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.
- Professor, Pathology & Laboratory Medicine, Boston University School of Medicine
- Professor, Pediatrics, Boston University School of Medicine
- Member, Center for Regenerative Medicine, Boston University
- Member, Center of 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 School of Medicine, Graduate Medical Sciences
- Tufts University School of Medicine, MD
- Cornell University, AB
- Published on 3/15/2022
Heitzer AM, Longoria J, Rampersaud E, Rashkin SR, Estepp JH, Okhomina VI, Wang WC, Raches D, Potter B, Steinberg MH, King AA, Kang G, Hankins JS. Fetal hemoglobin modulates neurocognitive performance in sickle cell anemia?,??. Curr Res Transl Med. 2022 Mar 15; 70(3):103335. PMID: 35303690.
- Published on 3/7/2022
Steinberg MH. Fetal hemoglobin in ß hemoglobinopathies: Is enough too much? Am J Hematol. 2022 Mar 07. PMID: 35253929.
- Published on 2/17/2022
Steinberg MH. Fetal-like Hemoglobin in Sickle Cell Anemia. N Engl J Med. 2022 02 17; 386(7):689-691. PMID: 35172060.
- Published on 2/16/2022
Klings ES, Steinberg MH. Acute chest syndrome of sickle cell disease: genetics, risk factors, prognosis, and management. Expert Rev Hematol. 2022 Feb; 15(2):117-125. PMID: 35143368.
- Published on 2/4/2022
Sun Y, Habara A, Le CQ, Nguyen N, Chen R, Murphy GJ, Chui DHK, Steinberg MH, Cui S. Pharmacologic induction of PGC-1a stimulates fetal haemoglobin gene expression. Br J Haematol. 2022 Apr; 197(1):97-109. PMID: 35118652.
- Published on 9/8/2021
Patrinos GP, Chui DHK, Hardison RC, Steinberg MH. Strategies to improve pharmacogenomic-guided treatment options for patients with ß-hemoglobinopathies. Expert Rev Hematol. 2021 10; 14(10):883-885. PMID: 34490838.
- Published on 6/1/2021
Steinberg MH. HbA2 induction: the merit of pancellularity in sickle cell disease. Br J Haematol. 2021 06; 193(6):1032-1033. PMID: 34060070.
- Published on 5/26/2021
Alnafie AN, Alateeq SA, Al-Muhanna FA, Alsulaiman AM, Alfarhan M, Buali W, Vatte CB, Cyrus C, Keating B, Al-Ali AK, Steinberg MH. Exome sequencing in high and low fetal haemoglobin Arab-Indian haplotype sickle cell disease. Br J Haematol. 2021 07; 194(2):e61-e64. PMID: 34041755.
- Published on 1/28/2021
Al-Ali AK, Alsulaiman A, Alfarhan M, Safaya S, Vatte CB, Albuali WM, Qutub HO, Alzahrani AJ, Milton JN, Steinberg MH. Sickle cell disease in the Eastern Province of Saudi Arabia: Clinical and laboratory features. Am J Hematol. 2021 04 01; 96(4):E117-E121. PMID: 33460474.
- Published on 12/5/2020
Frangoul H, Altshuler D, Cappellini MD, Chen YS, Domm J, Eustace BK, Foell J, de la Fuente J, Grupp S, Handgretinger R, Ho TW, Kattamis A, Kernytsky A, Lekstrom-Himes J, Li AM, Locatelli F, Mapara MY, de Montalembert M, Rondelli D, Sharma A, Sheth S, Soni S, Steinberg MH, Wall D, Yen A, Corbacioglu S. CRISPR-Cas9 Gene Editing for Sickle Cell Disease and ß-Thalassemia. N Engl J Med. 2021 01 21; 384(3):252-260. PMID: 33283989.
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