IthaID: 301

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -α4.2 HGVS Name: NC_000016.10:g.169818_174075del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Leftward crossover between misaligned homologous X boxes, which are 4.2 kb apart on the two chromosomes, produces one chromosome with the 4.2 kb deletion and only one functional α-globin gene (HBA1), that is a deletional form of α+ thalassaemia, and another chromosome with the three α-globin genes [IthaID: 2569]. View [PMID: 14500599] for a schematic representation of the crossover between mispaired X boxes and [PMID: 28865746] for HGVS name.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: 30681
Size: 4.257 kb
Fusion involves: α2

Other details

Type of Mutation: Fusion
Ethnic Origin: Worldwide
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Embury SH, Miller JA, Dozy AM, Kan YW, Chan V, Todd D, Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype., The Journal of clinical investigation, 66(6), 1319-25, 1980 PubMed
  2. Bowden DK, Hill AV, Higgs DR, Oppenheimer SJ, Weatherall DJ, Clegg JB, Different hematologic phenotypes are associated with the leftward (-alpha 4.2) and rightward (-alpha 3.7) alpha+-thalassemia deletions., J. Clin. Invest. , 79(1), 39-43, 1987 PubMed
  3. Fodde R, Losekoot M, van den Broek MH, Oldenburg M, Rashida N, Schreuder A, Wijnen JT, Giordano PC, Nayudu NV, Khan PM, Prevalence and molecular heterogeneity of alfa+ thalassemia in two tribal populations from Andhra Pradesh, India., Hum. Genet. , 80(2), 157-60, 1988 PubMed
  4. Gupta RB, Tiwary RS, Pande PL, Kutlar F, Oner C, Oner R, Huisman TH, Hemoglobinopathies among the Gond tribal groups of central India; interaction of alpha- and beta-thalassemia with beta chain variants., Hemoglobin , 15(5), 441-58, 1991 PubMed
  5. Baysal E, Huisman TH, Detection of common deletional alpha-thalassemia-2 determinants by PCR., Am. J. Hematol. , 46(3), 208-13, 1994 PubMed
  6. Chang JG, Liu TC, Chiou SS, Chen JT, Chen TP, Lin CP, Rapid detection of -alpha 4.2 deletion of alpha-thalassemia-2 by polymerase chain reaction., Ann. Hematol. , 69(4), 205-9, 1994 PubMed
  7. Wang W, Ma ES, Chan AY, Prior J, Erber WN, Chan LC, Chui DH, Chong SS, Single-tube multiplex-PCR screen for anti-3.7 and anti-4.2 alpha-globin gene triplications., Clin. Chem., 49(10), 1679-82, 2003 PubMed
  8. Lin W, Zhang Q, Shen Z, Qu X, Wang Q, Wei L, Qiu Y, Yang J, Xu X, Lao J, Molecular and phenotype characterization of an elongated β-globin variant produced by HBB:C.313delA., Int J Lab Hematol, 43(6), 1620-1627, 2021 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2021-12-22 12:42:11 (Show full history)

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