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

Shouichi Ohga, Akihiko Nomura, Hidetoshi Takada, Junko Kato, Hiroshi Ideguchi, Yukio Hattori, Masahiro Suda, Sachiyo Suita, Toshiro Hara

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)

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, GCC [Ala]→GAC [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.

Original languageEnglish
Pages (from-to)329-334
Number of pages6
JournalInternational journal of hematology
Volume78
Issue number4
DOIs
Publication statusPublished - Nov 2003

All Science Journal Classification (ASJC) codes

  • Hematology

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