IthaID: 4010



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: αααα(anti-3.7) HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Identified by third-generation sequencing (CATSA) in Han ethnic individuals in Hainan Province. Heterozygosity for this α gene defect associated with moderate anemia in the presence of a normal β genotype, and with thalassemia intermedia in the presence of a β mutant allele.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:N/A
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: N/A
Located at: α2, α1

Other details

Type of Mutation: Duplication
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. Huang R, Liu Y, Xu J, Lin D, Mao A, Yang L, Zhong G, Wang H, Xu R, Chen Y, Zhou Q, Back-to-Back Comparison of Third-Generation Sequencing and Next-Generation Sequencing in Carrier Screening of Thalassemia., Arch Pathol Lab Med, 2023 PubMed
Created on 2023-01-23 15:06:36, Last reviewed on 2023-01-23 15:13:34 (Show full history)

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