David H.K. Chui, MD, FRCPC
|PI: David H.K. Chui, MD, FRCPC
Title: Professor of Medicine, Pathology & Laboratory Medicine
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, Canada, and contributed to the study of thalassemias and hemoglobinopathies, including a novel diagnostic strategy applicable for population screening to detect α-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 β-thalassemia patients and their family members to search for hereditary factors that regulate Hb F production.
Selected Recent Publications:
Dr. Chui has over 180 publications, and has successfully collaborated with investigators in the United States, Canada, and abroad.
1. Chui DHK, Fucharoen S, Chan V. Hemoglobin H disease: not necessarily a benign disorder. Blood. 101: 791-800, 2003.
2. 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.
3. 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 b-thalassemia heterozygotes in Hong Kong. Am J Hematol. 83: 458-464, 2008.
4. 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.
5. 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 β-hemoglobinopathies. Blood Cells Mol Dis. 41: 255-258, 2008.
6. Chen ZY, Luo H-Y, Steinberg MH, Chui DHK. BCL11A represses HBG transcription in K562 cells. Blood Cell Mol Dis. 42: 144-149, 2009.
7. Verhovsek M*, Henderson MPA, Cox G, Luo H-Y, Steinberg MH, Chui DHK. Unexpectedly low pulse oximetry measurements associated with variant hemoglobins: A systematic review. Am J Hematol. 86: 722-725, 2011.
8. Giardine B, Borg J, Higgs DR, Maglott D, Basak AN, Clark B, Faustino P, Felice AE, Francina A, Gallivan MVE, Georgitsi M, Gibbons RJ, Giordano PC, Harteveld CL, Joly P, Kanavakis E, Kollia P, Menzel S, Miller W, Moradkhani K, Old J, Papachatzopoulou A, Papakdakis MN, Papadopoulos P, Pavlovic S, Philipson S, Radmilovic M, Riemer C, Schrijver I, Stojiljkovic M, Thein SL, Traeger-Synodinos J, Tully R, Wada T, Waye JS, Wiemann C, Zukic B, Chui DHK, Wajcman H, Hardison RC, Patrinos GP. Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. Nat Genet. 43: 295-301, 2011.
9. Farrell JJ, Sherva RM, Chen ZY, Luo H-Y, Chu BF*, Ha SY, Li CK, Lee ACW, Li RCH, Li CKeung, Yuen HL, So JCC, Ma ESK, Chan LC, Chan V, Sebastiani P, Farrer LA, Baldwin CT, Steinberg MH, Chui DHK. A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression. Blood. 117: 4935-4945, 2011.
10. Verhovsek M*, So CC, O’Shea T, Gibney GT*, Ma ESK, Steinberg MH, Chui DHK. Is HbA2 level a reliable diagnostic measurement for β-thalassemia trait in people with iron deficiency? Am J Hematol 87: 114-116, 2012.
11. Akinsheye I*, Solovieff N, Ngo DA, Malek A, Sabastiani P, Steinberg MH, Chui DHK. Fetal hemoglobin in sickle cell anemia: Molecular characterization of unusually high fetal hemoglobin phenotype in African Americans. Am J Hematol. 87: 217-219, 2012.
12. Verhovsek M*, Shah NR, Wilcox I*, Koenig SC*, Barros T*, Thornburg CD, Steinberg MH, Luo H-Y, Chui DHK. Severe fetal and neonatal hemolytic anemia due to a 198 kb deletion removing the complete β-globin gene cluster. Pediatr Blood Cancer. 59: 941-944, 2012.
13. Verhovsek M, Chui DHK. Pulse oximetry screening for critical congenital heart defects. Lancet. 380: 1305-1306, 2012.
14. Croteau SE, Luo H-Y, Lehmann LE, Chui, DHK, Neufeld EJ. Novel dominant β-thalassemia: Hb Boston-Kuwait [Codon 139/140 (+T)]. Pediatr Blood Cancer. (In press).
*Student, post-doctoral fellow, or medical resident in Dr. Chui’s laboratory.