Hydroxyurea-induced hematological response in transfusion-independent beta-thalassemia intermedia: case series and review of literature.
BACKGROUND
Hydroxyurea (HU) may improve the symptoms in thalassemia patients by increasing gamma-globin chain expression. However, the efficacy of HU in beta-thalassemia intermedia (TI) is unclear.


METHODS
The authors treated 16 transfusion-independent TI patients (8 males) aged 10.7 +/- 5.0 years with HU, 20 mg/kg/day 4 days per week, for 6 months. Hemoglobin (Hb) and HbF levels were measured prior to treatment, during the treatment period (monthly), and following the completion of treatment. Mutations in the beta-globin gene as well as the XmnI polymorphism were determined.


RESULTS
Treatment was well tolerated. There was a significant increase in both Hb and HbF (p < .001), and the increments were strongly correlated (r = .94; p < .001). XmnI polymorphism was not correlated with hematological response. Hb (p = .026) and HbF (p = .046) showed a more significant rise in patients with a Fr8/9 allele than those with one or two IVS-II-1 alleles.


CONCLUSIONS
HU therapy was associated with a significant hematological response in our TI patients. The Fr8/9 mutation, but not the XmnI polymorphism, was a predictor of good hematological response. Studies with larger sample sizes are needed to confirm the results obtained in this study.
Ehsani
Mohammad Ali
MA
Bahrami Children Hospital, Tehran University of Medical Sciences, Tehran, Iran. ehsanimo@sina.tums.ac.ir
Hedayati-Asl
Amir Abbas
AA
Bagheri
Alireza
A
Zeinali
Syrus
S
Rashidi
Armin
A
D000293:Adolescent; D001803:Blood Transfusion; D002648:Child; D002675:Child, Preschool; D016903:Drug Monitoring / Q000379:methods; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D006454:Hemoglobins / Q000032:analysis; D006801:Humans; D006918:Hydroxyurea / Q000627:therapeutic use*; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D012074:Remission Induction; D055544:beta-Globins / Q000235:genetics; D017086:beta-Thalassemia / Q000188:drug therapy* / Q000235:genetics / Q000628:therapy
D006454:Hemoglobins; D055544:beta-Globins; D005319:Fetal Hemoglobin; D006918:Hydroxyurea