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Related Experiment Videos

[Hemoglobinopathy in Japan: detection and analysis].

T Harano1

  • 1Department of Biochemistry, Kawasaki Medical School, Kurashiki.

Rinsho Byori. the Japanese Journal of Clinical Pathology
|May 6, 1999
PubMed
Summary

This study identified 1,227 abnormal hemoglobin (Hb) cases in Japan using isoelectric focusing and glyco-high-performance liquid chromatography (HPLC). Common variants include Hb J-Cape Town and Hb Riyadh, with alpha- and beta-thalassemias also frequently detected.

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Area of Science:

  • Hematology
  • Medical Genetics
  • Biochemistry

Background:

  • Systematic surveys for abnormal hemoglobins (Hbs) are crucial for understanding genetic blood disorders.
  • Isoelectric focusing and glyco-high-performance liquid chromatography (HPLC) are key diagnostic tools.
  • Identifying Hb variants aids in diagnosing and managing conditions like diabetes mellitus and hemolytic anemia.

Purpose of the Study:

  • To report the findings of large-scale abnormal hemoglobin surveys in Japan.
  • To identify common and significant hemoglobin variants and thalassemias in the Japanese population.
  • To highlight the utility of advanced analytical methods in hemoglobinopathy detection.

Main Methods:

  • Systematic screening of over 300,000 individuals using isoelectric focusing.
  • Utilizing glyco-HPLC for HbA1c level determination and abnormal Hb detection, particularly in diabetes screening.
  • Employing protein chemistry and DNA analysis for precise identification and characterization of identified Hbs and thalassemias.

Main Results:

  • 128 abnormal Hbs identified in the initial survey (1 per 2,350 individuals).
  • A total of 1,227 abnormal Hb cases detected using both isoelectric focusing and glyco-HPLC.
  • Common variants include Hb J-Cape Town (alpha-chain) and Hb Riyadh (beta-chain); alpha- and beta-thalassemias frequently identified.
  • Homozygous states for several Hb variants and carriers of unstable Hbs causing hemolytic anemia were found.

Conclusions:

  • Abnormal hemoglobin variants and thalassemias are present in the Japanese population at significant frequencies.
  • Integrated screening approaches combining isoelectric focusing and glyco-HPLC are effective for detecting a wide range of hemoglobinopathies.
  • Molecular and genetic analyses are essential for definitive diagnosis and understanding the molecular basis of these conditions.

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