Hemoglobin Bethesda Causing Polycythemia in a Japanese Family

Issei KAWASHIMA; Koichiro ARIMA; Tetsuya HANADA; Teruo HARANO; Keiichi HARADA; Yasuo MATSUOKA; Shoichiro IRIMAJIRI

doi:10.2169/internalmedicine.33.242

Issei KAWASHIMA, Koichiro ARIMA, Tetsuya HANADA, Teruo HARANO, Keiichi HARADA, Yasuo MATSUOKA, Shoichiro IRIMAJIRI

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Keywords: polycythemia, hemoglobinopathy

JOURNAL FREE ACCESS

1994 Volume 33 Issue 4 Pages 242-247

DOI https://doi.org/10.2169/internalmedicine.33.242

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Abstract

A family with Hemoglobin Bethesda is reported. A 23-year-old man was hospitalized for the evaluation of polycythemia. Analysis of hemoglobin using high pressure liquid chromatography showed the presence of hemoglobinopathy. Separation of globin into α and β chains revealed approximately 50% of the β chain to be abnormal. Analysis of the DNA sequence of the β chain gene identified Hb Bethesda. The family study disclosed that his father and sister also had the same hemoglobinopathy. This case is the first report of Hb Bethesda in Japan.
(Internal Medicine 33: 242-247, 1994)

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