IthaID: 348
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α3.7;CD 14 TGG>CGG | HGVS Name: | N/A |
| Hb Name: | Hb Evanston | Protein Info: | N/A |
Also known as:
Comments: Initially identified through peptide mapping as an α14 Trp>Arg change, known as Hb Evanston, this variant was linked to an α-globin gene deletion, reported as a rightward-deletion α-thalassemia-2 type [PMID: 6725558]. Another study located Hb Evanston in exon 1 of the HBA1 gene [IthaID: 347] by sequencing methods [PMID: 15481895]. Both studies suggested that Hb Evanston might be in cis with the -α3.7 rightward deletion. Various -α3.7 deletions with different breakpoints are known to exist [SALSA MLPA Probemix P140 HBA]. It remains unclear whether Hb Evanston identified in the initial study occurs in HBA2 or HBA1, and if in HBA1, whether it co-occurs with a -α3.7 deletion having a 3' breakpoint before exon 1 of HBA1.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia, α-chain variant |
| Allele Phenotype: | α0 |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 1 bp |
| Located at: | α1 or α2, α3.7 hybrid |
Other details
| Type of Mutation: | Combination |
|---|---|
| Ethnic Origin: | African, Asian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Honig GR, Shamsuddin M, Vida LN, Mompoint M, Valcourt E, Bowie LJ, Jones EC, Powers PA, Spritz RA, Guis M, Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia., The Journal of clinical investigation, 73(6), 1740-9, 1984
- Harteveld CL, Wijermans PW, de Ree JE, Ter Hal P, Van Delft P, Van Rooijen-Nijdam IH, Rasp E, Kok PJ, Souverijn JH, Versteegh FG, Giordano PC, A new Hb evanston allele [alpha14(A12)Trp --> Arg] found solely, and in the presence of common alpha-thalassemia deletions, in three independent Asian cases., Hemoglobin , 28(1), 1-5, 2004