A Japanese Family with Congenital Erythrocytosis Caused by Haemoglobin Bethesda

作者：Tamura Shinobu^*; Tamura Tadahiko; Gima Hiroya; Nishikawa Akinori; Okamoto Yukiharu; Kanazawa Nobuo; Relvas Luis; Cunha Elizabete; McMullin Mary Frances; Bento Celeste

来源：Internal Medicine, 2015, 54(18): 2389-2393.

DOI：10.2169/internalmedicine.54.4520

• haemoglobin Bethesda
• high oxygen affinity haemoglobin variant
• congenital erythrocytosis
• P50

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.

• 出版日期2015