Hemoglobin Pitie-Salpetriere [beta 34 (B16) Val -> Phe] showing erythrocytosis and mild hemolysis in a Japanese man

We report the first case of Hemoglobin Pitie-Salpetriere (Hb P-S) identifie d among the Japanese population. The patient was a 33-year-old man referred to us because of severe erythrocytosis and mild hemolysis. DEAE high-perfo rmance liquid chromatography showed an abnormal broad peak around Hb A2 pea k. Isoelectrofocusing detected abnormal Hb at the position of the Hb F band , and the content of abnormal Hb was estimated at about 25%. An instability test according to the iso propanol precipitation method was positive, and the beta/alpha ratio of biosynthesized globin was slightly reduced. Structu ral analyses demonstrated the substitution of phenylalanine for valine at b eta 34, which was also confirmed by DNA sequencing; that is a single base s ubstitution of GTC-->TTC at codon 34 of beta chain. From these findings, th e abnormal Hb was identified as being a high-oxygen-affinity variant, Hb P- S (beta 34 [B16] Val-->Phe). Hb P-S was detected in the patient's mother bu t not in his father, suggesting that the inheritance pattern is autosomal d ominant. It was suggested that the slightly unstable state of Hb P-S caused by the looseness of alpha 1 beta 1 contact could result in mild hemolysis. Int J Hematol. 2000;71:221-226 (C) 2000 The Japanese Society of Hematology .