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2. Prediction of the chance of successful immune tolerance induction in persons with severe hemophilia A and inhibitors: a clinical prediction model

Author

Oomen, Ilja, Abdi, Amal, Camelo, Ricardo M., Callado, Fábia M.R.A., Carvalho, Luany E.M., Calcaterra, Ilenia L., Carcao, Manuel, Castaman, Giancarlo, Eikenboom, Jeroen C.J., Fischer, Kathelijn, Franco, Vivian K.B., Heymans, Martijn W., Leebeek, Frank W.G., Lillicrap, David, Lorenzato, Cláudia S., Mancuso, Maria Elisa, Matino, Davide, Di Minno, Matteo N.D., Mohseny, Alex B., Oldenburg, Johannes, Rezende, Suely Meireles, Rivard, Georges-Etienne, Rydz, Natalia, Schols, Saskia E.M., Voorberg, Jan, Fijnvandraat, Karin, and Gouw, Samantha C.

Published
2024
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6. A Pharmacist‐Managed Hydroxyurea Prescribing Protocol Improves Uptake and Optimization among Patients with Sickle Cell Disease.

Author

Roessner, Cameron, Sale, Trudy, Uminski, Kelsey, Goodyear, Dawn, Rydz, Natalia, and Kumar, Manishekhar

Subjects
DRUG therapy for sickle cell anemia, MEDICAL protocols, PATIENT compliance, DRUG toxicity, HUMAN services programs, RESEARCH funding, PILOT projects, HEMOGLOBINS, DESCRIPTIVE statistics, DRUG dosage, DRUG monitoring, VOLUMETRIC analysis, MEDICATION therapy management, HYDROXYUREA, PHYSICIAN practice patterns, DRUG prescribing, DRUGS, COUNSELING
Abstract

Sickle cell disease (SCD) is a common genetic disorder with potentially serious sequelae that can be effectively treated with hydroxyurea. Despite its favorable benefit‐risk profile, hydroxyurea uptake in patients with SCD is low. A pilot study was conducted at the Southern Alberta Rare Blood and Bleeding Disorders (SARBBDs) Comprehensive Care Program between January 2020 and September 2023 to assess the implementation of a pharmacist‐led protocol for supporting the uptake of hydroxyurea among eligible patients with SCD and optimizing its dosing. The protocol standardized the prescription, monitoring, dose titration, and patient counselling by a clinic pharmacist. The number of patients enrolled in the SARBBDs program increased from 98 in January 2020 to 168 in 2023. During this period, the proportion of patients on hydroxyurea increased from 37.8% to 62.5%, the proportion of patients on hydroxyurea who were at a maximum tolerated dose (MTD) increased from 35.1% to 63.8%, and the average hemoglobin F level increased from 13.9% to 19.7%. The mean time to reach MTD was 10 months and required eight pharmacist interventions, six laboratory assessments, and three dose increases. Hydroxyurea continuation rates were high, with most discontinuations resulting from loss to follow‐up or transition to a transfusion management strategy. This real‐world pilot study demonstrated that implementation of a pharmacist‐led prescribing and monitoring protocol nearly doubled hydroxyurea uptake and achievement of MTD in patients with SCD managed in a rare blood disorders clinic. [ABSTRACT FROM AUTHOR]

Published
2024
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7. A Scan of Pleiotropic Immune Mediated Disease Genes Identifies Novel Determinants of Baseline FVIII Inhibitor Status in Hemophilia-A

Author

Howard, Tom, primary, Almieda, Marcio, additional, Diego, Vincent, additional, Viel, Kevin, additional, Luu, Bernadette, additional, Haack, Karin, additional, Raja, Rajalingam, additional, Ameri, Afshin, additional, Chitlur, Meera, additional, Rydz, Natalia, additional, Lillicrap, David, additional, Watts, Raymond, additional, Kessler, Craig, additional, Ramsey, Christopher, additional, Dinh, Long, additional, Kim, Benjamin, additional, Powell, Jerry, additional, Peralta, Juan, additional, Bouls, Ruayda, additional, Abraham, Shirley, additional, Shen, Yu-Min, additional, Murillo, Carlos, additional, Mead, Henry, additional, Lehmann, Paul, additional, Fine, Eli, additional, Escobar, Miguel, additional, Kumar, Satish, additional, Williams-Blangero, Sarah, additional, Kasper, Carol, additional, Almasy, Laura, additional, Cole, Shelley, additional, Blangero, John, additional, and Konkle, Barbara, additional

Published
2023
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9. Endogenous factor VIII synthesis from the intron 22-inverted F8 locus may modulate the immunogenicity of replacement therapy for hemophilia A.

