IthaID: 2555


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: α12 HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as: HBA2 gene conversion

Comments: The majority of individuals who were positive for the α12 allele had a reduction in the percentage of HbA2. The α12 allele was found in compound heterozygosity with --SEA [IthaID: 309] and Hb Quong Sze [IthaID: 408].

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
Fusion involves: α2, α1

Other details

Type of Mutation: Fusion
Ethnic Origin: Saudi Arabian, Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Borgio JF, AbdulAzeez S, Al-Nafie AN, Naserullah ZA, Al-Jarrash S, Al-Madan MS, Al-Muhanna F, Steinberg MH, Al-Ali AK, A novel HBA2 gene conversion in cis or trans: , Blood Cells Mol. Dis. , 53(4), 199-203, 2014
  2. Luo SQ, Chen XY, Tang N, Huang J, Zhong QY, Cai R, Yan TZ, Pedigree Analysis of Nonhomologous Sequence Recombination of and Genes., Hemoglobin, 44(5), 329-333, 2020
Created on 2015-06-16 16:54:03, Last reviewed on 2020-12-23 12:43:46 (Show full history)

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