A family with dominant-phenotype β-thalassemia

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  • NAKAMORI Yoshitaka
    Division of Hematology, Department of Medicine, Yamaguchi Prefecture Central Hospital
  • FUKUDA Naofumi
    Division of Hematology, Department of Medicine, Yamaguchi Prefecture Central Hospital
  • SHINOHARA Kenji
    Division of Hematology, Department of Medicine, Yamaguchi Prefecture Central Hospital
  • HATTORI Yukio
    Yamaguchi University School of Medicine, Faculty of Health Sciences

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Other Title
  • ドミナント型β-サラセミアの一家系
  • 症例 ドミナント型β-サラセミアの一家系
  • ショウレイ ドミナントガタ ベータ サラセミア ノ イチカケイ

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Description

We report a 43-year-old Japanese woman with microcytic and hypochromic anemia, who had been erroneously diagnosed as having iron deficiency anemia 20 years previously at the time of her first labor, and treated with iron and blood transfusion. At the present visit to our clinic, she was found to have an increased HbA2 level and prolonged glycerol lysis time. Genetic analysis of the β-globin gene revealed deletion of 3 bases at codons 127/128 (CAG/GCT→CCT). A genetic study of the patient's family showed that two of her four children possessed the same mutation. The patient had mild anemia, her first son had very mild anemia, and her second daughter had moderate anemia with hemolysis. These affected family members were diagnosed as having dominant-phenotype β-thalassemia.

Journal

  • Rinsho Ketsueki

    Rinsho Ketsueki 43 (3), 194-198, 2002

    The Japanese Society of Hematology

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