IthaID: 365

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 31 AGG>--G HGVS Name: HBA2:c.94_95del
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Also known as:

Comments: Found in cis with -α3.7 [IthaD:300] in an American Black male presented with mild hypochromic microcytic anaemia consistent with α-thalassaemia trait. The 2 bp deletion in the context of a −α3.7 thalassaemia chromosome reported in association with Hb G-Philadelphia [IthaID:596] in his mother presented with the typical phenotype of Hb H disease.

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: 33869
Size: 2 bp
Located at: α2
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: American Black
Molecular mechanism: Altered α1β1 interface
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Rieder RF, Woodbury DH, Rucknagel DL, The interaction of alpha-thalassaemia and haemoglobin G Philadelphia., Br J Haematol, 32(2), 159-65, 1976 PubMed
  2. Sancar GB, Tatsis B, Cedeno MM, Rieder RF, Proportion of hemoglobin G Philadelphia (alpha 268 Asn leads to Lys beta 2) in heterozygotes is determined by alpha-globin gene deletions., Proc Natl Acad Sci U S A, 77(11), 6874-8, 1980 PubMed
  3. Safaya S, Rieder RF, Dysfunctional alpha-globin gene in hemoglobin H disease in blacks. A dinucleotide deletion produces a frameshift and a termination codon., The Journal of biological chemistry, 263(9), 4328-32, 1988 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2022-02-25 18:10:26 (Show full history)

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