TY - JOUR
T1 - Dominant β-Thalassemia with Hemoglobin Hradec Kralove
T2 - Enhanced Hemolysis in the Spleen
AU - Ohga, Shouichi
AU - Nomura, Akihiko
AU - Takada, Hidetoshi
AU - Kato, Junko
AU - Ideguchi, Hiroshi
AU - Hattori, Yukio
AU - Suda, Masahiro
AU - Suita, Sachiyo
AU - Hara, Toshiro
N1 - Funding Information:
This work was supported in part by a grant-in-aid for Scientific Research (C) to S. Ohga from the Ministry of Education, Science, Sports and Culture of Japan. We thank Prof. Y. Fukumaki (Institute of Genetic Information, Kyushu University, Fukuoka) for performing the genetic analysis of some control subjects.
PY - 2003/11
Y1 - 2003/11
N2 - 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.
AB - 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.
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U2 - 10.1007/BF02983557
DO - 10.1007/BF02983557
M3 - Article
C2 - 14686490
AN - SCOPUS:0348110646
SN - 0925-5710
VL - 78
SP - 329
EP - 334
JO - International Journal of Hematology
JF - International Journal of Hematology
IS - 4
ER -