David H.K. Chui MD, FRCPC

Professor of Medicine, Pathology & Laboratory Medicine
Boston University School of Medicine
Director, Hemoglobin Diagnostic Reference Laboratory
Boston Medical Center

Contact Info

Evans 248
Boston University School of Medicine
88 East Newton Street
Boston, MA 02118

  • Tel. 617-414-1018
  • Fax 617-414-1021
  • Email: david.chui@bmc.org

Education, Appointments and Honors

  • BS University of Maryland, 1959
  • MD, CM McGill University, 1963
  • Internal Medicine Residency, McGill University and University of Pennsylvania 1963-1967
  • Hematology Fellowship, Columbia-Presbyterian Medical Center, NY 1967-1970
  • FRCPC Internal Medicine, 1970
  • McMaster University Faculty, 1970-2002
  • Medical Research Council of Canada Scholar, 1971-1976
  • BLOOD Editorial Board, 1980-1984
  • NIH Hematology Study Section, 1987-1991
  • Chair, Medical Advisory Board, Thalassemia Foundation of Canada, 2000-2002
  • American Society for Clinical Investigation, elected in 1980
  • Association of American Physicians, elected in 1991
  • “The Best Doctors in America” 2007-2008

Research Interests

Throughout his academic career, Dr. Chui has maintained a keen interest in the developmental biology of erythropoiesis in health and disease. In the 70’s, he studied the developmental cell biology and pathophysiology of anemic mutant mice, particularly that of the Steel mutation, now known to be caused by aberrant Steel factor, or stem cell factor. During the 80’s, Dr. Chui concentrated on the study of hemoglobin ontogeny in mice and in man. He discovered that human embryonic hemoglobins persist throughout intrauterine life, and even into adulthood in some hereditary disorders.

In the 90’s, Dr. Chui applied molecular biology techniques to study human diseases. He was the Founding Director of the Provincial Hemoglobinopathy DNA Diagnostic Laboratory in Ontario, and made significant contributions to the study of thalassemias and hemoglobinopathies, including a novel diagnostic strategy applicable for population screening to detect alpha-thalassemia carriers. His laboratory cloned and characterized three then novel genes found in erythroid cells: Nrf 2, Hn1, and Ermap.

Since joining the Boston University in 2003, Dr. Chui has established another successful Hemoglobin Diagnostic Reference Laboratory, to which patients’ samples have been referred from throughout Massachusetts, the United States, and beyond. It is a repository for unusual or novel globin gene mutations, some of which form the basis for further laboratory research. Dr. Chui continues to pursue issues related to thalassemia and population health. Concurrently, Dr. Chui is engaged in a large genetic association research project using SNP genotyping in beta-thalassemia patients and their family members to search for hereditary factors that regulate Hb F production.

Selected Publications

Dr. Chui has over 150 publications, and has successfully collaborated with many outstanding investigators in the United States, Canada, and abroad.

  1. Brotherton TW*, Chui DHK, Gauldie J, Patterson M.
    Hemoglobin ontogeny during normal mouse fetal development.
    Proc Natl Acad Sci USA 76: 2853‑2857, 1979.
  • Chui DHK, Wong SC, Enkin MW, Patterson M, Ives RA.
    Proportion of fetal hemoglobin synthesis decreases during erythroid cell maturation.
    Proc Natl Acad Sci USA 77: 2757‑2761, 1980.

  • Wong PMC*, Clarke BJ, Carr DH, Chui DHK.
    Adult hemoglobins are synthesized in erythroid colonies in vitro derived from murine circulating hemopoietic progenitor cells during embryonic development.
    Proc Natl Acad Sci USA 79: 2952‑2956, 1982.

  • Chung S‑W*, Wong SC, Clarke BJ, Patterson M, Walker WHC, Chui DHK.
    Human embryonic zeta-globin chains in adult patients with alpha‑thalassemias.
    Proc Natl Acad Sci USA 81: 6188‑6191, 1984.

  • Chui DHK, Wong SC, Chung S‑W*, Patterson M, Bhargava S, Poon M‑C.
    Embryonic zeta-globin chains in adults: A marker for alpha‑thalassemia‑1 haplotype due to a >17.5 kb deletion.
    N Engl J Med 314: 76‑79, 1986.
  • Wong PMC*, Chung S‑W*, Reicheld SM, Chui DHK.
    Hemoglobin switching during murine embryonic development: Evidence for two populations of embryonic erythropoietic progenitor cells.
    Blood 67: 716‑721, 1986.
  • Wong PMC*, Chung S-W, Chui DHK, Eaves CJ.
    Properties of the earliest clonogenic hemopoietic precursors to appear in the developing murine yolk sac.
    Proc Natl Acad Sci USA 83: 3851-3854, 1986.

