One of my primary goals as a clinician scientist is to understand the pathophysiology of hemoglobinopathies and evaluate therapeutic interventions to improve disease outcomes. My clinical interests include iron metabolism, transfusion medicine, in utero transfusions therapy, neurodegenerative brain disease, cellular and stem cell therapies, and the development of novel therapeutics and chelators for sickle cell disease (SCD) and thalassemia. I am PI on multiple ongoing trials to investigate the safety and efficacy of new therapies and work closely with biomedical and pharmaceutical industry partners. Over my career I have led many phase 1/3 randomized, double blind, placebo-controlled, multicenter clinical drug studies, including arginine, glutamine, nitric oxide, hemoglobin F modulators, antioxidants, anti-adhesion agents, antithrombotic agents, anti-P selectins, oral decitabine, etc..(deferiprone, deferisirox, crizanlizumab, voxelotor, mitapivat, inclacumab). I played an instrumental role in securing FDA approval in 2019 of the first new drugs (voxelotor and crizanlizumab) to become available since hydroxurea for the treatment of patients living with SCD. In 2021 we launched the Western States Sickle Cell Disease Clinical Trials Network, a large, multi-state regional consortium that is part of a national collaborative research initiative of the American Society of Hematology. With dozens of novel pharmaceutical, stem cell, and cellular therapies in the research and development pipeline, the future looks increasingly promising for people living with hemoglobinopathies.


My vision upon joining Children’s Hospital Oakland’s Hematology Oncology faculty in 1979 was to build an innovative, world-class hemoglobinopathy treatment center that provided high-quality, evidence-based accessible healthcare for historically underserved populations living with SCD. I established the Northern California Comprehensive Sickle Cell Center in 1981 and marked the opening of the Northern California Comprehensive Thalassemia Center in 1985. I founded the Apheresis Center and the Transfusion/Infusion Day Unit in the mid-1980’s and went on to develop most of the hematology specialty services currently available at my institution. In the early 1990’s I collaborated with state government partners to establish California’s first Newborn Screening Program for SCD. This clinical program was expanded to include screening newborns for other hemoglobinopathies, like thalassemia, and eventually became universally adopted by every state in the nation. I established the California State Reference Laboratory at my institution and served as its director for nearly two decades. Following my interest in iron dysregulation, I raised funds in 2002 to acquire a rare piece of equipment called a ferritometer, also known as a “SQUID” (Superconducting Quantum Interference Device), for my bioiron program. This enabled me to precisely and non-invasively measure patients’ body iron stores. In collaboration with multidisciplinary researchers, including neurologists, physiatrists, and neuro-imaging experts, I established one of the very few clinical programs in the world that treats neuro-degeneration with brain iron accumulation (NBIA). This program was subsequently awarded an R01 to study chelation for rare neurodegenerative brain diseases, like pantothenate kinase-associated neurodegeneration (PKAN). My colleagues at the UCSF Maternal and Fetal Medicine Program colleagues and I conducted ground-breaking research to determine the safety and efficacy of in utero stem cell therapy with transfusion therapy. In 2019, we celebrated the successful delivery of the world’s first baby treated in utero for alpha thalassemia major, who is now living a relatively healthy and normal life. Today, my hemoglobinopathy center is not just an integrated medical home for patients who receive compassionate, comprehensive standard of care treatment, with opportunities to participate in clinical trials. It is also an authoritative resource for health care providers, researchers, patients, students, governmental agencies, and organizations seeking guidance on all aspects of hemoglobinopathy diagnosis, treatment, and management.