Dominant beta-thalassemia with hemoglobin Hradec Kralove: enhanced hemolysis in the spleen.

Abstract

We describe a 6-year-old girl and her mother with dominant beta-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 beta-globin codon 115 (Hb Madrid and Hb HK), 5 underwent splenectomy. Because of the variable augmentation of extramedullary hemolysis in dominant beta-thalassemias, genotyping is necessary for determining the clinical indication of splenectomy.

• Authors: Shouichi Ohga, Akihiko Nomura, Hidetoshi Takada, Junko Kato, Hiroshi Ideguchi, Yukio Hattori, Masahiro Suda, Sachiyo Suita, Toshiro Hara
• Journal: International journal of hematology (Int J Hematol) Vol. 78 Issue 4 Pg. 329-34 (Nov 2003) ISSN: 0925-5710 [Print] Japan
• PMID: 14686490 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Hradec Kralove

Topics

• Adult
• Anemia, Hemolytic (genetics)
• Child
• Family Health
• Female
• Hemoglobins, Abnormal (genetics, physiology)
• Hemolysis (genetics)
• Humans
• Osmotic Fragility
• Spleen (pathology, surgery)
• Splenectomy
• beta-Thalassemia (blood, genetics)