Author

Pandey, Gouri Shankar, Yanover, Chen, Miller-Jenkins, Lisa M, Garfield, Susan, Cole, Shelley A, Curran, Joanne E, Moses, Eric K, Rydz, Natalia, Simhadri, Vijaya, Kimchi-Sarfaty, Chava, Lillicrap, David, Viel, Kevin R, Przytycka, Teresa M, Pierce, Glenn F, Howard, Tom E, Sauna, Zuben E, and PATH (Personalized Alternative Therapies for Hemophilia) Study Investigators

Subjects
PATH (Personalized Alternative Therapies for Hemophilia) Study Investigators, Humans, Hemophilia A, Factor VIII, Pharmacogenetics, Introns, Chromosome Inversion, Antibodies, Neutralizing, HEK293 Cells, Rare Diseases, Genetics, Biotechnology, Prevention, Hematology, Medical and Health Sciences, Immunology
Abstract

Neutralizing antibodies (inhibitors) to replacement factor VIII (FVIII, either plasma derived or recombinant) impair the effective management of hemophilia A. Individuals with hemophilia A due to major deletions of the FVIII gene (F8) lack antigenically cross-reactive material in their plasma ("CRM-negative"), and the prevalence of inhibitors in these individuals may be as high as 90%. Conversely, individuals with hemophilia A caused by F8 missense mutations are CRM-positive, and their overall prevalence of inhibitors is

