TY - JOUR
T1 - Frequency and distribution of structural variants of hemoglobin and thalassemic states in western Japan
AU - Imamura, T.
AU - Sugihara, J.
AU - Matsuo, T.
AU - Maruyama, T.
AU - Ohta, Y.
AU - Sunrida, I.
AU - Yamaoka, K.
AU - Yanase, T.
N1 - Funding Information:
Authors wish to thank Drs. M. Hanada, M. Seita, I. Ohya, and J. Sasaki for their important contributions to this project as the past associates, Miss Y. Okazaki for her excellent technical help, and Dr. H. B. Hamilton, Radiation Effects Research Foundation, for his helpful suggestions in the preparation of the manuscript. This work was supported by grants from the Ministry of Education.
PY - 1980
Y1 - 1980
N2 - Hemolysates from 100,000 people who visited the Kyushu University Hospital and affiliated hospitals during the past 15 years were screened for hemoglobinopathies using electrophoresis on thin-layer starch gel; those exhibiting an abnormality were characterized further on clinical, biochemical, and genetic grounds. Of about 97,000 adult and 3,140 cord blood samples, 29 contained electropho-retically detectable abnormalities in the heterozygous condition. Another 17 samples had quantitative changes in the levels of the minor hemoglobin components. Of the thalassemic conditions, 12 involved βthalassemia, 3 αthalassemia, 1 δbeta;thalassemia, and l δthalassemia. Among 45 carriers of βthalassemia from 12 families, 5 were noted to have thalassemia intermedia since they exhibited much more severe hemolytic syndromes than those with typical βtha-lassemia minor. The frequency with which we could detect a structural variant of Hb A in the adults by electrophoresis was one in 3,800 samples. About one in 8,000 carried a βthalassemia gene.
AB - Hemolysates from 100,000 people who visited the Kyushu University Hospital and affiliated hospitals during the past 15 years were screened for hemoglobinopathies using electrophoresis on thin-layer starch gel; those exhibiting an abnormality were characterized further on clinical, biochemical, and genetic grounds. Of about 97,000 adult and 3,140 cord blood samples, 29 contained electropho-retically detectable abnormalities in the heterozygous condition. Another 17 samples had quantitative changes in the levels of the minor hemoglobin components. Of the thalassemic conditions, 12 involved βthalassemia, 3 αthalassemia, 1 δbeta;thalassemia, and l δthalassemia. Among 45 carriers of βthalassemia from 12 families, 5 were noted to have thalassemia intermedia since they exhibited much more severe hemolytic syndromes than those with typical βtha-lassemia minor. The frequency with which we could detect a structural variant of Hb A in the adults by electrophoresis was one in 3,800 samples. About one in 8,000 carried a βthalassemia gene.
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U2 - 10.3109/03630268008996221
DO - 10.3109/03630268008996221
M3 - Article
C2 - 7419430
AN - SCOPUS:0018930806
SN - 0363-0269
VL - 4
SP - 409
EP - 415
JO - Hemoglobin
JF - Hemoglobin
IS - 3-4
ER -