Therapeutic Response to Hydroxyurea in Beta-Thalassemia Intermedia with Rare Mutation: A Case Report.

Abstract

Beta-thalassemia is a hereditary hemoglobinopathy characterized by significant clinical variability, largely influenced by the underlying genetic mutations. We report a 47-year-old female patient with β-thalassemia intermedia harboring a rare homozygous mutation in the β-globin gene promoter: HBB:c.-136C > G (-86 C > G). The patient showed marked clinical response to hydroxyurea therapy with a notable increase in hemoglobin levels, reduction in spleen size and improvement of fatigue and bone pain due to extramedullary hematopoiesis. This report highlights the role of genetic characterization in understanding rare forms of thalassemia and the potential of hydroxyurea as a personalized treatment strategy for patients with unique genetic determinants.