Hematology
Chapters
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 or more. This means that often the diagnosis is made before the onset of any haematological abnorm...
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 function could be discerned. Now, 11 years after the cloning of FANCC, we have in hand 8 FA genes, ...
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 information points to: (i) the influence of oxygen and antioxidants in chromosomal instability and in...
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 lines are hypersensitive to DNA cross-linking agents such as mitomycin C (MMC) and diepoxybutane (DEB)...
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 (BRCA2), -D2, -E, -F and –G, have been identified, but the function of each gene product remains un...
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 and genito-urinary tract, growth retardation and hyperpigmentation of the skin. Cells from FA pati...
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 feature of FA cells is their hypersensitivity to DNA cross-linking agents such as diepoxybutane (DEB...
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 component of the multimeric FA protein nuclear complex, which participates in activation of the ubi...
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 phenotype of FA includes increased chromosomal instability and accumulation in the G2 phase of the cell ...
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 multigenic disorder (a prevalence of 1-5 per million2), that predisposes children and adults to life-threate...
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 hematopoietic growth factor granulocyte-colony stimulating factor (G-CSF), all of which are aimed at tran...
