title: Response to hydroxyurea in beta thalassemia major and intermedia: experience in western India.
abstract: BACKGROUND
  The clinical and hematological response to hydroxyurea was evaluated in beta thalassemia patients in western India with variable clinical severity and correlated with genetic factors.
  
  
  METHODS
  Seventy-nine patients-[38-beta thalassemia intermedia-(group I), 41-beta thalassemia major-(group II)] on hydroxyurea therapy were followed-up for 20-24months.
  
  
  RESULTS
  Among the frequently transfused patients in group I, 58% became transfusion independent and 16% showed a 50% reduction in transfusions after therapy which correlated with a higher mean fold increase in HbF and gamma mRNA expression levels. Forty-one percent of patients in group I had associated alpha-thalassemia and 72.7% were XmnI (+/+). beta thalassemia chromosomes among the responders of group I (41%) were linked to haplotype (- + + - + + - - +) as against haplotype (+ - - - - - - - +) being more common among the non-responders. Response was not linked to the beta thalassemia mutations. Thirty-two percent of group II patients showed a 50% reduction in their transfusion requirements after therapy which also correlated with a higher mean fold increase in HbF and gamma mRNA expression levels. A significant decrease in serum ferritin was seen in both groups. 19% of patients could not tolerate the drug.
  
  
  CONCLUSIONS
  In group I, clinical response to hydroxyurea was better in patients with alpha-thalassemia, XmnI (+/+) and a higher mean fold increase in gamma mRNA expression. In group II, only one-third of patients showed a partial response.
authors: National Institute of Immunohaematology, 13th Floor, K.E.M. Hospital Campus, Parel, Mumbai 400 012, India.
authors: Khushnooma Y
authors: KY
authors: Italia
authors: Farah J
authors: FJ
authors: Jijina
authors: Rashid
authors: R
authors: Merchant
authors: Sangeeta
authors: S
authors: Panjwani
authors: Anita H
authors: AH
authors: Nadkarni
authors: Pratibha M
authors: PM
authors: Sawant
authors: Sona B
authors: SB
authors: Nair
authors: Kanjaksha
authors: K
authors: Ghosh
authors: Roshan B
authors: RB
authors: Colah
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005319:Fetal Hemoglobin / Q000378:metabolism; D005786:Gene Expression Regulation / Q000187:drug effects; D006239:Haplotypes; D006405:Hematology; D006801:Humans; D006918:Hydroxyurea / Q000494:pharmacology / Q000627:therapeutic use*; D007194:India; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D012091:Repetitive Sequences, Nucleic Acid; D016896:Treatment Outcome; D055815:Young Adult; D017086:beta-Thalassemia / Q000097:blood / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology*
chemical_list: D012333:RNA, Messenger; D005319:Fetal Hemoglobin; D006918:Hydroxyurea