Published
2013

11. Contributors

Author

Abdel-Wahab, Omar, primary, Abrahm, Janet L., additional, Adams, Sharon, additional, Adewoye, Adeboye H., additional, Allen, Carl, additional, Ambinder, Richard F., additional, Anasetti, Claudio, additional, Anastasi, John, additional, Anderson, Julia A., additional, Antin, Joseph H., additional, Antony, Aśok C., additional, Araten, David J., additional, Armand, Philippe, additional, Armstrong, Gillian, additional, Armstrong, Scott A., additional, Arnold, Donald M., additional, Artz, Andrew S., additional, Awan, Farrukh T., additional, Baglin, Trevor P., additional, Benson, Don M., additional, Benz, Edward J., additional, Berliner, Nancy, additional, Bhagat, Govind, additional, Bhardwaj, Nina, additional, Bhatia, Ravi, additional, Bhatia, Smita, additional, Bhatt, Mihir D., additional, Bhatt, Vijaya Raj, additional, Bitan, Menachem, additional, Blinderman, Craig D., additional, Bollard, Catherine M., additional, Braun, Benjamin S., additional, Brenner, Malcolm K., additional, Brittenham, Gary M., additional, Brodsky, Robert A., additional, Brown, Myles, additional, Broxmeyer, Hal E., additional, Brummel-Ziedins, Kathleen, additional, Brunner, Andrew M., additional, Buadi, Francis K., additional, Burkhardt, Birgit, additional, Burns, Melissa, additional, Byrd, John C., additional, Caimi, Paolo F., additional, Caligiuri, Michael A., additional, Canavan, Michelle, additional, Cantor, Alan B., additional, Carcao, Manuel, additional, Carroll, Michael C., additional, Carty, Shannon A., additional, Castillo, Jorge J., additional, Chan, Anthony K.C., additional, Chapin, John, additional, Chiu, April, additional, Chute, John P., additional, Clark, David B., additional, Coates, Thomas D., additional, Cogle, Christopher R., additional, Connell, Nathan T., additional, Cooke, Elizabeth, additional, Cooley, Sarah, additional, Corradini, Paolo, additional, Creager, Mark A., additional, Creger, Richard J., additional, Cromwell, Caroline, additional, Crowther, Mark A., additional, Cushing, Melissa M., additional, Cutler, Corey, additional, Dang, Chi V., additional, Danial, Nika N., additional, Dave, Sandeep S., additional, DeCaprio, James A., additional, Dinauer, Mary C., additional, Dinner, Shira, additional, Diz-Küçükkaya, Reyhan, additional, Dodd, Roger Y., additional, Donato, Michele L., additional, Dorshkind, Kenneth, additional, Dotti, Gianpietro, additional, Dror, Yigal, additional, Dunleavy, Kieron, additional, Dvorak, Christopher C., additional, Ebert, Benjamin L., additional, Eck, Michael J., additional, Eikelboom, John W., additional, Epperla, Narendranath, additional, Ershler, William B., additional, Evans, William E., additional, Faderl, Stefan, additional, Ferrara, James L.M., additional, Filipovich, Alexandra Hult, additional, Fischer, Martin, additional, Fredenburgh, James C., additional, Friedman, Kenneth D., additional, Fuchs, Ephraim, additional, Fuller, Stephen J., additional, Gailani, David, additional, Galipeau, Jacques, additional, Gallagher, Patrick G., additional, Ganapathi, Karthik A., additional, Gardner, Lawrence B., additional, Gee, Adrian P., additional, Gerson, Stanton L., additional, Gertz, Morie A., additional, Giardina, Patricia J., additional, Gibson, Christopher J., additional, Golan, Karin, additional, Golub, Todd R., additional, Gonzales, Matthew J., additional, Gotlib, Jason, additional, Gottschalk, Stephen, additional, Grant, Marianne A., additional, Graubert, Timothy A., additional, Gregg, Xylina T., additional, Gribben, John G., additional, Gross, Dawn M., additional, Gruber, Tanja A., additional, Guitart, Joan, additional, Gurbuxani, Sandeep, additional, Gur-Cohen, Shiri, additional, Gutierrez, Alejandro, additional, Hamadani, Mehdi, additional, Hari, Parameswaran N., additional, Hartwig, John H., additional, Hayman, Suzanne R., additional, Hayward, Catherine P.M., additional, Hebbel, Robert P., additional, Heslop, Helen E., additional, Hillis, Christopher, additional, Hillyer, Christopher D., additional, Ho, Karin, additional, Hockenbery, David M., additional, Hoffman, Ronald, additional, Hogg, Kerstin E., additional, Holtan, Shernan G., additional, Horny, Hans-Peter, additional, Hsu, Yen-Michael S., additional, Hunter, Zachary R., additional, Huntington, James A., additional, Iancu-Rubin, Camelia, additional, Iqbal, Ali, additional, Isenman, David E., additional, Israels, Sara J., additional, Italiano, Joseph E., additional, Jaffe, Elaine S., additional, Jaffer, Iqbal H., additional, Jagannath, Sundar, additional, Jäger, Ulrich, additional, Jain, Nitin, additional, James, Paula, additional, Jeha, Sima, additional, Jordan, Michael B., additional, Josephson, Cassandra D., additional, Jung, Moonjung, additional, Kager, Leo, additional, Kambayashi, Taku, additional, Kanakry, Jennifer A., additional, Kantarjian, Hagop M., additional, Kaplan, Jason, additional, Karafin, Matthew S., additional, Karsan, Aly, additional, Kaufman, Randal J., additional, Kaufman, Richard M., additional, Keller, Frank G., additional, Kelly, Kara M., additional, Kessler, Craig M., additional, Key, Nigel S., additional, Keyzner, Alla, additional, Khandoga, Alexander G., additional, Khanna-Gupta, Arati, additional, Khatib-Massalha, Eman, additional, Klein, Harvey