A Japanese Family with Congenital Erythrocytosis Caused by Haemoglobin Bethesda

Shinobu Tamura, Tadahiko Tamura, Hiroya Gima, Akinori Nishikawa, Yukiharu Okamoto, Nobuo Kanazawa, Luis Relvas, Elizabete Cunha, Mary Frances McMullin, Celeste Bento
2015 Internal medicine (Tokyo. 1992)  
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
more » ... id 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.
doi:10.2169/internalmedicine.54.4520 pmid:26370867 fatcat:hgfqokd7ozgw7khxkujgqbfski