Hb Niigata [beta1(NA1)Val-->Leu] in a Romanian individual resulting from another nucleotide substitution than that found in the Japanese.
We present a new case of Hb Niigata that we named Hb Niigata(C), observed in a woman from Romania, with a mutation different from that described in Japanese (GTG-->CTG instead of GTG-->TTG). This single nucleotide substitution replaces the valine residue for leucine at codon 1 and causes retention of the N-terminal methionine leading to an elongated beta chain. This mutation was without any hematological consequences.
Moradkhani
Kamran
K
Biochimie Génétique, AP-HP, Hôpital Henri Mondor, Créteil, France.
Henthorn
Joan
J
Riou
Jean
J
Phelan
Lorraine
L
Préhu
Claude
C
Wajcman
Henri
H
D000328:Adult; D001483:Base Sequence; D005260:Female; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D010641:Phenotype; D017354:Point Mutation; D012383:Romania; D017422:Sequence Analysis, DNA; D017086:beta-Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D005914:Globins