IthaID: 3440


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -αMAL3.5 HGVS Name: NG_000006.1:g.32745_36301del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion spans approximately 3.5 kb on the α-globin gene cluster, removing the entire HBA2 gene. The 5' and 3' breakpoints are located at the Y2 and Y1 boxes, respectively, indicating that the deletion likely results from an unequal crossover event between these homologous Y-boxes. It extends from 965 bp upstream to 1728 bp downstream of the HBA2 gene. Detected in a compound heterozygous state with a phenotype of Hb H disease. Initially reported by Hamid et al [DOI https://doi.org/10.4081/thal.2015.467].

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 3.557 kb
Deletion involves: α2

Other details

Type of Mutation: Deletion
Ethnic Origin: Chinese, Malaysian-Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Zhao Y, Lou J, Sun M, Fu Y, Ye W, Li Y, Dai Y, Liu Y, Hb H Disease Results from Compound Heterozygosity of - - and -α in a Chinese Family., Hemoglobin, 43(1), 69-72, 2019
Created on 2019-07-29 13:16:15, Last reviewed on 2019-07-29 13:18:05 (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.