IthaID: 348

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.

Heterozygous records (preview in IthaPhen)

1. 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 PubMed
2. 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 PubMed