and the University of Pennsylvania Perelman School of Medicine pioneered a first of its kind gene therapy model that offers a potential breakthrough in treating X-linked sideroblastic anemia (XLSA ...

Copper deficiency is a rare cause of sideroblastic ... old man with a debilitating peripheral neuropathy that had progressed during the previous 18 months, mild anemia, and severe neutropenia.

Patients with XLSA experience a disruption in heme synthesis, leading to a spectrum of issues such as severe anemia and iron overload, which can cause symptoms like extreme fatigue, shortness of ...