IthaID: 1505



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Vietnamese, SE Asian HGVS Name: NC_000011.10:g.5201647-5229059del27412bp
Hb Name: N/A Protein Info: N/A

Also known as: HPFH-7, SEA-HPFH

Comments: This deletion involves the entire β-globin gene and a 26 kb 3’ region to the β-globin gene with a total deletion length of 27 kb or 30 kb (conflicting reports). The 5′ breakpoint is located ~3.5 kb downstream of the δ-globin gene (or between nucleotides 986 and 987 upstream of the β-globin gene). The 3' breakpoint is located ~2.3 kb downstream from the 3′ HS-1 site of the β-globin gene. According to the distance from the 3’ breakpoint to the 3’ HS1 site, which is located approximately 20 kb 3’ of the β-globin gene, the total length of this deletion should be about 27 kb. The 3' breakpoint is also found ~8 kb 3' to the breakpoint found in HPFH-3 and close to that of the German and Belgian Gγ(Aγδβ)-thalassemia types. The deletion is the result of a non-homologous recombination event.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 27 kb
Deletion involves: β

Phenotype

Hemoglobinopathy Group: HPFH
Hemoglobinopathy Subgroup: HPFH
Allele Phenotype:HPFH
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]

Other details

Type of Mutation: Deletion
Ethnic Origin: Vietnamese, Cambodian, Chinese Zhuang
Inheritance: Recessive
DNA Breakpoint Determined: Yes
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Motum PI, Hamilton TJ, Lindeman R, Le H, Trent RJ, Molecular characterisation of Vietnamese HPFH., Human mutation, 2(3), 179-84, 1993 PubMed
  2. Dimovski AJ, Divoky V, Adekile AD, Baysal E, Wilson JB, Prior JF, Raven JL, Huisman TH, A novel deletion of approximately 27 kb including the beta-globin gene and the locus control region 3'HS-1 regulatory sequence: beta zero-thalassemia or hereditary persistence of fetal hemoglobin?, Blood, 83(3), 822-7, 1994 PubMed
  3. Xu XM, Li ZQ, Liu ZY, Zhong XL, Zhao YZ, Mo QH, Molecular characterization and PCR detection of a deletional HPFH: application to rapid prenatal diagnosis for compound heterozygotes of this defect with beta-thalassemia in a Chinese family., Am. J. Hematol., 65(3), 183-8, 2000 PubMed
  4. He S, Wei Y, Lin L, Chen Q, Yi S, Zuo Y, Wei H, Zheng C, Chen B, Qiu X, The prevalence and molecular characterization of (δβ)(0) -thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population., J. Clin. Lab. Anal. , 2017 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2019-04-09 10:24:07 (Show full history)

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