IthaID: 4072

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 58 CAC>AAC [His>Asn] HGVS Name: HBA2:c.175C>A
Hb Name: Hb DG-Nancheng Protein Info: N/A

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: One heterozygous case, presenting with a borderline decreased MCV (80.7 fl) and MCH (26.8 pg), normal haemoglobin pattern by capillary zone electrophoresis (CE) and matrix-assisted laser desorption ionization time of flight (MALDI-TOF) mass spectrometry (MS). One compound heterozygous case with --SEA deletion, presenting with an Hb Bart's level of 17.4% at newborn, and at 5 months with Hb 95 g/L, MCV 67.4 fL, MCH 16 pg, Hb A2 2.4%, Hb F 2.2% and Bart’s 1.9%. MALDI-TOF-MS identified an abnormal α-globin chain at 15103 m/z. The HBA2:c.175C>A variation leads to a replacement of the distal histidine (E7 helical position) with an asparagine, possibly altering the heme pocket. Based on the hematological phenotype of the affected individuals, the abnormal α chain is probably unstable.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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: 34067
Size: 1 bp
Located at: α2
Specific Location: Exon 2

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

In silico pathogenicity prediction

Publications / Origin

To the best of our knowledge, this is unpublished data.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


1Yan, Yan Tizhen2023-09-24First report.
Created on 2023-09-27 17:39:21, Last reviewed on (Show full history)

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