IthaID: 1504



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: SE Asian, Thai (Aγδβ)0 HGVS Name: NC_000011.10:g.5172745_5252029
Hb Name: N/A Protein Info: N/A

Also known as: HPFH-6

Comments: The deletion is reported in members of Thai families. In one family, the propositus was diagnosed as heterozygous for δβ-thalassaemia and β-thalassaemia, presenting with a thalassaemia intermedia clinical phenotype. Analysis of HbF showed only Gγ chain with pancellular but uneven distribution in erythrocytes. Following restriction mapping, the 5’end of the deletion appeared to reside near the EcoRI site 3’ to the Gγ gene [PMID: 2889616]. In another family, the propositus and two siblings were diagnosed as compound heterozygous for δβ-thalassaemia and β-thalassaemia, presenting clinically as thalassaemia intermedia. The father and two other siblings were carriers for this deletion and had raised % HbF (mainly Gγ chains) with pancellular distribution in their erythrocytes. Gene mapping showed that the deletion starts at the HindIII site 3' to the Gγ gene, and extends to a region more than 45 kb from the 3' end of the β gene. The deletion was reported to span more than 70 kb [PMID: 2272841]. In a subsequent study, sequence analysis showed that the 5' breakpoint of this deletion was located 1159 bp downstream of the third exon of the Gγ gene. The 3' breakpoint was located 524 bp upstream of an enhancer element (LOC110013311), lying approximately 52.7 kb downstream of the β gene [PMID: 9272169]. The enhancer element is removed in the Chinese (Aγβδ)0-thal deletion [IthaID: 1527].

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 45587
Size: 79.285 kb
Deletion involves: , δ, β, pseudo β, OR51V1, OR52Z1-OR51V1

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δβ-thalassaemia
Allele Phenotype:Gγ(Aγδβ)0
HPFH
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]

Other details

Type of Mutation: Deletion
Ethnic Origin: Thai
Inheritance: Recessive
DNA Breakpoint Determined: Yes

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Fucharoen S, Winichagoon P, Chaicharoen S, Wasi P, Different molecular defects of G gamma (A gamma delta beta)o-thalassaemia in Thailand., Eur. J. Haematol., 39(2), 154-60, 1987 PubMed
  2. Winichagoon P, Fucharoen S, Thonglairoam V, Wasi P, Thai G gamma (A gamma delta beta)zero-thalassemia and its interaction with a single gamma-globin gene on a chromosome carrying beta zero-thalassemia., Hemoglobin, 14(2), 185-97, 1990 PubMed
  3. Kosteas T, Palena A, Anagnou NP, Molecular cloning of the breakpoints of the hereditary persistence of fetal hemoglobin type-6 (HPFH-6) deletion and sequence analysis of the novel juxtaposed region from the 3' end of the beta-globin gene cluster., Human genetics, 100(3), 441-5, 1997 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2019-12-05 11:15:10 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.