IthaID: 3572

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 90‐92 (-8bp): (‐AGCTTCGG) HGVS Name: HBA2:c.272_279delAGCTTCGG
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Also known as:

Comments: Reported in trans with the southeast Asian type deletion α-thalassemia (--SEA) in two Chinese probands affected with hemoglobin H disease. Also found in a heterozygous and a homozygous state in family members of these probands. The deletion was detected by NGS and CE, and confirmed by gap-PCR and sequencing analysis.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34164
Size: 8 bp
Located at: α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Li Y, Liang L, Tian M, Qin T, Wu X, Detection of Hb H disease caused by a novel mutation and -- deletion using capillary electrophoresis., J. Clin. Lab. Anal., 33(7), e22949, 2019 PubMed
  2. Lyu J, Mo X, Li X, [Genetic testing and pedigree analysis for a case with intermediate α-thalassemia[--/αα]]., Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 39(12), 1398-1401, 2022 PubMed
Created on 2020-02-19 17:37:49, Last reviewed on 2023-01-11 14:49:36 (Show full history)

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