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

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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Correspondence to Shouichi Ohga or Akihiko Nomura or Hidetoshi Takada or Junko Kato or Hiroshi Ideguchi or Yukio Hattori or Masahiro Suda or Sachiyo Suita or Toshiro Hara.

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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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Key words

  • Dominant β-thalassemia
  • Hemoglobin Hradec Kralove
  • Red cell fragility
  • Splenectomy