IthaID: 3989

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 20 CAC>CTC [His>Leu] HGVS Name: HBA2: c.62A>T
Hb Name: Hb Hebei Protein Info: N/A

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Reported in a heterozygous state in a 34-year-old male with Hb 17.0 g/dL, MCV 84.1 fL, MCH 32.4 pg. No clinical presentation. Hb Hebei and Hb A cannot be separated using capillary 2 Flex Piercing device (Hb A 96.9%, Hb A2 3.1%). HPLC display a high value of P3 peak on the D100 instrument.

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: 33837
Size: 1 bp
Located at: α2
Specific Location: Exon 1

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

Sequence Viewer

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Publications / Origin

  1. Li WB, Zheng LH, Li YQ, Hb Hebei [α20 (B1) His→Leu; :C.62A > T]: A Novel Hemoglobin Variant Found during Measurement of Glycated Hemoglobin., Hemoglobin, 2024 PubMed


1Li, Youqiong2022-11-29First report.
Created on 2022-12-07 14:00:21, Last reviewed on 2024-02-22 13:22:04 (Show full history)

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