Hemoglobin Delta (HBd)

Delta-globin

SPN	T694
HGNC	4829
MGI	96021
PubMed	16370490
UniProt	P02042
Wiki	HBD

The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA-2, which with HbF comprises the remaining 3% of adult hemoglobin. De Angioletti et al. (2002) characterized mutations and haplotypes of the HBD gene in 2 regions of southern Italy. They screened approximately 10,000 students in Basilicata and found 53 carriers of HBD variants in 43 unrelated families; in Campania, patients were ascertained through a routine thalassemia counseling service. They found 6 novel mutations and stated that 46 HBD mutations had been previously characterized, of which 30 were from the Mediterranean area .

Reference

"Complete nucleotide sequence of the human delta-globin gene."
Cell 21:639-646(1980) [PubMed] [Europe PMC] [Abstract]

"The IVS-II-1(G>A) betao-thalassemia mutation in cis with HbA2-Troodos [Delta 116 (G18) Arg>Cys (CGC>TGC)] causes a complex prenatal diagnosis in an Iranian family."
Hemoglobin 29:289-292(2005) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Hemoglobins, XXIII. Note on the sequence of the delta-chains of human hemoglobin."
Hoppe-Seyler's Z. Physiol. Chem. 359:777-783(1978) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Crystal structures of HbA2 and HbE and modeling of hemoglobin delta 4: interpretation of the thermal stability and the antisickling effect of HbA2 and identification of the ferrocyanide binding site in Hb."
Biochemistry 43:12477-12488(2004) [PubMed] [Europe PMC] [Abstract]

"Haemoglobin A2: alpha-2-delta-2-16 glycine-->arginine."
Nature 209:1217-1218(1966) [PubMed] [Europe PMC] [Abstract]

"Haemoglobin Babinga (delta 136 glycine-aspartic acid): a new delta chain variant."
Nature 219:1360-1362(1968) [PubMed] [Europe PMC] [Abstract]

"Hemoglobin NYU, a delta chain variant, alpha 2 delta 2 Lys."
J. Clin. Invest. 48:2057-2062(1969) [PubMed] [Europe PMC] [Abstract]

"Hemoglobin A2-Indonesia or alpha 2 delta 2 69(E13) Gly-->Arg."
Biochim. Biophys. Acta 229:335-342(1971) [PubMed] [Europe PMC] [Abstract]

"A new delta chain variant, haemoglobin-A2-Melbourne or alpha2 delta2 43Glu-Lys(CD2)."
Biochim. Biophys. Acta 359:233-235(1974) [PubMed] [Europe PMC] [Abstract]

"Hemoglobin-A2-Coburg or alpha2delta2116Arg leads to His (G18)."
Biochim. Biophys. Acta 393:379-382(1975) [PubMed] [Europe PMC] [Abstract]

"Hemoglobin A2-Roosevelt: alpha 2 delta 2 20Val replaced by Glu."
Biochim. Biophys. Acta 439:501-504(1976) [PubMed] [Europe PMC] [Abstract]

"Hb A2-Canada or alpha 2 delta 2 99(G1) Asp replaced by Asn, a newly discovered delta chain variant with increased oxygen affinity occurring in cis to beta-thalassemia."
Hemoglobin 6:223-231(1982) [PubMed] [Europe PMC] [Abstract]

"Hb A2-Manzanares or alpha 2 delta 2 121 (GH4) Glu replaced by Val, an unstable delta chain variant observed in a Spanish family."
Hemoglobin 7:435-442(1983) [PubMed] [Europe PMC] [Abstract]

"Hb A2-Zagreb or alpha 2 delta 2(125)(H3)Gln replaced by Glu, a new delta chain variant in association with delta beta-thalassemia."
Hemoglobin 7:443-448(1983) [PubMed] [Europe PMC] [Abstract]

"HbA2 Victoria delta 24 (B6) Gly-->Asp. A new delta chain variant occurring with beta-thalassemia."
Hemoglobin 8:163-168(1984) [PubMed] [Europe PMC] [Abstract]

