IthaID: 301

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.

Heterozygous records (preview in IthaPhen)

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
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
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
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
5. Baysal E, Huisman TH, Detection of common deletional alpha-thalassemia-2 determinants by PCR., Am. J. Hematol. , 46(3), 208-13, 1994
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
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
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
9. Huang Y, Ju A, Zheng L, Xu B, Liang L, Li Y, Genetic screening of α-thalassemia fusion gene using routine flow-through hybridization., Front Genet, 15(0), 1460974, 2024