Efficacy and side effects of hydroxyurea in patient with thalassemia intermedia

Objective: purpose of this study was to determine the efficacy and possible side effects of hydroxyurea (hu) in patient with thalassemia intermedia and its relation to β-globin gene mutations. study design: non randomized experimental study. study place & duration: the study was undertaken at thalassemia center,sir ganga ram hospital lahore over 3 years period from february,2007 - jan,2010. patients & methods: fifty five patients of thalassemia intermedia with mean age of 8.6 years,comprising of 28 males and 27 females were given hydroxyurea in a single daily dose of 15 mg/kg orally with oral folic acid. twenty nine (53%) were blood transfusion dependent,seventeen (31%) had received 1-2 blood transfusion and nine (16%) were never transfused prior to starting hu. response of drug was evaluated in terms of rise in hemoglobin (g/dl) or a reduction in transfusion requirement. median follow up of patients was 12 months (range 6 -36 months). response criterion was classified into good,partial and no response as below: good response: transfusion independence or hb rise of > 2g/dl. partial response:rise in hb of 1-2 g/dl or reduction in transfusion frequency by 50%. no response: no rise in hb or remained at the same level of transfusion dependency. blood samples were also examined by amplification refractory mutation specific (arms) pcr for common beta-thalassemia mutations and results were correlated with response to hu. mutations in eighteen patients could not be studied due to economic constraint. results: in our study 80% patients showed response to hu. thirty eight (69%) were good responders and six (11%) showed partial response. among good responders,66% had a rise in hemoglobin > 2 g/dl and reduction in spleen size was found in 60.7%. all 38 patients became transfusion independent (100%). only 2 (3.6%) patients complained at nausea,mild abdominal pain and diarrhea. on analysis of beta globin gene mutations in 37 ti patients,five common mutations identified were ivs1-5,cd-30,codon 8/9 (+g),fr 8-9 (+g) and cd 41/42 these constituted 86.4% of total mutations. in our study three patients with good response and one patient with partial response had codon 8/9 (+g) mutation,but none of seven non-responder patients had this mutation. conclusion: hydroxyurea is a safe,well tolerated and affordable drug with minimal side effects for patients with β thalassemia intermedia. patients clinically diagnosed as ti and receiving regular blood transfusions can also be given a trial of hu to minimize or even eliminate the need for regular blood transfusion and concomitant iron over load.