"Hemoglobin A2 Fitzroy delta 142 Ala-->Asp: a new delta-chain variant."
Hemoglobin 8:325-332(1984) [PubMed] [Europe PMC] [Abstract]

"Hemoglobin A2 Honai (alpha 2 delta 2(90)(F6)Glu-->Val): a new delta chain variant."
Hemoglobin 9:597-607(1985) [PubMed] [Europe PMC] [Abstract]

"Hb A2 Yokoshima, alpha(2)delta(2)25(B7)Gly-->Asp, a new delta chain variant found in a Japanese family."
Hemoglobin 9:613-615(1985) [PubMed] [Europe PMC] [Abstract]

"Hb A2-Wrens or alpha 2 delta 2 98(FG5) Val-->Met, an unstable delta chain variant identified by sequence analysis of amplified DNA."
Biochim. Biophys. Acta 1009:87-89(1989) [PubMed] [Europe PMC] [Abstract]

"Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis."
Blood 78:3298-3305(1991) [PubMed] [Europe PMC] [Abstract]

"Hb A2-Niigata [delta 1(NA1)Val-->Ala]: a new delta chain variant found in the Japanese population."
Hemoglobin 15:335-339(1991) [PubMed] [Europe PMC] [Abstract]

"Hb A2-Parkville or delta 47(CD6)Asp-->Val, a new delta chain variant."
Hemoglobin 15:407-416(1991) [PubMed] [Europe PMC] [Abstract]

"A new delta chain variant hemoglobin A2-Corfu or alpha 2 delta 2 116 Arg-->Cys (G18), detected by delta-globin gene analysis in a Greek family."
Hum. Genet. 87:237-238(1991) [PubMed] [Europe PMC] [Abstract]

"Analysis of delta-globin gene mutations in Greek cypriots."
Blood 82:1647-1651(1993) [PubMed] [Europe PMC] [Abstract]

"Hb A2-Grovetown or alpha 2 delta (2)75(E19)Leu-->Val."
Hemoglobin 17:289-291(1993) [PubMed] [Europe PMC] [Abstract]

"A new delta-chain variant hemoglobin A2-Puglia or alpha 2 delta 2 26 Glu-->Asp (B8), detected by DNA analysis in a family of southern Italian origin."
Hum. Mutat. 2:327-329(1993) [PubMed] [Europe PMC] [Abstract]

"Hb A2-Sant' Antioco alpha 2 delta (2)93(F9)Cys-->Gly: a new delta chain variant identified by sequencing of amplified DNA."
Hemoglobin 18:437-439(1994) [PubMed] [Europe PMC] [Abstract]

"Hb A2-Agrinio [delta 43(CD2)Glu-->Gly(GAG-->GGG)]: a new delta chain variant detected in a Greek family."
Hemoglobin 19:295-299(1995) [PubMed] [Europe PMC] [Abstract]

"Delta-thalassemic phenotype due to two 'novel' delta-globin gene mutations: CD11[GTC-->GGC (A8)-HbA2-Pylos] and CD 85[TTT-->TCT(F1)-HbA2-Etolia]."
Hum. Mutat. 9:344-347(1997) [PubMed] [Europe PMC] [Abstract]

"Hb A2-Monreale delta146(HC3)His-->Arg, a novel delta chain variant detected in west Sicily."
Hemoglobin 26:1-5(2002) [PubMed] [Europe PMC] [Abstract]

"Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features."
Hum. Mutat. 20:358-367(2002) [PubMed] [Europe PMC] [Abstract]

"Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] and a delta(+)-thalassemia mutation [-31 (A-->G)] in the TATA box of the delta-globin gene."
Hemoglobin 29:151-154(2005) [PubMed] [Europe PMC] [Abstract]

"Identification of a new delta chain hemoglobin variant in a beta-thalassemia carrier: Hb A2-mumc [delta13(a10)Ala-->Asp]."
Hemoglobin 29:285-287(2005) [PubMed] [Europe PMC] [Abstract]

"Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations."
Haematologica 91:1681-1684(2006) [PubMed] [Europe PMC] [Abstract]