Bone marrow failure syndromes

Zora R. Rogers, Blanche P. Alter

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Introduction. Florid bone marrow failure, i.e., progressive pancytopenia or markedly decreased production of red cells, white cells and platelets, is rare in the neonate. However, inherited bone marrow failure syndromes (IBMFS), which account for up to one-third of cases of aplastic anemia in childhood (1), may offer clues in the first year of life that can lead to definitive testing for and early diagnosis of these severe disorders. Evaluation for an IBMFS should be considered when either the physical appearance of the child includes congenital anomalies that are commonly associated with marrow failure syndromes despite normal blood counts (Table 5.1), or cytopenias due to decreased bone marrow production are present whether or not birth defects are appreciated (Table 5.2). Suspicion of an IBMFS is necessary for early diagnosis, early referral to specialty care, and genetic counseling with regard to future pregnancies. After diagnosis, parents may pursue prenatal diagnosis in utero, or in vitro fertilization with pre-implantation genetic diagnosis to result in the birth of an unaffected child who could be a tissue match for the patient, thus permitting collection of cord blood for hematopoietic stem cell transplantation (HSCT). Many of these syndromes have a significant risk for development of a malignancy, even within the first year of life, emphasizing the need for early surveillance for leukemia and solid tumors.

Original languageEnglish (US)
Title of host publicationNeonatal Hematology: Pathogenesis, Diagnosis, and Management of Hematologic Problems, Second Edition
PublisherCambridge University Press
Pages47-64
Number of pages18
ISBN (Print)9780511978135, 9780521119313
DOIs
StatePublished - Jan 1 2010

Fingerprint

Bone Marrow
Early Diagnosis
Cord Blood Stem Cell Transplantation
Pancytopenia
Aplastic Anemia
Hematopoietic Stem Cell Transplantation
Genetic Counseling
Fertilization in Vitro
Prenatal Diagnosis
Neoplasms
Leukemia
Referral and Consultation
Blood Platelets
Parents
Parturition
Newborn Infant
Pregnancy
Bone Marrow failure syndromes
Body Physical Appearance

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Rogers, Z. R., & Alter, B. P. (2010). Bone marrow failure syndromes. In Neonatal Hematology: Pathogenesis, Diagnosis, and Management of Hematologic Problems, Second Edition (pp. 47-64). Cambridge University Press. https://doi.org/10.1017/CBO9780511978135.007

Bone marrow failure syndromes. / Rogers, Zora R.; Alter, Blanche P.

Neonatal Hematology: Pathogenesis, Diagnosis, and Management of Hematologic Problems, Second Edition. Cambridge University Press, 2010. p. 47-64.

Research output: Chapter in Book/Report/Conference proceedingChapter

Rogers, ZR & Alter, BP 2010, Bone marrow failure syndromes. in Neonatal Hematology: Pathogenesis, Diagnosis, and Management of Hematologic Problems, Second Edition. Cambridge University Press, pp. 47-64. https://doi.org/10.1017/CBO9780511978135.007
Rogers ZR, Alter BP. Bone marrow failure syndromes. In Neonatal Hematology: Pathogenesis, Diagnosis, and Management of Hematologic Problems, Second Edition. Cambridge University Press. 2010. p. 47-64 https://doi.org/10.1017/CBO9780511978135.007
Rogers, Zora R. ; Alter, Blanche P. / Bone marrow failure syndromes. Neonatal Hematology: Pathogenesis, Diagnosis, and Management of Hematologic Problems, Second Edition. Cambridge University Press, 2010. pp. 47-64
@inbook{4e1ab5b38f9141a094a4d9d6cc4f4c8b,
title = "Bone marrow failure syndromes",
abstract = "Introduction. Florid bone marrow failure, i.e., progressive pancytopenia or markedly decreased production of red cells, white cells and platelets, is rare in the neonate. However, inherited bone marrow failure syndromes (IBMFS), which account for up to one-third of cases of aplastic anemia in childhood (1), may offer clues in the first year of life that can lead to definitive testing for and early diagnosis of these severe disorders. Evaluation for an IBMFS should be considered when either the physical appearance of the child includes congenital anomalies that are commonly associated with marrow failure syndromes despite normal blood counts (Table 5.1), or cytopenias due to decreased bone marrow production are present whether or not birth defects are appreciated (Table 5.2). Suspicion of an IBMFS is necessary for early diagnosis, early referral to specialty care, and genetic counseling with regard to future pregnancies. After diagnosis, parents may pursue prenatal diagnosis in utero, or in vitro fertilization with pre-implantation genetic diagnosis to result in the birth of an unaffected child who could be a tissue match for the patient, thus permitting collection of cord blood for hematopoietic stem cell transplantation (HSCT). Many of these syndromes have a significant risk for development of a malignancy, even within the first year of life, emphasizing the need for early surveillance for leukemia and solid tumors.",
author = "Rogers, {Zora R.} and Alter, {Blanche P.}",
year = "2010",
month = "1",
day = "1",
doi = "10.1017/CBO9780511978135.007",
language = "English (US)",
isbn = "9780511978135",
pages = "47--64",
booktitle = "Neonatal Hematology: Pathogenesis, Diagnosis, and Management of Hematologic Problems, Second Edition",
publisher = "Cambridge University Press",