G., additional, Knoechel, Birgit, additional, Kollet, Orit, additional, Konkle, Barbara A., additional, Kontoyiannis, Dimitrios P., additional, Koreth, John, additional, Koretzky, Gary A., additional, Kotecha, Dipak, additional, Kremyanskaya, Marina, additional, Kumari, Anju, additional, Kuzel, Timothy M., additional, Küppers, Ralf, additional, Lacy, Martha Q., additional, Ladas, Elana, additional, Landier, Wendy, additional, Lapid, Kfir, additional, Lapidot, Tsvee, additional, Larson, Peter J., additional, Levi, Marcel, additional, Lewis, Russell E., additional, Liebman, Howard A., additional, Lillicrap, David, additional, Lim, Wendy, additional, Lin, Judith C., additional, Lindblad, Robert, additional, Lip, Gregory Y.H., additional, Little, Jane A., additional, Lohr, Jens G., additional, López, José A., additional, Luscinskas, Francis W., additional, Maciejewski, Jaroslaw P., additional, Majhail, Navneet S., additional, Manches, Olivier, additional, Mandle, Robert J., additional, Mann, Kenneth G., additional, Manno, Catherine S., additional, Marcogliese, Andrea N., additional, Mariani, Guglielmo, additional, Marincola, Francesco M., additional, Mascarenhas, John, additional, Massberg, Steffen, additional, McEver, Rodger P., additional, McGrath, Emer, additional, McKinney, Matthew S., additional, Mehta, Rohtesh S., additional, Mentzer, William C., additional, Merlini, Giampaolo, additional, Merryman, Reid, additional, Michel, Marc, additional, Migliaccio, Anna Rita, additional, Miller, Jeffrey S., additional, Mims, Martha P., additional, Mondoro, Traci Heath, additional, Moorehead, Paul, additional, Muniz, Luciana R., additional, Munshi, Nikhil C., additional, Najfeld, Vesna, additional, Nayak, Lalitha, additional, Nazy, Ishac, additional, Neff, Anne T., additional, Ness, Paul M., additional, Notarangelo, Luigi D., additional, O'Brien, Sarah H., additional, O'Connor, Owen A., additional, O'Donnell, Martin, additional, Olson, Amanda, additional, Orkin, Stuart H., additional, Pai, Menaka, additional, Pai, Sung-Yun, additional, Paidas, Michael, additional, Panch, Sandhya R., additional, Pande, Reena L., additional, Papayannopoulou, Thalia, additional, Parikh, Rahul, additional, Petersdorf, Effie W., additional, Peterson, Shane E., additional, Pittaluga, Stefania, additional, Ponce, Doris M., additional, Popolo, Laura, additional, Prchal, Josef T., additional, Pui, Ching-Hon, additional, Puigserver, Pere, additional, Rak, Janusz, additional, Ramos, Carlos A., additional, Rand, Jacob H., additional, Rand, Margaret L., additional, Rao, Dinesh S., additional, Ravandi, Farhad, additional, Rawlings, David J., additional, Reddy, Pavan, additional, Reding, Mark T., additional, Reiter, Andreas, additional, Rice, Lawrence, additional, Riese, Matthew J., additional, Ritchey, Arthur Kim, additional, Roberts, David J., additional, Roman, Elizabeth, additional, Rooney, Cliona M., additional, Rosen, Steven T., additional, Rosenthal, David S., additional, Rossmann, Marlies P., additional, Rot, Antal, additional, Rowley, Scott D., additional, Rubnitz, Jeffrey E., additional, Rydz, Natalia, additional, Salama, Mohamed E., additional, Sauk, Steven, additional, Saunthararajah, Yogen, additional, Savage, William, additional, Scadden, David, additional, Schaefer, Kristen G., additional, Schiffman, Fred, additional, Schneidewend, Robert, additional, Schrier, Stanley L., additional, Schuchman, Edward H., additional, Scullion, Bridget Fowler, additional, Selvaggi, Kathy J., additional, Senoo, Keitaro, additional, Shaheen, Montaser, additional, Shaz, Beth H., additional, Shelburne, Samuel A., additional, Shpall, Elizabeth J., additional, Shurin, Susan B., additional, Siegal, Deborah, additional, Silberstein, Leslie E., additional, Silberstein, Lev, additional, Silverstein, Roy L., additional, Sloan, Steven R., additional, Smith, Franklin O., additional, Smith, James W., additional, Smith, Katy, additional, Steensma, David P., additional, Steinberg, Martin H., additional, Stock, Wendy, additional, Storry, Jill R., additional, Stramer, Susan L., additional, Strauss, Ronald G., additional, Stroncek, David F., additional, Taylor, Justin, additional, Thota, Swapna, additional, Treon, Steven P., additional, Tulpule, Anil, additional, Valdes, Roberto Ferro, additional, Valent, Peter, additional, Vedantham, Suresh, additional, Vercellotti, Gregory M., additional, Verneris, Michael R., additional, Vichinsky, Elliott P., additional, von Andrian, Ulrich H., additional, Vose, Julie M., additional, Wagner, Andrew J., additional, Wang, Ena, additional, Wang, Jia-huai, additional, Warkentin, Theodore E., additional, Wasserstein, Melissa P., additional, Webster, Ann, additional, Weisdorf, Daniel J., additional, Weitz, Jeffrey I., additional, Westhoff, Connie M., additional, Wheeler, Allison P., additional, Widick, Page, additional, Wiley, James S., additional, William, Basem M., additional, Williams, David A., additional, Wilson, Wyndham H., additional, Wolfe, Joanne, additional, Wolgast, Lucia R., additional, Wood, Deborah, additional, Wu, Jennifer, additional, Yahalom, Joachim, additional, Yee, Donald L., additional, Younes, Anas, additional, Young, Neal S., additional, and Zeller, Michelle P., additional

