Dominant beta-thalassemia with hemoglobin Hradec Kralove: enhanced hemolysis in the spleen.
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.
Ohga
Shouichi
S
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. ohgas@pediatr.med.kyushu-u.ac.jp
Nomura
Akihiko
A
Takada
Hidetoshi
H
Kato
Junko
J
Ideguchi
Hiroshi
H
Hattori
Yukio
Y
Suda
Masahiro
M
Suita
Sachiyo
S
Hara
Toshiro
T
D000328:Adult; D000743:Anemia, Hemolytic / Q000235:genetics; D002648:Child; D005192:Family Health; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics / Q000502:physiology*; D006461:Hemolysis / Q000235:genetics*; D006801:Humans; D009996:Osmotic Fragility; D013154:Spleen / Q000473:pathology* / Q000601:surgery; D013156:Splenectomy; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C083888:hemoglobin Hradec Kralove