title: A Japanese Family with Congenital Erythrocytosis Caused by Haemoglobin Bethesda.
abstract: We herein present a case of congenital erythrocytosis caused by haemoglobin (Hb) Bethesda in a Japanese family. A 55-year-old asymptomatic man was referred to our hospital for the investigation of erythrocytosis, which was present in other members of his family. The patient's serum erythropoietin level was normal, and the JAK2 V617F mutation was not detected. His P50 value was mildly decreased, thus we suspected the presence of an Hb variant with a high oxygen affinity. The high-performance liquid chromatography analysis showed an abnormal Hb, and by direct sequencing we identified the Hb Bethesda variant in this patient. For the differential diagnosis, we recommend the estimation of the P50 value as a practical and useful test.
authors.affiliation: Department of Hematology and Oncology, Kinan Hospital, Japan.
authors.forename: Shinobu
authors.initials: S
authors.lastname: Tamura
authors.forename: Tadahiko
authors.initials: T
authors.lastname: Tamura
authors.forename: Hiroya
authors.initials: H
authors.lastname: Gima
authors.forename: Akinori
authors.initials: A
authors.lastname: Nishikawa
authors.forename: Yukiharu
authors.initials: Y
authors.lastname: Okamoto
authors.forename: Nobuo
authors.initials: N
authors.lastname: Kanazawa
authors.forename: Luis
authors.initials: L
authors.lastname: Relvas
authors.forename: Elizabete
authors.initials: E
authors.lastname: Cunha
authors.forename: Mary
authors.initials: M
authors.lastname: Frances McMullin
authors.forename: Celeste
authors.initials: C
authors.lastname: Bento
mesh_terms: D003937:Diagnosis, Differential; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011086:Polycythemia / Q000097:blood / Q000151:congenital* / Q000175:diagnosis
chemical_list: D006455:Hemoglobins, Abnormal; C050911:hemoglobin Bethesda