A rare and novel mutation in a beta-globin gene of thalassemia patient of Pakistan: A case report.

Introduction: Thalassemia is a genetically complex disorder that evolves from a mutation in the beta chain of hemoglobin. Much work has been done on the common mutations, but some rare mutations have been found that impact and diversify the disease spectrum.

Case Presentation: Our case report is on a young adult who presented with anemia, gall stones, and off-and-on transfusion dependency.