eBriefing

Cooley's Anemia

Cooley's Anemia

Overview

Children born with the inherited blood disorder known as Cooley's anemia endure a lifetime of blood transfusions. Their bedtime rituals include hooking up to a pump to supply overnight infusions of medicine. But researchers are working to change that through advances in understanding the disorder, improving existing treatments, and finding ways to repair the defective genes that cause it.

The latest developments in these avenues of research were the subject of the Eighth Cooley's Anemia Symposium, held March 17-19, 2005, in Lake Buena Vista, Florida. The conference, organized by the New York Academy of Sciences in collaboration with the Cooley's Anemia Foundation, brought together leading researchers to discuss current findings and set the agenda for future research.

Use the tabs above to find a meeting report and multimedia from this conference.

Web sites

Cooley's Anemia Foundation
The foundation's mission is to advance the treatment and cure for this fatal blood disease, enhance the quality of life of patients, and educate the medical profession, trait carriers and the public about Cooley's anemia and other forms of thalassemia.

Northern California Comprehensive Thalassemia Center
Located at Children's Hospital Oakland, the center was established to deliver care to thalassemia patients in the region and provide education, genetic counseling, and psychosocial care to affected families and those at risk for carrying the disease. The center is at the forefront of research on improving the quality of life for thalassemia patients.

The Thalassemia Foundation of Canada
Originally formed as a parent support group, the Thalassemia Foundation of Canada provides education, gives medical grants for research, and helps patients with unmet medical needs.

Impact Children Foundation
The goal of the Impact Children Foundation (ICF) is to create awareness of thalassemia in high-risk communities and advance medical research dedicated towards finding an effective cure and safe treatment of this illness.

Berloni Foundation for the Control of Thalassemia
Located in Pesaro, Italy, the foundation provides support for research on bone marrow transplantation for curing beta thalassemia.

Thalassemia International Federation
This organization supports national thalassemia associations in their efforts to lobby for research and improved treatments, as well as to prevent affected births through education, genetic screening, and counseling.

Centers of Excellence for Thalassemia Research
Each of these hospitals has a research and treatment program devoted to thalassemia:
Children's Hospital Boston
Children's Hospital Oakland
Children's Hospital Of Philadelphia
The Hospital for Sick Children (Toronto)
NewYork-Presbyterian Hospital

National Heart, Lung and Blood Institute
An agency of the National Institutes of Health, the NHLBI provides leadership and research funding for diseases of the heart, blood vessels, lung, and blood.


Publications

Adamsky, K., O. Weizer, N. Amariglio et al. 2004. Decreased hepcidin mRNA expression in thalassemic mice. Br. J. Haematol. 124: 123-124.

Aessopos, A., D. Farmakis, S. Deftereos et al. 2005. Thalassemia heart disease: a comparative evaluation of thalassemia major and thalassemia intermedia. Chest. 127: 1523-1530.

Alymara, V., D. Bourantas, A. Chaidos et al. 2004. Effectiveness and safety of combined iron-chelation therapy with deferoxamine and deferiprone. Hematol. J. 5: 475-479.

Anderson, L. J., S. Holden, B. Davis et al. 2001. Cardiovascular T2-star (T2*) magnetic resonance for the early diagnosis of myocardial iron overload. Eur. Heart J. 22: 2171-2179. Full Text (PDF, 2.02 MB)

Anderson, L. J., M. A. Westwood, S. Holden et al. 2004. Myocardial iron clearance during reversal of siderotic cardiomyopathy with intravenous desferrioxamine: a prospective study using T2* cardiovascular magnetic resonance. Br. J. Haematol. 127: 348-355.

Anguita, E., J. Hughes, C. Heyworth et al. 2004. Globin gene activation during haemopoiesis is driven by protein complexes nucleated by GATA-1 and GATA-2. EMBO J. 23: 2841-2852. Full Text

Berube, N. G., M. Mangelsdorf, M. Jagla et al. 2005. The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis. J. Clin. Invest. 115: 258-267. Full Text

Borgna-Pignatti, C., S. Rugolotto, P. De Stefano et al. 2004. Survival and complications in patients with thalassemia major treated with transfusion and deferoxamine. Haematologica. 89: 1187-1193. Full Text (PDF, 256 KB)

Brittenham, G. M., D. G. Nathan, N. F. Olivieri et al. 2003. Deferiprone versus desferrioxamine in thalassaemia, and T2* validation and utility. Lancet. 361: 183-184.

Butensky, E., R. Fischer, M. Hudes et al. 2005. Variability in hepatic iron concentration in percutaneous needle biopsy specimens from patients with transfusional hemosiderosis. Am. J. Clin. Pathol. 123: 146-152.

