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.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | N/A |
Location
| 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
Publications / Origin
- Rieder RF, Woodbury DH, Rucknagel DL, The interaction of alpha-thalassaemia and haemoglobin G Philadelphia., Br J Haematol, 32(2), 159-65, 1976
- 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
- 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
- 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