IthaID: 365

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.

Heterozygous records (preview in IthaPhen)

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