Cappellini, M. D. 2005. Overcoming the challenge of patient compliance with iron chelation therapy. Semin. Hematol. 42: S19-21.

Cappellini, M. D. 2005. Iron-chelating therapy with the new oral agent ICL670 (Exjade). Best. Pract. Res. Clin. Haematol. 18: 289-298.

Cohen, A. R., R. Galanello, E. Vichinsky et al. 2004. Thalassemia. Hematology (American Society of Hematology Education Program Book) 14-34. Full Text

Chui, D. H., S. Fucharoen & V. Chan. 2003. Hemoglobin H disease: not necessarily a benign disorder. Blood. 101: 791-800. Full Text

Cunningham, M. J., E. A. Macklin, E. J. Neufeld et al. 2004. Complications of β thalassemia major in North America. Blood. 104: 34-39. Full Text

Cunningham, M. J. & D. G. Nathan. 2005. New developments in iron chelators.Curr. Opin. Hematol. 12: 129-34.

Feng, L., D. A. Gell, S. Zhou et al. 2004. Molecular mechanism of AHSP-mediated stabilization of α-hemoglobin. Cell. 119: 629-640.

Fischer, R., F. Longo, P. Nielsen. 2003. Monitoring long-term efficacy of iron chelation therapy by deferiprone and desferrioxamine in patients with β-thalassaemia major: application of SQUID biomagnetic liver susceptometry. Br. J. Haematol. 121: 938-948.

Galanello, R. 2003. A thalassemic child becomes adult. Rev. Clin. Exp. Hematol. 7: 4-21.

Gandon, Y., D. Olivie, D. Guyader et al. 2004. Non-invasive assessment of hepatic iron stores by MRI. Lancet. 363: 357-362.

Gaziev, J. & G. Lucarelli. 2005. Stem cell transplantation for thalassaemia. Reprod. Biomed. Online. 10: 111-115.

Haacke, E. M., N. Y. Cheng, M. J. House et al. 2005. Imaging iron stores in the brain using magnetic resonance imaging. Magn. Reson. Imaging. 23: 1-25.

Hanawa, H., P. W. Hargrove, S. Kepes. 2004. Extended β-globin locus control region elements promote consistent therapeutic expression of a γ-globin lentiviral vector in murine β thalassemia. Blood. 104: 2281-2290.

Hershko, C., M. D. Cappellini & R. Galanello 2004. Purging iron from the heart.Br. J. Haematol. 125: 545-551.

Hershko, C., G. M. Link, A. M. Konijn et al. 2005. Iron chelation therapy.Curr. Hematol. Rep. 4: 110-116.

Higgs, D. R. 2004. Gene regulation in hematopoiesis: new lessons from thalassemia.Hematology (Am. Soc. Hematol. Educ. Program) 1-13. Full Text

Hongeng, S., S. Pakakasama & W. Chaisiripoomkere. 2004. Outcome of transplantation with unrelated donor bone marrow in children with severe thalassaemia. Bone Marrow Transplant 33: 377-379. Full Text

Horan, J. T., J. L. Liesveld, P. Fenton et al. 2005. Hematopoietic stem cell transplantation for multiply transfused patients with sickle cell disease and thalassemia after low-dose total body irradiation, fludarabine, and rabbit anti-thymocyte globulin. Bone Marrow Transplant. 35: 171-177. Full Text

Ikeda, M., M. Sekimoto, S. Takiguchi et al. 2005. High incidence of thrombosis of the portal venous system after laparoscopic splenectomy: a prospective study with contrast-enhanced CT scan. Ann. Surg. 241: 208-216.

Imren, S., M. E. Fabry, K. A. Westerman et al. 2004. High-level β-globin expression and preferred intragenic integration after lentiviral transduction of human cord blood stem cells. J. Clin. Invest. 114: 953-962. Full Text

Kattamis, A, C. Kassou, H. Berdousi et al. 2003. Combined therapy with desferrioxamine and deferiprone in thalassemic patients: effect on urinary iron excretion. Haematologica. 88: 1423-1425. Full Text (PDF, 38 KB)

Lal, A. & E. Vichinsky. 2004. The role of fetal hemoglobin-enhancing agents in thalassemia. Semin. Hematol. 41: 17-22.

