IthaID: 3748

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 124 TCC>ACC [Ser>Thr] HGVS Name: HBA2:c.373T>A
Hb Name: Hb Huaduo Protein Info: α2 124(H7) Ser>Thr

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in compound heterozygosity with the CD 41/42 (-CTTT) [IthaID: 147] in a 36-year old Chinese male presented with microcytosis MCV 59.4 fL, decreased MCH 18.8 pg, Hb 14.1 g/dL and RBC 7.52×1012/L. Capillary electrophoresis shown that HbX and HbA are not completely separated but double peaks are visible with the capillary 2 Flex Piercing device. The electrophoresis position of HbX and HbX-A2 is located at Z10-Z9 and Z2 zone respectively and the hemoglobin levels were HbX-HbA 94.1 %, HbX-HbA2 0.7 %, HbF 0 %, HbA2 5.2 %.

External Links

No available links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34407
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

To the best of our knowledge, this is unpublished data.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


1Li, Youqiong2021-02-24First report.
Created on 2021-02-24 14:21:18, Last reviewed on 2021-02-24 14:23:08 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.