Published
2018
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26. Administration of Neuraxial Anesthesia in Adults with Pre-Existing Bleeding Disorders and Tendencies: Methodology for Delphi Consensus Recommendations

Author

Peterson, Wynn, primary, Martin, Rachel, additional, Carvalho, Brendan, additional, Carvalho, Jose, additional, Gadsden, Jeff, additional, Kouides, Peter A., additional, Kuter, David J., additional, Lavin, Michelle, additional, Rydz, Natalia, additional, Shore, Eliane, additional, and Sholzberg, Michelle, additional

Published
2020
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34. The Canadian 'National Program for hemophilia mutation testing' database: a ten-year review

Author

Natalia, Rydz, Rydz, Natalia, Jayne, Leggo, Leggo, Jayne, Shawn, Tinlin, Tinlin, Shawn, Paula, James, James, Paula, David, Lillicrap, and Lillicrap, David

Subjects
Male, Canada, Population, DNA Mutational Analysis, von Willebrand Disease, Type 2, computer.software_genre, Hemophilia A, Hemophilia B, Frameshift mutation, Factor IX, Gene Frequency, Prenatal Diagnosis, Terminology as Topic, Databases, Genetic, medicine, Missense mutation, Humans, Haemophilia B, Genetic Testing, education, Genotyping, Retrospective Studies, Genetics, education.field_of_study, Factor VIII, Database, business.industry, Sequence Inversion, Genetic Carrier Screening, Hematology, Exons, Sequence Analysis, DNA, medicine.disease, Introns, Phenotype, Mutation (genetic algorithm), Mutation, Allelic heterogeneity, Female, RNA Splice Sites, business, computer, medicine.drug
Abstract

A reference genotyping laboratory was established in 2000 at Queen's University, Kingston, to provide genetic testing for Hemophilia A (HA) and B (HB) and create a Canadian mutation database. Canadian hemophilia treatment centers and genetics clinics provided DNA and clinical information from November 2000 to March 2011. The factor VIII (F8) gene was analyzed in 1,177 patients (47% of HA population) and 787 female family members and the factor IX (F9) gene in 267 patients (47% of HB population) and 123 female family members, using Southern Blot, PCR, conformation sensitive gel electrophoresis, and/or direct sequencing. The mutation detection rates for HA and HB were 91% and 94%, respectively. 380 different F8 mutations were identified: inversions of intron 22 and intron 1, 229 missense, 45 nonsense, eight deletions, 70 frameshifts, 25 splice site, and one compound mutation with a splice site and intron 1 inversion. Of these mutations, 228 were novel to the Hemophilia A Database (HADB, http://hadb.org.uk/). A total 125 different F9 mutations were identified: 80 missense, 12 frameshift, 12 splice site, nine nonsense and seven promoter mutations, three large deletions, and two compound mutations with both missense and nonsense changes. Of these mutations, 36 were novel to the International Haemophilia B Mutation database (http://www.kcl.ac.uk/ip/petergreen/haemBdatabase.html). The Canadian F8 and F9 mutation database reflects the allelic heterogeneity of HA and HB, and is similar to previously described populations. This report represents the largest and longest duration experience of a national hemophilia genotyping program documented, to date.

Published
2013

35. PT-VWD posing diagnostic and therapeutic challenges – small case series.

Author

Sánchez-Luceros, Analía, Woods, Adriana I., Bermejo, Emilse, Shukla, Shilpa, Acharya, Suchitra, Lavin, Michelle, Rydz, Natalia, and Othman, Maha

Subjects
VON Willebrand disease, PHENOTYPES, GENETICS, THROMBOCYTOPENIA, BLOOD platelet disorders
Abstract

Despite the increased worldwide awareness, over the last decade, of the platelet-type von Willebrand Disease (PT-VWD), many uncertainties remain around this rare platelet bleeding disorder. This report aims to correctly identify and study the phenotype of new patients and highlights the diagnostic and therapeutic challenges this disease remains to pose. We describe four PT-VWD cases confirmed by genetic analysis in which either the diagnosis and/or the treatment posed challenge. We provide the details of the clinical presentation, laboratory analysis, and the treatment and the responses in each case. We show that in addition to type 2B VWD, PT-VWD can be misdiagnosed as idiopathic thrombocytopenic purpura, neonatal alloimmune thrombocytopenia, and unexplained gestational thrombocytopenia. The disease can be diagnosed as early as 1 year of age and with phenotypically normal parents. Bleeding in some patients can be managed successfully using Humate P and DDAVP combined with tranexamic acid with no significant thrombocytopenia. We provide for the first time an evidence of an efficient response to rFVIIa in PT-VWD. Anaphylactic reaction to VWF preparations may be related to PT-VWD and the development of HLA antibodies is not uncommon. Progressive thrombocytopenia with normal VWF levels can be seen with PT-VWD and the platelet count was normalized at 2.5 weeks postpartum in one case. We conclude that these studies represent a record of clinical observations/interventions that help improve diagnoses/management of PT-VWD, highlight the variations in age and clinical presentations, laboratory diagnostic approaches, the importance of genetic testing for accurate diagnosis and consideration of therapeutic alternatives. [ABSTRACT FROM PUBLISHER]

Published
2017
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39. Contributors