Littera, R., G. La Nasa, G. Derchi et al. 2002. Long-term treatment with sildenafil in a thalassemic patient with pulmonary hypertension. Blood. 100: 1516-1517. Full Text

Locatelli, F., V. Rocha, W. Reed et al. 2003. Related umbilical cord blood transplantation in patients with thalassemia and sickle cell disease. Blood. 101: 2137-2143. Full Text

Lin, E. E., M. T. Gladwin & R. F. Machado. 2005. Pulmonary hypertension in patients with hemoglobinopathies: could a mechanism for dysfunction provide an avenue for novel therapeutics? Haematologica. 90: 441-444. Full Text

Liu, X. & E. C. Theil. 2005. Ferritin: dynamic management of biological iron and oxygen chemistry. Acc. Chem. Res. 38: 167-175.

Lowrey, C. H. & A. W. Nienhuis. 1993. Brief report: treatment with azacytidine of patients with end-stage-thalassemia. N. Engl. J. Med. 329: 845-884.

Luo, H. Y., J. Boudreaux, M. H. Steinberg et al. 2005. Patients with thalassemia in the United States. Blood. 105: 4896-4897.

Naithani, R., J. Chandra & S. Sharma. 2005. Safety of oral iron chelator deferiprone in young thalassaemics. Eur. J. Haematol. 74: 217-220.

Nielsen, P., R. Engelhardt, M. Duerken et al. 2000. Using SQUID biomagnetic liver susceptometry in the treatment of thalassemia and other iron loading diseases. Transfus. Sci. 23: 257-258.

Puthenveetil, G., J. Scholes, P. Malik et al. 2004. Successful correction of the human β-thalassemia major phenotype using a lentiviral vector. Blood. 104: 3445-3453. Full Text

Rechitsky, S., A. Kuliev, I. Tur-Kaspa et al. 2004. Preimplantation genetic diagnosis with HLA matching. Reprod. Biomed. Online. 9: 210-221.

Sadelain, M., S. Rivella, L. Lisowski et al. 2004. Globin gene transfer for treatment of the β-thalassemias and sickle cell disease. Best Pract. Res. Clin. Haematol. 17: 517-534.

Schrier, S. L. & E. Angelucci. 2005. New strategies in the treatment of the thalassemias. Annu. Rev. Med. 56: 157-171.

St. Pierre, T. G., P. R. Clark, W. Chua-anusorn et al. 2005. Non-invasive measurement and imaging of liver iron concentrations using proton magnetic resonance. Blood. 105: 855-861.

Taher, A., Y. Abou-Mourad, A. Abchee et al. 2002. Pulmonary thromboembolism in β-thalassemia intermedia: are we aware of this complication? Hemoglobin. 26: 107-112.

Theil, E. C. 2004. Iron, ferritin, and nutrition. Annu. Rev. Nutr. 24: 327-343.

Tolhuis, B., R. J. Palstra, E. Splinter et al. 2002. Looping and interaction between hypersensitive sites in the active β-globin locus. Mol. Cell. 10: 1453-1465.

Verlinsky, Y., N. Strelchenko, V. Kukharenko et al. 2005. Human embryonic stem cell lines with genetic disorders. Reprod. Biomed. Online. 10: 105-110.

Viprakasit V., V. S. Tanphaichitr, W. Chinchang et al. 2004. Evaluation of α hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with beta thalassemia. Blood. 103: 3296-3299. Full Text

Vogiatzi, M. G., K. A. Autio, R. Schneider et al. 2004. Low bone mass in prepubertal children with thalassemia major: insights into the pathogenesis of low bone mass in thalassemia. J. Pediatr. Endocrinol. Metab. 17: 1415-1421.

Weinberg, R. S., X. Ji, M. Sutton et al. 2005. Butyrate increases the efficiency of translation of γ-globin mRNA. Blood. 105: 1807-1809.

Westwood, M. A., M. N. Sheppard, M. Awogbade et al. 2005. Myocardial biopsy and T2* magnetic resonance in heart failure due to thalassaemia. Br. J. Haematol. 128: 2.

Westwood, M. A. et al. 2005. T2* Ejection Volume is well-predicted by cardiac T2*. J. Cardio. Mag. Reson. 7: 46-47.

Wood, J. C., C. Enriquez, N. Ghugre et al. 2005. MRI R2 and R2* mapping accurately estimates hepatic iron concentration in transfusion-dependent thalassemia and sickle-cell disease patients. Blood. April 28. [Epub ahead of print]


Books

Cappellini, Nica, Alan Cohen, Androulla Eleftheriou et al. eds. 2002. Guidelines for the Clinical Management of Thalassaemia. Thalassaemia International Federation, Nicosia, Cyprus.

Eleftheriou, Androulla ed. 2002. Compliance to Iron Chelation Therapy with Desferrioxamine. Thalassaemia International Federation, Nicosia, Cyprus.

Eleftheriou, Androulla. 2003. About Thalassaemia. Thalassaemia International Federation, Nicosia, Cyprus.

