Italia, KhushnoomaJijina, FarahMerchant, RashidSwaminathan, SuchitraNadkarni, AnitaGupta, MayaGhosh, KanjakshaColah, Roshan2013-11-202013-11-202013-04Italia Khushnooma, Jijina Farah, Merchant Rashid, Swaminathan Suchitra, Nadkarni Anita, Gupta Maya, Ghosh Kanjaksha, Colah Roshan. Comparison of in-vitro and in-vivo response to fetal hemoglobin production and γ-mRNA expression by hydroxyurea in Hemoglobinopathies. Indian Journal of Human Genetics. 2013 Apr; 19(2): 251-258.http://imsear.searo.who.int/handle/123456789/149437BACKGROUND: Hydroxyurea, which induces Fetal hemoglobin (HbF) synthesis, is the only drug widely used in different hemoglobinopathies; however, the response is very variable. We compared the efficacy of hydroxyurea in-vitro in erythroid cultures and in-vivo in the same patients with different hemoglobinopathies to induce HbF production and enhance γ-messenger RNA expression. MATERIALS AND METHODS: A total of 24-patients with different Hemoglobinopathies were given hydroxyurea and their response was studied in-vivo and in-vitro on mononuclear cells collected from them simultaneously. RESULTS: A total of 57.7% of patients (responders) showed no further crisis or transfusion requirements after hydroxyurea therapy with a mean increase in fetal cells (F-cells) of 63.8 ± 59.1% and γ-mRNA expression of 205.5 ± 120.8%. In-vitro results also showed a mean increase in F-cells of 27.2 ± 24.7% and γ-mRNA expression of 119.6% ± 65.4% among the treated cells. Nearly 19.0% of the partial-responders reduced their transfusion requirements by 50% with a mean increase in F-cells of 61.2 ± 25.0% and 28.4 ± 25.3% and γ-mRNA-expression of 21.0% ± 1.4% and 80.0% ± 14.1% in-vivo and in-vitro respectively. The non-responders (15.3%) showed no change in their clinical status and there was no significant increase in F-cells levels and γ-mRNA expression in-vivo or in-vitro. CONCLUSION: Thus, this method may help to predict the in-vivo response to hydroxyurea therapy; however, a much larger study is required.en2 phase liquid erythroid cell culturehydroxyureasickle cell diseaseβ-thalassemia syndromesγ-mRNA expressionAnemia, Sickle Cell --geneticsAdolescentAdultCells, CulturedChildChild, PreschoolErythroid Precursor Cells --metabolismFemaleFetal Hemoglobin --analysisFetal Hemoglobin --biosynthesisFetal Hemoglobin --geneticsHemoglobinopathiesHydroxyurea --pharmacologyHumansIndiaMaleMiddle AgedRNA, Messenger --geneticsbeta-Thalassemia --epidemiologybeta-Thalassemia --geneticsYoung AdultArticle