Response to hydroxyurea in beta thalassemia major and intermedia: experience in western India.
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.
Italia
Khushnooma Y
KY
National Institute of Immunohaematology, 13th Floor, K.E.M. Hospital Campus, Parel, Mumbai 400 012, India.
Jijina
Farah J
FJ
Merchant
Rashid
R
Panjwani
Sangeeta
S
Nadkarni
Anita H
AH
Sawant
Pratibha M
PM
Nair
Sona B
SB
Ghosh
Kanjaksha
K
Colah
Roshan B
RB
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*
D012333:RNA, Messenger; D005319:Fetal Hemoglobin; D006918:Hydroxyurea