IthaID: 3738

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: IVS II-141 T>C HGVS Name: HBA1:c.301-9T>C
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Also known as:

Comments: Found in a 17-year old Indian individual presented with Hb 10.7 g/dL, MCV 68.5 fL, MCH 21.8 pg, RBC 4.92 10^12/L, HbA1/HbE 2.2 % and normal level of HbF and HbA. Co-inheritance of the IVS II-141 T>C with CAP +1 (A>C) [IthaID: 34] reported in a 2nd case, in a 79-year old Malay male in compound heterozygosity presented with Hb 12.6 g/dL, MCV 85 fL, MCH 29.4 pg, RBC 4.28 10^12/L and borderline HbA2 level.

External Links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 38137
Size: 1 bp
Located at: α1
Specific Location: Intron 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Indian, Malay
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!


1Mohd Yasin, Norafiza 2020-11-24First report.
Created on 2021-02-12 14:22:52, Last reviewed on 2021-05-14 15:43:44 (Show full history)

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