Hemoglobin Pitié-Salpétrière [beta 34 (B16) Val-->Phe] showing erythrocytosis and mild hemolysis in a Japanese man.
We report the first case of Hemoglobin Pitié-Salpétrière (Hb P-S) identified among the Japanese population. The patient was a 33-year-old man referred to us because of severe erythrocytosis and mild hemolysis. DEAE high-performance liquid chromatography showed an abnormal broad peak around Hb A2 peak. 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 isopropanol precipitation method was positive, and the beta/alpha ratio of biosynthesized globin was slightly reduced. Structural analyses demonstrated the substitution of phenylalanine for valine at beta 34, which was also confirmed by DNA sequencing; that is a single base substitution of GTC-->TTC at codon 34 of beta chain. From these findings, the 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 but not in his father, suggesting that the inheritance pattern is autosomal dominant. 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.
Uchida
T
T
First Department of Internal Medicine, Nagoya University School of Medicine, Japan. tuchida@nagoya2.jrc.or.jp
Kinoshita
T
T
Hirabayashi
N
N
Saito
H
H
Harano
K
K
Harano
T
T
D000328:Adult; D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics*; D006461:Hemolysis / Q000235:genetics; D006801:Humans; D007564:Japan; D008297:Male; D017354:Point Mutation; D011086:Polycythemia / Q000235:genetics
D006455:Hemoglobins, Abnormal; C032380:hemoglobin Pitie Salpetriere