Martin H. Steinberg, MD

Biography

Martin H Steinberg, MD, is a hematologist/internist whose clinical and research focus has been on disorders of the red blood cell with special emphasis on sickle cell disease. He has published 450 articles and 3 textbooks on the science and clinical features of sickle cell disease and related disorders. A graduate of Cornell University and Tufts University School of Medicine he completed post-graduate training in New York and Boston. He conducts basic, translational and clinical studies devoted to understanding the pathophysiology and genetic basis of sickle cell phenotypic heterogeneity. He modeled the HbF concentration among red blood cells showing that only patients with very high HbF levels were likely to have major benefit, therefor setting a standard for HbF induction therapies. He identified cis- and trans-acting elements that help explain the high HbF levels of Saudi patients from the Eastern Province whose sickle hemoglobin gene is associated with the Arab-Indian haplotype. Using candidate gene, genome-wide association studies and next-generation sequencing to understand the genetic determinants of sickle cell disease heterogeneity, Dr. Steinberg and his coworkers modeled disease severity and selected subphenotypes of disease to discover hitherto unsuspected genetic associations. He has also reimagined the pathophysiologic features of sickle cell anemia, establishing with his collaborators a new widely accepted paradigm that the pathophysiology of sickle cell disease is a combination of both sickle vasoocclusion and intravascular hemolysis that has important prognostic and therapeutic implications. He also reported the first of a new class of hemoglobin disorders, the thalassemic hemoglobinopathies, wherein a single exonic mutation causes both a variant hemoglobin but also phenotype of thalassemia because of hemoglobin hyper-instability and catabolism.