IthaID: 3788

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 65 GCG>CCG [Ala>Pro] HGVS Name: HBA1:c.196G>C
Hb Name: Hb Maruchi Protein Info: α1 65(E14) Ala>Pro

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in a 37-year-old Spanish male presented with microcytosis. The new variant cannot be separated from Hb A by electrophoretic and chromatographic techniques and causes α-thalassemia silent associated with a very mild phenotype. Hb Maruchi is a new silent variant and authors believe that it is a hyperunstable protein.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α⁺
Silent Hb
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37892
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Paloma Ropero, Jorge M Nieto, Fernando-Ataúlfo González Fernández, Ana Villegas, Celina Benavente, Hb Maruchi [α165 (E14) Ala>Pro; HBA1: c.196G>C]: A new thalassemia hemoglobinopathy related to the alpha1 globin gene, Clin Biochem, 2021 PubMed
Created on 2021-05-12 20:31:35, Last reviewed on 2021-05-14 10:04:51 (Show full history)

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