  • Toles JT*, Chui DHK, Belbeck LW, Starr E, Barker JE.
    Hemopoietic stem cells in murine embryonic yolk sac and peripheral blood.
    Proc Natl Acad Sci USA 86: 7456-7459, 1989.
  • Chui DHK, Patterson M, Dowling CE, Kazazian Jr HH, Kendall AG.
    Hemoglobin Bart’s disease in an Italian boy: Interaction between alpha-thalassemia and hereditary persistence of fetal hemoglobin.
    N Engl J Med 323: 179-182, 1990.
  • Tang W*, Luo H-Y*, Eng B, Waye JS, Chui DHK.
    A simple immunocytological test for detecting adult carriers of the ( – SEA / ) deletional alpha‑thalassemia.
    Lancet 342: 1145-1147, 1993.
  • Lau Y-L, Chan L-C, Chan Y-YA, Ha S-Y, Yeung C-Y, Waye JS, Chui DHK.
    Prevalence and genotypes of alpha- and beta-thalassemias in Hong Kong: Implications for population screening.
    N Engl J Med 336: 1298-1301, 1997.
  • Chui DHK, Waye JS.
    Hydrops fetalis caused by alpha-thalassemia: An emerging health care problem.
    Blood 91: 2213-2222, 1998.
  • Lorey F, Cunningham G, Vichinsky E, Lubin BH, Witkowska HE, Matsunaga A, Azimi M, Sherwin J, Eastman J, Farina F, Waye JS, Chui DHK.
    Universal newborn screening for Hb H disease in California.
    Genet Test 5: 93-100, 2001.
  • Lorey F, Charoenkwan P, Witkowska HE, Lafferty J, Patterson M, Eng B, Waye JS, Finklestein JZ, Chui DHK.
    Hb H hydrops foetalis syndrome: A case report and review of literature.
    Br J Haematol 115: 72-78, 2001.
  • Chiu RWK, Lau TK, Leung TN, Chow KYK, Chui DHK, Lo YMD.
    Prenatal exclusion of beta thalassaemia major by examination of maternal plasma.
    Lancet 360: 998-1000, 2002.

  • Chui DHK, Fucharoen S, Chan V.
    Hemoglobin H disease: not necessarily a benign disorder.
    Blood 101: 791-800, 2003.
  • Ding C, Chiu RWK, Lau TK, Leung TN, Chan LC, Chan AYY, Charoenkwan P, Ng ISL, Law H-Y, Ma ESK, Xu X, Wanapirak C, Sanguansermsri T, Liao C, Ai MATJ, Chui DHK, Cantor CR, Lo YMD.
    MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis.
    Proc Natl Acad Sci USA 101: 10762-10767, 2004.
  • Lau ET, Kwok YK, Luo HY, Leung KY, Lee CP, Lam YH, Chui DHK, Tang MHY.
    Simple non-invasive prenatal detection of Hb Bart’s disease by analysis of fetal erythrocytes in maternal blood.
    Prenat Diagn 25: 123-128, 2005.
  • Andersson BAR*, Wering MEL*, Luo H-Y, Basran RK*, Steinberg, MH, Smith HP, Chui DHK.
    Sickle cell disease due to compound heterozygosity for Hb S and a novel 7.7 Kb beta-globin gene deletion.
    Eur J Haematol 78: 82-85, 2007.
  • Masiello D*, Heeney MM, Adewoye AH, Eung SH, Luo H-Y, Steinberg MH, Chui DHK.
    Hemoglobin SE disease – A concise review.
    Am J Hematol 82: 643-649, 2007.
  • Gibney GT*, Panhuysen CIM, So JCC, Ma ESK, Ha SY, Li CK, Lee ACW, Li CK, Yuen HL, Lau YL, Johnson DM, Farrell JJ, Bisbee AB, Farrer LA, Steinberg MH, Chan LC, Chui DHK.
    Variation and heritability of Hb F and F-cells among beta-thalassemia heterozygotes in Hong Kong.
    Am J Hematol 83: 458-464, 2008.
  • Chen ZY, Luo H-Y, Basran RK*, Hsu T-H*, Mang DWH*, Nuntakarn L*, Rosenfield CG, Patrinos GP, Hardison RC, Steinberg MH, Chui DHK.
    A T>G transversion at NT 567 upstream of HBG2 in a GATA-1 binding motif is associated with elevated Hb F.
    Mol Cell Biol 28: 4386-4393, 2008.
  • Sedgewick AE, Timofeev N, Sebastiani P, So JCC, Ma ESK, Chan LC, Fucharoen G, Fucharoen S, Barbosa CG, Vardarajan BN, Farrer LA, Baldwin CT, Steinberg MH, Chui DHK.
    BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies.
    Blood Cells Mol Dis (in press).

* Graduate student, post-doctoral fellow, or medical resident in Dr. Chui’s laboratory.