IthaID: 3360

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 9.7 kb deletion HGVS Name: NG_000006.1:g.32709_42418del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion begins 1067 bp upstream (5') of the translation initiation codon of the HBA2 gene, and extends 4144 bp downstream (3') of the HBA1 gene. It removes the entire HbA1, HbA2 and HBQ genes. The 5' and 3' ends of the breakpoint are located at positions 32708 and 42419, respectively (GRCh37/hg19). Sequences at 32703-32708 and 42419-42424 are identical (CTGCTC). Possibly generated by a site-specific recombination.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: 32709
Size: 9.7 kb
Deletion involves: α2, α1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Lin L, Yang Q, Zhang S, Zuo Y, He S, Xu X, Chen B, Qiu X, Identification of a Novel 9.7 kb Deletion Causing α-Thalassemia in Two Pregnant Women in Southern China., Hemoglobin, 42(3), 209-212, 2018 PubMed
Created on 2019-04-02 12:27:42, Last reviewed on 2019-04-02 12:29:53 (Show full history)

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