Hb Niigata [β1(Na1)Val→Leu] in a Romanian Individual Resulting from Another Nucleotide Substitution than that Found in the Japanese

Abstract

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.

Hemoglobin Lansing (Alpha) [HBA2 CD87 (HIS>GLU) (C>A)] in a Turkish Individual Resulting from Another Nucleotide Substitution

“…Hb Niigata is an alteration of valine to leucine at beta-globin gene codon 1 with a nucleotide change of G>C/T, which was reported in a Japanese and a Romanian. Moradkhani et al named the variant of the Romanian individual Hb Niigata (C) [ 9 , 10 ]. Located in different genes, the Hb Niigata and Hb Lansing variants can be explained by the wobble hypothesis.…”