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

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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:	α⁺
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

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 PubMed
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 PubMed

Created on 2015-06-16 16:54:03, Last reviewed on 2021-11-30 16:02:28 (Show full history)

A/A	Date	Curator(s)	Comments
1	2015-06-16 16:54:03	The IthaGenes Curation Team	Created
2	2020-12-23 12:36:36	The IthaGenes Curation Team	Reviewed. Reference and comment added.
3	2020-12-23 12:43:46	The IthaGenes Curation Team	Reviewed. Origin added.
4	2021-11-30 16:02:28	The IthaGenes Curation Team	Reviewed. Allele phenotype added.

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