Martin H. Steinberg

Professor of Medicine, Pediatrics, Pathology and Laboratory Medicinesteinberg_mhs-pic


MD, Tufts

General field of research:

Genetics of hemoglobinopathies

Affiliations other than medicine:

Evans Center for Interdisciplinary Biomedical Research
Pediatrics, Pathology and Laboratory

Contact information:

Office and Lab:
72 E. Concord St, Boston, MA 02118
Phone: (617)-414 1020
Fax: (617)-414 1021

Other research websites:

Research group information

Daniel Dworkis,

Paola Sebastiani,

Clinton Baldwin,

Duyen Ngo,


Sickle cell; SNPs; Fetal hemoglobin

Summary of research interest:

A single beta-globin gene mutation causes sickle cell anemia. Nevertheless, the exceptional phenotypic variability of this disease suggests that other genes could modulate its phenotype. We have discovered that polymorphisms in some genes were associated with discrete subphenotypes of sickle cell anemia, stroke for example. In some of our studies we have learned that networks of interacting gene polymorphisms or SNPs and laboratory variables can predict the likelihood of stroke in sickle cell anemia and foretell the likelihood of near-term death. We have completed genome-wide association studies of about 2,000 sickle cell anemia patients. With contemporary association analysis and novel bioinformatics we will compare associations with clinical features of sickle cell anemia including blood pressure, survival, stroke, osteonecrosis, priapism, leg ulcers and an integrated measure of disease severity that  reflects pathophysiological elements of this disease. We are studying gene expression in mononuclear cells and blood outgrowth endothelial cells from patients with sickle cell pulmonary hypertension founded on our observations that inflammation and genes of the TGF-beta/BMP pathway seem to be associated with several disease subphenotypes. Finally, we are examining whether the serum proteome and oxidatively modified proteins in plasma are associated with sickle pulmonary hypertension.


Recent publications:

Chen, Z. Luo, H-Y, Steinberg, M.H., Chui, D.H.K.  2009.  BCL11A represses HBG transcription in K562 cells. Blood Cells Mol. Dis.  42: 144.

Chen,Z.,   Hong-yuan, L,. Basran, R.K., Rosenfield, C.G., Patrinos, G.P., Hardison, R.C., Steinberg, M.H., Chui, D.H.K.  2008.  A T-to-G  transversion  at nucleotide -567  upstream  of HBG2 in a GATA-1 binding  motif is associated  with  elevated hemoglobin F. Mol. Cell. Biol. 28: 4386.

Sedgewick, A.E., Timofeev, N., Sebastiani, P., So, J.C.C., Ma, E.S.K., Chan, L.C., Fucharoen, G., Fucharoen, S., Barbosa, C.G., Vardarajan, B., Farrer, L.A., Baldwin, C.T., Steinberg, M.H.,  Chui, D.H.K.  2008.  BCL11A is  a major HbF  quantitative trait locus in three different  populations with β-hemoglobinopathies. Blood Cells Mol. and Dis. 41: 255.

Taylor, J.G., IV, Nolan, V.G., Mendelsohn, L., Kato, G J., Gladwin, M.T., Steinberg, M.H.  2008. Chronic hyper-hemolysis in sickle cell anemia: association of vascular complications and mortality with less frequent vasoocclusive pain. PLoS One May 7;3(5):e2095.

Sebastiani, P., Nolan, V.G., Baldwin, C.T., Abad-Grau, M.M., Wang, L., Adewoye, A.H., McMahon, L.C., Farrer, L.A., Taylor, J.T., Kato, G.J., Gladwin, M.T., Steinberg, M.H.  2007.  A network model to predict the risk of death in sickle cell disease. Blood 110: 272.

Sebastiani, P., Ramoni, M.F. Nolan, V., Baldwin, C, Steinberg, M.H.  2005.  Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia. Nature Genetics 37: 435.

Baldwin, C., Nolan, V.G., Wyszynski, D.,  Ma, Q., Sebastiani, P., Embury, S.H., Bisbee, A., Farrell, J.J., Farrer, L.A., Steinberg, M.H.  2005.  Association of Klotho, Bone Morphogenic Protein 6 and Annexin A2 Polymorphisms  with Sickle Cell Osteonecrosis. Blood: 106: 372.

Klings, E.S.,  Safaya, S.,  Adewoye, A.H., Odhiambo, A., Frampton, G., Lenburg, M., Gerry, N., Sebastiani, P., Steinberg, M.H., Farber, H.W.  2005.  Differential gene expression in pulmonary artery endothelial cells exposed to sickle cell plasma. Physiological Genomics. 21: 293.

Technologies available for sharing upon request:

SNP genotyping; Gene expression