Author

Abrahm, Janet L., Abrams, Charles S., Abrams, Donald I., Ackerman, Steven J., Adams, Sharon, Adewoye, Adeboye H., Allen, Carl, Ambinder, Richard F., Anasetti, Claudio, Anastasi, John, Anderson, Julia A., Andreeff, Michael, Antin, Joseph H., Antony, Aśok C., Apostolakis, Stavros, Armstrong, Scott A., Arnold, Donald M., Artz, Andrew S., Awan, Farrukh T., Banchereau, Jacques, Barker, Juliet N., Baum, Linda G., Benson, Don M., Jr., Benz, Edward J., Jr., Berliner, Nancy, Bhagat, Govind, Bhalla, Kapil N., Bhardwaj, Nina, Bhatia, Ravi, Bhatia, Smita, Blinderman, Craig D., Bollard, Catherine M., Brenner, Malcolm K., Brittenham, Gary M., Brodsky, Robert A., Broxmeyer, Hal E., Brummel-Ziedins, Kathleen, Buadi, Francis K., Butterfield, Joseph H., Byrd, John C., Caimi, Paolo F., Caligiuri, Michael A., Campagnaro, Erica, Canaani, Jonathan, Canavan, Michelle, Cantor, Alan B., Carcao, Manuel, Carroll, Michael C., Carty, Shannon A., Champlin, Richard E., Chan, Anthony K.C., Choate, Jacquelyn D., Chung, Peter, Chute, John P., Cines, Douglas B., Clark, David B., Coates, Thomas D., Cogle, Christopher R., Connell, Nathan T., Cooke, Elizabeth, Cooley, Sarah, Corradini, Paolo, Creager, Mark A., Creger, Richard J., Cromwell, Caroline, Cunningham, Regina S., Cushing, Melissa M., Cutler, Corey, Dahl, Gary V., Dang, Chi V., Danial, Nika N., Dave, Sandeep S., DeAngelo, Daniel J., Desai, Madhav V., Dey, Bimalangshu R., Diehl, Volker, Dinauer, Mary C., Diz-Küçükkaya, Reyhan, Donato, Michele L., Dorshkind, Kenneth, Dotti, Gianpietro, Dror, Yigal, Dunleavy, Kieron, Ebert, Benjamin L., Eck, Michael J., Eichenauer, Dennis A., Eikelboom, John W., Engert, Andreas, Ershler, William B., Esmon, Charles T., Esmon, Naomi L., Evans, William E., Faderl, Stefan, Ferrara, James L.M., Filipovich, Alexandra Hult, Freedman, Melvin H., Fuller, Stephen J., Gailani, David, Gallagher, Patrick G., Gardner, Lawrence B., Gee, Adrian P., Gerson, Stanton L., Gertz, Morie A., Giardina, Patricia J., Golan, Karin, Golub, Todd R., Gottschalk, Stephen, Grant, Steven, Green, David L., Gribben, John G., Guitart, Joan, Gur-Cohen, Shiri, Gurbuxani, Sandeep, Gutierrez, Alejandro, Hari, Parameswaran, Harlan, John M., Hartwig, John H., Hayman, Suzanne R., Hayward, Catherine P.M., Hebbel, Robert P., Heslop, Helen E., Hillyer, Christopher D., Hockenbery, David M., Hoffman, Ronald, Horowitz, Mary, Horwitz, Edwin M., Hromas, Robert A., Huang, Franklin W., Isenman, David E., Italiano, Joseph E., Jr., Jaffe, Elaine S., Jagannath, Sundar, Jäger, Ulrich, Jain, Nitin, James, Paula, Jeha, Sima, Jordan, Michael B., Josephson, Cassandra, Jung, Moonjung, Kager, Leo, Kamdar, Kala Y., Kanakry, Jennifer A., Kantarjian, Hagop M., Karafin, Matthew S., Karsan, Aly, Katz, Louis M., Kaufman, Randal J., Kaufman, Richard M., Keller, Frank G., Kelly, Kara M., Kelton, John, Kessler, Craig M., Key, Nigel S., Khandoga, Alexander G., Khanna-Gupta, Arati, Klein, Harvey G., Kollet, Orit, Konkle, Barbara A., Kontoyiannis, Dimitrios P., Koreth, John, Koretzky, Gary A., Kremyanskaya, Marina, Küppers, Ralf, Kuzel, Timothy M., Kwak, Larry