Okpala, Iheanyi E., ed. 2004. Practical management of haemoglobinopathies. Blackwell Pub., Malden, Mass.

Rodgers, Griffin P. & Neal S. Young, ed. 2005. Bethesda handbook of clinical hematology. Lippincott Williams & Wilkins, Philadelphia.

Organizers

Elliott Vichinsky, MD

Children's Hospital and Research Center at Oakland, Oakland, California
email | web site | publications

Elliot Vichinsky is director of the Department of Hematology/Oncology at Children's Hospital and Research Center at Oakland. His research on thalassemia includes the study of iron metabolism, transfusion medicine, and fetal hemoglobin regulation. To better understand thalassemia-related iron toxicity, Dr. Vichinsky is exploring the role of inflammation on iron deposition and organ damage. He is conducting a comparison of iron toxicity in thalassemia and sickle cell anemia, and is evaluating new technologies to detect early iron-induced organ injury. Dr. Vichinsky is also involved in a collaborative study of thalassemia involving centers in Oakland, London, Toronto, and Sri Lanka. He is a principal investigator or co-investigator on several other thalassemia-related trials involving patients.

Prior to becoming director of the Department of Hematology/Oncology in 1995, Dr. Vichinsky served in several capacities as a researcher and clinician at the Children's Hospital and Research Center at Oakland beginning in 1981. He received his B.S. from the University of Wisconsin, Madison and his M.D. from State University of New York Downstate in Brooklyn.

Jayne Restivo

Cooley's Anemia Foundation, New York
email | web site

Jayne Restivo has served the Cooley's Anemia Foundation as National Executive Director since 2000. In that capacity, she has overseen broad changes in the administration of the Foundation and in the implementation of the Foundation's goals. Ms Restivo's responsibilities include synergizing the efforts of the National CAF office and the numerous CAF chapters throughout the country. She has been instrumental in the establishment of both the Thalassemia Clinical Research Network and the CDC's Thalassemia Prevention Education and Outreach initiative, and in restoration of funding for thalassemia-based programs for the Maternal and Child Health Bureau.

Ms. Restivo formerly served as Vice President of Development for one of the oldest and largest foster care agencies in New York. Prior to this, she served as Executive Director/Vice President of Youth Programs for the American Heart Association, where she directed fundraising activities, educational programs and research and development projects. Ms. Restivo received a Kennedy fellowship to Fordham University, where she graduated with a B.S., and earned her M.S. from the College of New Rochelle.


Keynote Speaker

Sir David Weatherall, MD, FRS

John Radcliffe Hospital
Weatherall Institute of Molecular Medicine
email | web site | publications


Speakers

Athanasios Aessopos MD, PhD

University of Athens Medical School
First Department of Internal Medicine
email | publications

Daniel Armstrong, PhD

University of Miami School of Medicine
Department of Pediatrics (D-820)
email | web site

George F. Atweh, MD

Mount Sinai School of Medicine
Division of Hematology/Oncology
email | web site | publications

Arthur Bank, MD

Columbia University
Department of Medicine and Genetics and Development
email | web site

Caterina Borgna-Pignatti, MD

University of Ferrara
Department of Pediatrics
email

Gary M. Brittenham, MD

Columbia University Medical Center
Department of Pediatrics
email

Maria Domenica Cappellini

University of Milan
Department of Internal Medicine
email | publications

David H.K. Chui, MD

Boston University School of Medicine
Department of Medicine and Pathology
email | publications

Alan Cohen, MD

The Childrens Hospital of Philadelphia
Department of Hematology
email | publications

Laurice Compagno, MA, CCLS

Children's Hospital Oakland Research Institute
Department of Hematology/Oncology
email | publications

Roland Fischer, PhD

University Clinic Hamburg-Eppendorf
Departments of Pediatric Hematology and Oncology
email | publications

Suthat Fucharoen, MD

Institute of Science and Technology for Research and Development
Thalassemia Research Center
email | publications

Renzo Galanello, MD

Universita degli studi di Cagliari
Ospedale Microcitemico
email | publications

Javid Gaziev, MD

Mediterranean Institute of Hematology
International Center for Transplantation in Thalassemia and in Sickle Cell Anemia
email | publications

Patricia J. Giardina, MD

New York Presbyterian Hospital
Department of Pediatric Hematology/Oncology
email | web site | publications

Mark T. Gladwin, MD

National Institute of Diabetes & Digestive & Kidney Diseases
Laboratory of Chemical Biology
email | web site | publications

Robert W. Grady, PhD

Weill Medical College of Cornell University
Department of Pediatrics
email | publications

