-globin causing alpha(+)-thalassemia: Hb Plasencia [alpha125(H8)Leu-->Arg (alpha2)."
Hemoglobin 29:113-117(2005) [PubMed] [Europe PMC] [Abstract]