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

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

  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 PubMed
  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 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2022-02-28 08:20:11 (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.