IthaID: 349

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 14 TGG>TAG [Trp>STOP] HGVS Name: HBA1:c.44G>A
Hb Name: N/A Protein Info: α1 14(A12) Trp>Stop

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Reported in a heterozygous state in two independent carriers, one person of Lak ethnicity from Lorestan province (MCV 78 fL, MCH 29.4 pg, HbA2 2.8%) and in a cord blood sample from Hormozgan province (Hb 9 g/dL, MCV 85 fL, MCH 27.4 pg, Hb Barts 6.1%).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37623
Size: 1 bp
Located at: α1
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Nonsense codon (Translation)
Ethnic Origin: Iranian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction


Publications / Origin

  1. Harteveld CL, Yavarian M, Zorai A, Quakkelaar ED, van Delft P, Giordano PC, Molecular spectrum of alpha-thalassemia in the Iranian population of Hormozgan: three novel point mutation defects., American journal of hematology, 74(2), 99-103, 2003
  2. Moradi K, Aznab M, Tahmasebi S, Dastafkan Z, Omidniakan L, Ahmadi M, Alibakhshi R, The Spectrum of α-Thalassemia Mutations in the Lak Population of Iran., Hemoglobin, 43(2), 107-111, 2019
Created on 2010-06-16 16:13:15, Last reviewed on 2022-02-28 08:20:11 (Show full history)

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