W., Lakshmanan, Viswanathan, Landier, Wendy, Lapid, Kfir, Lapidot, Tsvee, Larson, Peter J., Lechner, Klaus, Lee, Andrea, Lee, William M.F., Levi, Marcel, Lewis, Russell E., Liebman, Howard A., Lillicrap, David, Lim, Wendy, Lin, Thomas S., Lindblad, Robert, Lip, Gregory Y.H., Little, Jane A., Loh, Mignon L., Look, A. Thomas, López, José A., Luscinskas, Francis W., Macartney, Christine A., Maciejewski, Jaroslaw P., Maitta, Robert W., Majhail, Navneet S., Manches, Olivier, Mandle, Robert, Mann, Kenneth G., Manno, Catherine S., Marchi, Enrica, Mariani, Guglielmo, Marincola, Francesco M., Marks, Peter W., Mascarenhas, John, Massberg, Steffen, Mauch, Peter M., McCorkle, Ruth, McCrae, Keith R., McEver, Rodger P., McGrath, Emer, McKinney, Matthew S., Meacham, Amy, Menitove, Jay E., Merlini, Giampaolo, Migliaccio, Anna Rita, Miller, Jeffrey S., Mims, Martha P., Mondoro, Traci Heath, Moorehead, Paul, Munshi, Nikhil C., Najfeld, Vesna, Nazi, Ishac, Neff, Anne T., Ness, Paul M., Ng, Andrea K., Notarangelo, Luigi D., O'Brien, Sarah H., O'Connor, Owen A., Donghaile, Diarmaid Ó, O'Donnell, Martin, Otis, Stavroula, Ou, Zhishuo, Pai, Sung-Yun, Palucka, Karolina, Pande, Reena L., Papayannopoulou, Thalia, Pardanani, Animesh, Paredes, Nethnapha, Patriquin, Christopher, Petersdorf, Effie W., Pittaluga, Stefania, Plow, Edward F., Ponce, Doris M., Popolo, Laura, Powell, Leland D., Price, Elizabeth A., Pui, Ching-Hon, Puigserver, Pere, Quintás-Cardama, Alfonso, Rak, Janusz, Ramos, Carlos A., Rand, Jacob H., Ravandi, Farhad, Rawlings, David J., Reddy, Pavan, Reding, Mark T., Rhee, Charles, Rice, Lawrence, Riese, Matthew J., Ritchey, Arthur Kim, Rivella, Stefano, Roberts, David J., Romaguera, Jorge E., Roman, Elizabeth, Rooney, Cliona M., Rosen, Steven T., Rosenthal, David S., Rosovsky, Rachel, Rowley, Scott D., Rydz, Natalia, Sadler, J. Evan, Sandlund, John T., Jr., Sauk, Steven, Saunthararajah, Yogen, Scadden, David, Schaefer, Kristen G., Schiffman, Fred J., Schmaier, Alvin H., Schrier, Stanley L., Schuchman, Edward H., Scullion, Bridget Fowler, Selvaggi, Kathy J., Shaheen, Montaser, Shaz, Beth H., Sheehan, Andrea M., Shelburne, Samuel A., Shlomchik, Mark J., Shurin, Susan B., Silberstein, Leslie E., Silberstein, Lev, Silverstein, Roy L., Sloan, Steven R., Smith, Franklin O., Smith, James, Snyder, Edward L., Soff, Gerald A., Spitzer, Thomas R., Steinberg, Martin H., Stock, Wendy, Stone, Richard M., Storry, Jill R., Strauss, Ronald G., Stroncek, David F., Szczepiorkowski, Zbigniew M., Tiu, Ramon V., Toltl, Lisa J., Toms, Angela, Tormey, Christopher A., Treon, Steven P., Tulpule, Anil, Vedantham, Suresh, Verneris, Michael R., Vichinsky, Elliott P., von Andrian, Ulrich H., Wagner, Andrew J., Wang, Ena, Wang, Jia-huai, Wang, Michael, Warkentin, Theodore E., Wasserstein, Melissa P., Wei, Michael C., Weinstein, Howard J., Weisdorf, Daniel J., Weitz, Jeffrey I., Westhoff, Connie M., Wiley, James S., Williams, David A., Wilson, Wyndham H., Wolfe, Joanne, Wolgast, Lucia R., Wood, Deborah, Wu, YanYun, Yee, Donald L., Young, Ken H., Young, Neal S., Zeldenrust, Steven R., Zhang, Liang, and Zhou, Ming-Ming

