Hemoglobin Bethesda causing polycythemia in a Japanese family.
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 alpha and beta chains revealed approximately 50% of the beta chain to be abnormal. Analysis of the DNA sequence of the beta 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.
Kawashima
I
I
Department of Internal Medicine, Kawasaki Municipal Hospital.
Arima
K
K
Hanada
T
T
Harano
T
T
Harada
K
K
Matsuoka
Y
Y
Irimajiri
S
S
D000328:Adult; D000596:Amino Acids / Q000032:analysis; D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid; D004591:Electrophoresis, Polyacrylamide Gel; D004912:Erythrocytes / Q000378:metabolism; D005260:Female; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000737:chemistry / Q000235:genetics; D006801:Humans; D007564:Japan; D008297:Male; D008969:Molecular Sequence Data; D010100:Oxygen / Q000097:blood; D010108:Oxyhemoglobins / Q000378:metabolism; D011086:Polycythemia / Q000097:blood* / Q000235:genetics; D017422:Sequence Analysis, DNA
D000596:Amino Acids; D006455:Hemoglobins, Abnormal; D010108:Oxyhemoglobins; C050911:hemoglobin Bethesda; D010100:Oxygen