Chapter category: Hematology
Clinical Features of Fanconi Anaemia
Molecular Mechanisms of Fanconi Anemia
Edited by: Shamim I. Ahmad and Sandra H. KirkISBN: 0-387-31972-7
» Get more information about this book at landesbioscience.com «
Chapter authors:
A. Malcolm R. Taylor
Fanconi anaemia is an autosomal recessive disorder in which patients develop bone mar row failure and aplastic anaemia but this can occur at widely differing ages from the first year to age 12 years or more. This means that often the diagnosis is made before the onset of any haematological abnormality is apparent. Many, but not all, FA patients have quite severe congenital abnormalities and so the unusual sensitivity of FA peripheral blood lymphocytes to DNA crosslinking agents has been an important part of the diagnosis in FA. FA patients, however, may have neither bone marrow failure nor congenital abnormalities, when a diagnosis of FA is suspected and this has led to occasional confusion with Nijmegen Breakage Syndrome where there is also unusual sensitivity to DNA crosslinking agents. In contrast cells from FA patients, with some rare exceptions, do not show an increased sensitivity to ionising radiation. The absence of particular FANC proteins can result in a more severe phenotype; for example the predisposition to both the presence of congenital abnormalities with early diagnosis in patients with FANCD2 mutations and very early onset of myeloid or lymphoid leukaemia as well as carcinomas in the case of patients with FANCD1 mutations. The pathogenesis of bone marrow failure and congenital abnormalities is not understood in the context of the loss of particular FANC proteins. In addition, the number of genes identified is fairly large and their exact roles in the FA pathways have not yet been fully worked out. Although the cellular targets for these different FA proteins and the FA pathway have not yet been elucidated there appears to be a role for the FA proteins in homology directed repair of DNA double strand breaks.
Additional chapters from this book:
Fanconi Anaemia and Oxidative Stress: Cellular and Clinical Phenotypes
Giovanni Pagano and Shamim I. Ahmad
The cellular and clinical phenotypes of Fanconi Anaemia (FA) have been associated with a set of redox abnormalities using evidence arising from in vitro, in vivo and molecular studies. The available i...
Clinical Features of Fanconi Anaemia
A. Malcolm R. Taylor
Fanconi anaemia is an autosomal recessive disorder in which patients develop bone mar row failure and aplastic anaemia but this can occur at widely differing ages from the first year to age 12 years...
The Genetic Basis of Fanconi Anemia
Grover C. Bagby, Jr.
Seventy-five years ago, Dr. Guido Fanconi reported three siblings who exhibited both congenital defects and aplastic anemia.1 Since then, we have learned that Fanconi anemia (FA) is a rare multigeni...
The FANC B, E, F and G Genes and their Products
Filippo Rosselli
The rare autosomal recessive syndrome Fanconi anemia (FA) leads to bone marrow failure and malignancy predisposition. Moreover, patients may present with several congenital anomalies of the skeleton...
The FANCA Gene and its Products
L. S. Haneline
Fanconi anemia (FA), type A is the most common FA complementation type with muta tions in the FANCA gene accounting for approximately 65% of cases.1,2 The FANCA protein is recognized as an integral ...
FANCD1/BRCA2 and FANCD2
Gary M.Kupfer
The field of FA was both excited as well as surprised when the first cloned genes encoded proteins that resembled no known protein motif. Several binding proteins were described, yet no biochemical ...
The FANC Genome Surveillance Complex
Takayuki Yamashita
FA is an autosomal recessive genetic disorder characterized by progressive bone marrow failure, congenital anomalies and susceptibility to hematological and solid malignancies. The most consistent f...
Mutational Analyses of Fanconi Anemia Genes in Japanese Patients
Akira Tachibana
Fanconi anemia (FA) is an autosomal recessive disorder characterized by a progressive pancytopenia associated with congenital anomalies and high predisposition to malig nancies.1 Certain FA cell lin...
Therapy for Fanconi Anemia
Madeleine Carreau
Treatment of the hematological manifestation in Fanconi anemia is first supportive (trans fusions) with attempts to stimulate hematopoiesis with either androgens, usually oxymetholone, or the hemato...
Other Proteins and Their Interactions With FA Gene Products
Tetsuya Otsuki, Johnson M. Liu
Fanconi anemia (FA) is a genetically heterogeneous disorder, consisting of at least eight complementation groups (FA-A, -B, -C, -D1, -D2, -E, -F and –G).1-3 To date, seven FA genes, FANC-A, -C, -D1 ...
The FANCC Gene and its Products
Susan M. Gordon and Manuel Buchwald
Fanconi anaemia (FA) is an autosomal recessive disorder characterized by progressive pancytopaenia and predisposition to malignancy, often accompanied by congenital malformations. The cellular pheno...
