BBS Faculty Member - Mark Fleming

Mark Fleming

Department of Pathology

Boston Children's Hospital
Pathology Dept., Bader Bldg., Rm.124.1
300 Longwood Avenue
Boston, MA 02115
Tel: 617-919-2664
Fax: 617-730-0168

My laboratory is primarily interested in investigating how mammals acquire and utilize iron. In mammals, erythrocytes typically contain greater than 70% of the organism’s iron in the form of heme in hemoglobin. Over the past several years, many of the transporter and accessory proteins involved in intercellular iron metabolism have been described. However, many proteins involved in intracellular iron metabolism beyond the basic components of the transferrin cycle remain elusive. Furthermore, the enzymatic components of heme biosynthesis are well characterized, but accessory transporters and other proteins required to shuttle heme precursors between mitochondria and the cytoplasm are unknown.

To investigate these areas, we are taking two general approaches. First we are positionally cloning and characterizing the genes underlying several mouse and human hereditary defects in erythroid iron and heme metabolism that lead to congenital forms of anemia. Second, using targeted mutagenesis in the mouse, we are studying proteins implicated in systemic, intracellular and erythroid iron homeostasis. In particular, we are interested in the pathogenesis in a group of bone marrow disorders known as sideroblastic anemias, in which erythroid precursors develop pathologic mitochondrial iron deposits

Rotation students are typically involved in physiological characterization and/or positional cloning of novel murine or human anemia phenotypes.

Last Update: 5/29/2014


For a complete listing of publications click here.



Finberg KE, Heeney MH, Campagna D, Aydýnok Y, Pearson HA, Hartman KP, Mayo MM, Samuel SM, Strouse JJ, Markianos K, Andrews NC*, Fleming MD*. Mutations in TMPRSS6 cause iron-refractory, iron deficiency anemia (IRIDA). Nat Genet. 2008;40:569-571.

Tian M, Campagna DR, Woodward LS, Justice MJ, Fleming MD. hem6: an ENU-induced recessive hypochromic microcytic anemia mutation in the mouse. Blood. 2008;112(10):4308-13.

Guernsey DL, Jiang H, Campagna DR, Evans SC, Ferguson M, Kellogg MD, Lachance M, Matsuoka M, Nightingale M, Rideout A, Saint-Amant L, Schmidt PJ, Orr A, Bottomley SS, Fleming MD, Ludman M, Dyack S, Fernandez CV, Samuels ME. Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Nat Genet. 2009 Jun;41(6):651-3.

Bartnikas TB, Andrews NC, Fleming MD. Transferrin is a major determinant of hepcidin expression in hypotransferrinemic mice. Blood. 2011 Jan 13;117(2):630-7.

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