Published
2013
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40. Managing heavy menstrual bleeding in adolescents.

Author

RYDZ, NATALIA and JAMIESON, MARY ANNE

Abstract

The article discusses the diagnosis and treatment for heavy menstrual bleeding (HMB) in adolescents. It emphasizes the negative effect of HMB on the generation's quality of life including lifestyle disruption, iron deficiency and missed school days. Several tables are also offered depicting the clinical manifestations of bleeding disorders, criteria that prompt evaluation for disorders and approach to investigation of the disorders.

Published
2013

41. A Scan of Pleiotropic Immune Mediated Disease Genes Identifies Novel Determinants of Baseline FVIII Inhibitor Status in Hemophilia-A.

Author

Howard T, Almieda M, Diego V, Viel K, Luu B, Haack K, Raja R, Ameri A, Chitlur M, Rydz N, Lillicrap D, Watts R, Kessler C, Ramsey C, Dinh L, Kim B, Powell J, Peralta J, Bouls R, Abraham S, Shen YM, Murillo C, Mead H, Lehmann P, Fine E, Escobar M, Kumar S, Williams-Blangero S, Kasper C, Almasy L, Cole S, Blangero J, and Konkle B

Abstract

Hemophilia-A (HA) is caused by heterogeneous loss-of-function factor (F)VIII gene ( F8 )-mutations and deficiencies in plasma-FVIII-activity that impair intrinsic-pathway-mediated coagulation-amplification. The standard-of-care for severe-HA-patients is regular infusions of therapeutic-FVIII-proteins (tFVIIIs) but ~30% develop neutralizing-tFVIII-antibodies called "FVIII-inhibitors (FEIs)" and become refractory. We used the PATH study and ImmunoChip to scan immune-mediated-disease (IMD)-genes for novel and/or replicated genomic-sequence-variations associated with baseline-FEI-status while accounting for non-independence of data due to genetic-relatedness and F8 -mutational-heterogeneity. The baseline-FEI-status of 450 North American PATH subjects-206 with black-African-ancestry and 244 with white-European-ancestry-was the dependent variable. The F8 -mutation-data and a genetic-relatedness matrix were incorporated into a binary linear-mixed model of genetic association with baseline-FEI-status. We adopted a gene-centric-association-strategy to scan, as candidates, pleiotropic-IMD-genes implicated in the development of either ³2 autoimmune-/autoinflammatory-disorders (AADs) or ³1 AAD and FEIs. Baseline-FEI-status was significantly associated with SNPs assigned to NOS2A (rs117382854; p=3.2E-6) and B3GNT2 (rs10176009; p=5.1E-6), which have functions in anti-microbial-/-tumoral-immunity. Among IMD-genes implicated in FEI-risk previously, we identified strong associations with CTLA4 assigned SNPs (p=2.2E-5). The F8 -mutation-effect underlies ~15% of the total heritability for baseline-FEI-status. Additive genetic heritability and SNPs in IMD-genes account for >50% of the patient-specific variability in baseline-FEI-status. Race is a significant determinant independent of F8 -mutation-effects and non- F8 -genetics., Competing Interests: CONFLICTS OF INTEREST There are NO relevant conflicts for any co-author. H. Mead is an employee of BioMarin.

Published
2023
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42. The Canadian "National Program for hemophilia mutation testing" database: a ten-year review.

Author

Rydz N, Leggo J, Tinlin S, James P, and Lillicrap D

Subjects
Canada epidemiology, DNA Mutational Analysis, Exons genetics, Female, Gene Frequency, Genetic Carrier Screening, Genetic Testing, Hemophilia A epidemiology, Hemophilia B epidemiology, Humans, Introns genetics, Male, Phenotype, Prenatal Diagnosis, RNA Splice Sites, Retrospective Studies, Sequence Analysis, DNA, Sequence Inversion, Terminology as Topic, von Willebrand Disease, Type 2 epidemiology, von Willebrand Disease, Type 2 genetics, Databases, Genetic, Factor IX genetics, Factor VIII genetics, Hemophilia A genetics, Hemophilia B genetics, Mutation
Abstract

A reference genotyping laboratory was established in 2000 at Queen's University, Kingston, to provide genetic testing for Hemophilia A (HA) and B (HB) and create a Canadian mutation database. Canadian hemophilia treatment centers and genetics clinics provided DNA and clinical information from November 2000 to March 2011. The factor VIII (F8) gene was analyzed in 1,177 patients (47% of HA population) and 787 female family members and the factor IX (F9) gene in 267 patients (47% of HB population) and 123 female family members, using Southern Blot, PCR, conformation sensitive gel electrophoresis, and/or direct sequencing. The mutation detection rates for HA and HB were 91% and 94%, respectively. 380 different F8 mutations were identified: inversions of intron 22 and intron 1, 229 missense, 45 nonsense, eight deletions, 70 frameshifts, 25 splice site, and one compound mutation with a splice site and intron 1 inversion. Of these mutations, 228 were novel to the Hemophilia A Database (HADB, http://hadb.org.uk/). A total 125 different F9 mutations were identified: 80 missense, 12 frameshift, 12 splice site, nine nonsense and seven promoter mutations, three large deletions, and two compound mutations with both missense and nonsense changes. Of these mutations, 36 were novel to the International Haemophilia B Mutation database (http://www.kcl.ac.uk/ip/petergreen/haemBdatabase.html). The Canadian F8 and F9 mutation database reflects the allelic heterogeneity of HA and HB, and is similar to previously described populations. This report represents the largest and longest duration experience of a national hemophilia genotyping program documented, to date., (Copyright © 2013 Wiley Periodicals, Inc.)

Published
2013
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