Frank Grosveld, PhD

Erasmus Medical Center
Department of Cell Biology
email | web site | publications

Paul Harmatz, MD

Children's Hospital Oakland
Department of Gastroenterology
email | publications

Chaim Hershko, MD

Shaare Zedek Medical Center
Department of Hematology
email | publications

Robert C. Hider, PhD

King's College London
Department of Pharmacy
email | publications

Douglas R. Higgs, MD

Weatherall Institute of Molecular Medicine
MRC Molecular Hematology Unit
email | publications

Antonis Kattamis, MD

University of Athens
First Department of Pediatrics
email | publications

Anver Kouliev, MD, PhD

Reproductive Genetics Institute
email

Frans A. Kuypers, PhD

Children's Hospital Oakland Research Institute
email | publications

Philippe Leboulch, MD

Harvard Medical School and Brigham & Women's Hospital
Division of Genetics, Department of Medicine
email | web site | publications

Giorgio La Nasa, MD

R. Binaghi Hospital
Bone Marrow Transplant Unit
email | publications

Fred Lorey, PhD

California Department of Health Services
Department of Genetics
email | publications

Naomi L.C. Luban, MD

Children's National Medical Center
Department of Laboratory Medicine and Pathology
email | publications

Punam Malik, MD

Childrens Hospital Los Angeles, USC
Department of Hematology-Oncology
email | web site | publications

David I.K. Martin, MD

Victor Chang Cardiac Research Institute
Children's Hospital Oakland Research Institute
email | web site | publications

Marie Martin, RN

The Childrens Hospital of Philadelphia
Department of Hematology
email | publications

David G. Nathan, MD

Dana-Farber Cancer Institute
Department of Pediatric Oncology
email | web site | publications

Ellis Neufeld, MD, PhD

Children's Hospital Boston
email | web site | publications

Arthur Nienhuis, MD

St. Jude's Children's Research Hospital
email | web site | publications

Gargi Pahuja, MPH, JD

Thalassemia Action Group
email

Dudley Pennell, FRCP, MD

Royal Brompton Hospital
Cardiovascular MR Unit
email | web site | publications

Susan P. Perrine, MD

Boston University School of Medicine
Hemoglobinopathy-Thalassemia Research Unit
email | publications

Charles M. Peterson, MD

National Heart, Lung, and Blood Institute
Program Director
email | publications

Antonio Piga, MD

University of Torino
Department of Pediatrics
email | publications

Sergio Piomelli, MD

Columbia University
Pediatric Hematology Laboratory
email | publications

John B. Porter, MD

University College London
Department of Hematology
email | publications

Vinod K. Prasad, MD, MRCP

Duke University Medical Center
Department of Pediatrics
email | web site | publications

Eliezer Rachmilewitz, MD

The Edith Wolfson Medical Center
Hematology Department
email | publications

Jayne Restivo

Cooley's Anemia Foundation
National Executive Director
email | web site | publications

Griffin P. Rodgers, MD

National Institute of Diabetes & Digestive & Kidney Diseases
Molecular and Clinical Hematology Branch
email | web site | publications

Michel Sadelain, MD, PhD

Memorial Sloan-Kettering Cancer Center
email | web site | publications

Tim St. Pierre, PhD

The University of Western Australia
School of Physics (M013)
email | web site | publications

Rashid Shaikh, PhD

New York Academy of Sciences
Director of Programs
email | publications

Sylvia Titi Singer, MD

Children's Hospital and Research Center at Oakland
Department of Pediatric Hematology/Oncology
email | publications

Frank Somma

Cooley's Anemia Foundation
President
email

Virginia A. Stallings, MD

Children's Hospital of Philadelphia and the University of Pennsylvania
Department of Pediatrics
email | web site | publications

Paul Telfer, DM, FRCP

St. Bartholomews and The Royal London Hospitals NHS Trust
and Queen Mary, University of London
Department of Hematology
email | publications

Elizabeth C. Theil, PhD

Children's Hospital Oakland Research Institute
email | publications

Tim M. Townes, PhD

University of Alabama at Birmingham
Department of Biochemistry and Molecular Genetics
email | publications

Elliott Vichinsky, MD

Children's Hospital and Research Center at Oakland
Department of Hematology/Oncology
email | publications

Mark Walters, MD

Children's Hospital and Research Center at Oakland
Blood and Marrow Transplantation Program
email | publications

Mitchell J. Weiss, MD, PhD

The Childrens Hospital of Philadelphia
Department of Pediatrics/Hematology
email | web site | publications

John C. Wood, MD, PhD

Childrens Hospital of Los Angeles
Division of Cardiology
email | web site | publications