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Dominant β-Thalassemia with Hemoglobin Hradec Kralove: Enhanced Hemolysis in the Spleen

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Abstract

We describe a 6-year-old girl and her mother with dominant β-thalassemia due to hemoglobin Hradec Kralove (Hb HK). Both patients presented microcytic anemia, jaundice, splenomegaly, cholelithiasis, and recurrent hemolytic bouts. Osmotic resistance tests using saline and coiled planet centrifugation revealed the increased fragility of the red cell membrane. On the other hand, the glycerol lysing time was prolonged, and results of the isopropanol test were weakly positive. Despite mimicking the features of hereditary spherocytosis, the results of the genetic analyses verified the second reported family with Hb HK (codon 115,\(G\underset{\raise0.3em\hbox{$\smash{\scriptscriptstyle-}$}}{C} C[Ala] \to G\underset{\raise0.3em\hbox{$\smash{\scriptscriptstyle-}$}}{A} C[Asp]\)). Splenectomy was effective for the amelioration of hemolysis. Of 7 reported patients with Hb variants at β-globin codon 115 (Hb Madrid and Hb HK), 5 underwent splenectomy. Because of the variable augmentation of extramedullary hemolysis in dominant β-thalassemias, genotyping is necessary for determining the clinical indication of splenectomy.

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Authors and Affiliations

  1. Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, 812-8582, Fukuoka, Japan

    Shouichi Ohga, Akihiko Nomura, Hidetoshi Takada & Toshiro Hara

  2. Department of Pediatric Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka

    Sachiyo Suita

  3. Division of Clinical Laboratories, Graduate School of Medical Sciences, Kyushu University, Fukuoka

    Masahiro Suda

  4. Department of Laboratory Medicine, Fukuoka University, Fukuoka

    Junko Kato & Hiroshi Ideguchi

  5. Division of Clinical Laboratory Sciences, Faculty of Health Sciences, Yamaguchi University School of Medicine, Yamaguchi, Japan

    Yukio Hattori

Authors
  1. Shouichi Ohga
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  2. Akihiko Nomura
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  3. Hidetoshi Takada
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  4. Junko Kato
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  5. Hiroshi Ideguchi
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  6. Yukio Hattori
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  7. Masahiro Suda
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  8. Sachiyo Suita
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  9. Toshiro Hara
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Correspondence to Shouichi Ohga.

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Ohga, S., Nomura, A., Takada, H. et al. Dominant β-Thalassemia with Hemoglobin Hradec Kralove: Enhanced Hemolysis in the Spleen. Int J Hematol 78, 329–334 (2003). https://doi.org/10.1007/BF02983557

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  • DOI: https://doi.org/10.1007/BF02983557

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