Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

Research output: Contribution to journalReview article

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Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. / Vlachos, Adrianna; Ball, Sarah; Dahl, Niklas; Alter, Blanche P.; Sheth, Sujit; Ramenghi, Ugo; Meerpohl, Joerg; Karlsson, Stefan; Liu, Johnson M.; Leblanc, Thierry; Paley, Carole; Kang, Elizabeth M.; Leder, Eva Judmann; Atsidaftos, Eva; Shimamura, Akiko; Bessler, Monica; Glader, Bertil; Lipton, Jeffrey M.

In: British Journal of Haematology, Vol. 142, No. 6, 2008, p. 859-876.

Research output: Contribution to journalReview article

Harvard

Vlachos, A, Ball, S, Dahl, N, Alter, BP, Sheth, S, Ramenghi, U, Meerpohl, J, Karlsson, S, Liu, JM, Leblanc, T, Paley, C, Kang, EM, Leder, EJ, Atsidaftos, E, Shimamura, A, Bessler, M, Glader, B & Lipton, JM 2008, 'Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference', British Journal of Haematology, vol. 142, no. 6, pp. 859-876. https://doi.org/10.1111/j.1365-2141.2008.07269.x

APA

CBE

Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM. 2008. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. British Journal of Haematology. 142(6):859-876. https://doi.org/10.1111/j.1365-2141.2008.07269.x

MLA

Vancouver

Author

Vlachos, Adrianna ; Ball, Sarah ; Dahl, Niklas ; Alter, Blanche P. ; Sheth, Sujit ; Ramenghi, Ugo ; Meerpohl, Joerg ; Karlsson, Stefan ; Liu, Johnson M. ; Leblanc, Thierry ; Paley, Carole ; Kang, Elizabeth M. ; Leder, Eva Judmann ; Atsidaftos, Eva ; Shimamura, Akiko ; Bessler, Monica ; Glader, Bertil ; Lipton, Jeffrey M. / Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. In: British Journal of Haematology. 2008 ; Vol. 142, No. 6. pp. 859-876.

RIS

TY - JOUR

T1 - Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

AU - Vlachos, Adrianna

AU - Ball, Sarah

AU - Dahl, Niklas

AU - Alter, Blanche P.

AU - Sheth, Sujit

AU - Ramenghi, Ugo

AU - Meerpohl, Joerg

AU - Karlsson, Stefan

AU - Liu, Johnson M.

AU - Leblanc, Thierry

AU - Paley, Carole

AU - Kang, Elizabeth M.

AU - Leder, Eva Judmann

AU - Atsidaftos, Eva

AU - Shimamura, Akiko

AU - Bessler, Monica

AU - Glader, Bertil

AU - Lipton, Jeffrey M.

PY - 2008

Y1 - 2008

N2 - Diamond Blackfan anaemia (DBA) is a rare, genetically and clinically heterogeneous, inherited red cell aplasia. Classical DBA affects about seven per million live births and presents during the first year of life. However, as mutated genes have been discovered in DBA, non-classical cases with less distinct phenotypes are being described in adults as well as children. In caring for these patients it is often difficult to have a clear understanding of the treatment options and their outcomes because of the lack of complete information on the natural history of the disease. The purpose of this document is to review the criteria for diagnosis, evaluate the available treatment options, including corticosteroid and transfusion therapies and stem cell transplantation, and propose a plan for optimizing patient care. Congenital anomalies, mode of inheritance, cancer predisposition, and pregnancy in DBA are also reviewed. Evidence-based conclusions will be made when possible; however, as in many rare diseases, the data are often anecdotal and the recommendations are based upon the best judgment of experienced clinicians. The recommendations regarding the diagnosis and management described in this report are the result of deliberations and discussions at an international consensus conference.

AB - Diamond Blackfan anaemia (DBA) is a rare, genetically and clinically heterogeneous, inherited red cell aplasia. Classical DBA affects about seven per million live births and presents during the first year of life. However, as mutated genes have been discovered in DBA, non-classical cases with less distinct phenotypes are being described in adults as well as children. In caring for these patients it is often difficult to have a clear understanding of the treatment options and their outcomes because of the lack of complete information on the natural history of the disease. The purpose of this document is to review the criteria for diagnosis, evaluate the available treatment options, including corticosteroid and transfusion therapies and stem cell transplantation, and propose a plan for optimizing patient care. Congenital anomalies, mode of inheritance, cancer predisposition, and pregnancy in DBA are also reviewed. Evidence-based conclusions will be made when possible; however, as in many rare diseases, the data are often anecdotal and the recommendations are based upon the best judgment of experienced clinicians. The recommendations regarding the diagnosis and management described in this report are the result of deliberations and discussions at an international consensus conference.

KW - cancer predisposition

KW - Diamond Blackfan anaemia

KW - bone marrow failure

KW - genetics

KW - treatment

U2 - 10.1111/j.1365-2141.2008.07269.x

DO - 10.1111/j.1365-2141.2008.07269.x

M3 - Review article

VL - 142

SP - 859

EP - 876

JO - British Journal of Haematology

T2 - British Journal of Haematology

JF - British Journal of Haematology

SN - 0007-1048

IS - 6

ER -