Martin H. Steinberg, MD

Professor, Boston University Chobanian & Avedisian School of Medicine

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.

Publications

  • Published 3/1/2025

    Wonkam A, Esoh K, Levine RM, Ngo Bitoungui VJ, Mnika K, Nimmagadda N, Dempsey EAD, Nkya S, Sangeda RZ, Nembaware V, Morrice J, Osman F, Beer MA, Makani J, Mulder N, Lettre G, Steinberg MH, Latanich R, Casella JF, Drehmer D, Arking DE, Chimusa ER, Yen JS, Newby GA, Antonarakis SE. FLT1 and other candidate fetal haemoglobin modifying loci in sickle cell disease in African ancestries. Nat Commun. 2025 Mar 01; 16(1):2092. PMID: 40025045.

    Read at: PubMed

  • Published 12/4/2024

    McManus M, Frangoul H, Steinberg MH. CRISPR-based gene therapy for the induction of fetal hemoglobin in sickle cell disease. Expert Rev Hematol. 2024 Dec; 17(12):957-966. PMID: 39535263.

    Read at: PubMed

  • Published 7/31/2024

    Sun Y, Benmhammed H, Al Abdullatif S, Habara A, Fu E, Brady J, Williams C, Ilinski A, Sharma A, Mahdaviani K, Alekseyev YO, Campbell JD, Steinberg MH, Cui S. PGC-1a agonism induces fetal hemoglobin and exerts antisickling effects in sickle cell disease. Sci Adv. 2024 Aug 02; 10(31):eadn8750. PMID: 39083598.

    Read at: PubMed

  • Published 4/24/2024

    Frangoul H, Locatelli F, Sharma A, Bhatia M, Mapara M, Molinari L, Wall D, Liem RI, Telfer P, Shah AJ, Cavazzana M, Corbacioglu S, Rondelli D, Meisel R, Dedeken L, Lobitz S, de Montalembert M, Steinberg MH, Walters MC, Eckrich MJ, Imren S, Bower L, Simard C, Zhou W, Xuan F, Morrow PK, Hobbs WE, Grupp SA. Exagamglogene Autotemcel for Severe Sickle Cell Disease. N Engl J Med. 2024 May 09; 390(18):1649-1662. PMID: 38661449.

    Read at: PubMed

  • Published 11/21/2023

    Heitzer AM, Rashkin SR, Trpchevska A, Longoria JN, Rampersaud E, Olufadi Y, Wang WC, Raches D, Potter B, Steinberg MH, King AA, Kang G, Takemoto CM, Hankins JS. Catechol-O-methyltransferase gene (COMT) is associated with neurocognitive functioning in patients with sickle cell disease. Curr Res Transl Med. 2024 Jun; 72(2):103433. PMID: 38244277.

    Read at: PubMed

View All 366 Publications:   View Full Profile in BUMC

Other Positions

  • Professor, Pathology & Laboratory Medicine
    Boston University Chobanian & Avedisian School of Medicine
  • Professor, Pediatrics
    Boston University Chobanian & Avedisian School of Medicine
  • Member, Center for Regenerative Medicine
    Boston University
  • Member, Center for Excellence in Sickle Cell Disease
    Boston University
  • Member, Evans Center for Interdisciplinary Biomedical Research
    Boston University
  • Member, Genome Science Institute
    Boston University
  • Graduate Faculty (Primary Mentor of Grad Students)
    Boston University Chobanian & Avedisian School of Medicine, Graduate Medical Sciences

Websites

Education

  • Tufts University School of Medicine, MD
  • Cornell University, AB

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