IthaID: 365

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -α3.7;CD 31 AGG>--G HGVS Name: NG_000006.1:g.[33869_33870del;34247_38050del]
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The 2 nucleotide deletion c.94_95delAG was found on a chromosome that carries the -3.7 kb deletion (-α3.7) [IthaD:300]. The deletion of 'AG' on codon 31 in exon 1 creates a frameshift and premature truncation of the α-globin protein after 25 amino acids (p.Arg31AspfsX25) at codon 55. The in cis variation presented with mild hypochromic microcytic anaemia consistent with α-thalassaemia trait in the heterozygous state and with HbH disease in the presence of Hb G-Philadelphia [IthaID:596]. HGVS name reports deletion breakpoints in -α3.7 (type I) [IthaID: 300] and should be used with caution.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33869 or 34247
Size: 2 bp or 3.804 kb
Located at: α2, α3.7 hybrid

Other details

Type of Mutation: Combination
Ethnic Origin: American Black
Molecular mechanism: Altered α1β1 interface
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. 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
  4. Zhao P, Buller-Burckle AM, Peng M, Anderson A, Han ZJ, Gallivan MV, Secondary mutation (c.94_95delAG) in a -α3.7 allele associated with Hb H disease in two unrelated African American individuals homozygous for the -α(3.7) deletion (-α3.7/-α3.7T)., Hemoglobin , 36(1), 103-7, 2012 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2024-03-08 10:56:53 (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.