}

TY - CHAP

T1 - Bone marrow failure syndromes

AU - Rogers, Zora R.

AU - Alter, Blanche P.

PY - 2010/1/1

Y1 - 2010/1/1

N2 - Introduction. Florid bone marrow failure, i.e., progressive pancytopenia or markedly decreased production of red cells, white cells and platelets, is rare in the neonate. However, inherited bone marrow failure syndromes (IBMFS), which account for up to one-third of cases of aplastic anemia in childhood (1), may offer clues in the first year of life that can lead to definitive testing for and early diagnosis of these severe disorders. Evaluation for an IBMFS should be considered when either the physical appearance of the child includes congenital anomalies that are commonly associated with marrow failure syndromes despite normal blood counts (Table 5.1), or cytopenias due to decreased bone marrow production are present whether or not birth defects are appreciated (Table 5.2). Suspicion of an IBMFS is necessary for early diagnosis, early referral to specialty care, and genetic counseling with regard to future pregnancies. After diagnosis, parents may pursue prenatal diagnosis in utero, or in vitro fertilization with pre-implantation genetic diagnosis to result in the birth of an unaffected child who could be a tissue match for the patient, thus permitting collection of cord blood for hematopoietic stem cell transplantation (HSCT). Many of these syndromes have a significant risk for development of a malignancy, even within the first year of life, emphasizing the need for early surveillance for leukemia and solid tumors.

AB - Introduction. Florid bone marrow failure, i.e., progressive pancytopenia or markedly decreased production of red cells, white cells and platelets, is rare in the neonate. However, inherited bone marrow failure syndromes (IBMFS), which account for up to one-third of cases of aplastic anemia in childhood (1), may offer clues in the first year of life that can lead to definitive testing for and early diagnosis of these severe disorders. Evaluation for an IBMFS should be considered when either the physical appearance of the child includes congenital anomalies that are commonly associated with marrow failure syndromes despite normal blood counts (Table 5.1), or cytopenias due to decreased bone marrow production are present whether or not birth defects are appreciated (Table 5.2). Suspicion of an IBMFS is necessary for early diagnosis, early referral to specialty care, and genetic counseling with regard to future pregnancies. After diagnosis, parents may pursue prenatal diagnosis in utero, or in vitro fertilization with pre-implantation genetic diagnosis to result in the birth of an unaffected child who could be a tissue match for the patient, thus permitting collection of cord blood for hematopoietic stem cell transplantation (HSCT). Many of these syndromes have a significant risk for development of a malignancy, even within the first year of life, emphasizing the need for early surveillance for leukemia and solid tumors.

UR - http://www.scopus.com/inward/record.url?scp=84924130084&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84924130084&partnerID=8YFLogxK

U2 - 10.1017/CBO9780511978135.007

DO - 10.1017/CBO9780511978135.007

M3 - Chapter

AN - SCOPUS:84924130084

SN - 9780511978135

SN - 9780521119313

SP - 47

EP - 64

BT - Neonatal Hematology: Pathogenesis, Diagnosis, and Management of Hematologic Problems, Second Edition

PB - Cambridge University Press

ER -