Alpha thalassemia in a Symptomatic Carrier of Familial Mediterranean Fever

Abstract

Alpha thalassemia and Familial Mediterranean Fever (FMF) are two diseases that affect the same societies native to the Mediterranean basin and have overlapping genetic localizations. Deletions resulting in alpha thalassemia have the potential to affect the neighboring MEFV gene (MEFV) and to lead to symptoms in FMF carriers. We herein present a symptomatic FMF carrier with coexistence of these two genetic diseases. This report may provide a simple explanation for an age-old mystery of how FMF can occur with a single mutation.