A new Frameshift mutation on the α2-globin gene causing α⁺-thalassemia: codon 43 (TTC>-TC or TTC>T-C).
We report a new mutation on the α2-globin gene causing α(+)-thalassemia (α(+)-thal) with a deletion of a single nucleotide (T) at amino acid residue 43 [HBA2:c.130delT or HBA2:c.131delT]. This frameshift deletion gives rise to a premature termination codon at codon 47.
Unité de Pathologie Moléculaire du Globule Rouge, Hôpital Edouard Herriot, Lyon, France.
Philippe
P
Joly
Philippe
P
Lacan
Caroline
C
Garcia
Claire
C
Barro
Alain
A
Francina
D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon; D016368:Frameshift Mutation; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D055542:alpha-Globins / Q000737:chemistry / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics*
D003062:Codon; D055542:alpha-Globins