Frequency and distribution of structural variants of hemoglobin and thalassemic states in western Japan

T. Imamura, J. Sugihara, T. Matsuo, T. Maruyama, Y. Ohta, I. Sunrida, K. Yamaoka, T. Yanase

研究成果: Contribution to journalArticle査読

11 被引用数 (Scopus)

抄録

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.

本文言語英語
ページ(範囲)409-415
ページ数7
ジャーナルHemoglobin
4
3-4
DOI
出版ステータス出版済み - 1980

All Science Journal Classification (ASJC) codes

  • 血液学
  • 遺伝学(臨床)
  • 臨床生化学
  • 生化学、医学

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