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Fanconi's anemia

Fanconi anemia (FA) is a rare genetic disease that affects children and adults from all ethnic backgrounds. Named for the Swiss pediatrician who originally described this disorder, Guido Fanconi, FA is characterized by short stature, skeletal anomalies, increased incidence of solid tumors and leukemias, bone marrow failure (aplastic anemia), and cellular sensitivity to DNA damaging agents such as mitomycin C. more...

Fabry's disease
Factor V Leiden mutation
Factor VIII deficiency
Fallot tetralogy
Familial adenomatous...
Familial Mediterranean fever
Familial periodic paralysis
Familial polyposis
Fanconi syndrome
Fanconi's anemia
Farber's disease
Fatal familial insomnia
Fatty liver
Febrile seizure
Fibrodysplasia ossificans...
Fibrous dysplasia
Fissured tongue
Fitz-Hugh-Curtis syndrome
Flesh eating bacteria
Focal dystonia
Foix-Alajouanine syndrome
Follicular lymphoma
Fountain syndrome
Fragile X syndrome
Fraser syndrome
FRAXA syndrome
Friedreich's ataxia
Frontotemporal dementia
Fructose intolerance


FA is primarily a autosomal recessive genetic condition. There are at least 8 genes for which mutations in are known to cause FA: A, C, D1, D2, F, G, L, and B. FANCB is the one exception to FA being autosomal recessive, as this gene is on the X chromosome. For an autosomal recessive disorder, both parents must be carriers in order for a child to inherit the condition. If both parents are carriers, there is a 25% risk with each pregnancy for the mother to have an affected child. Approximately 1,000 persons worldwide presently suffer from the disease. The carrier frequency in the Ashkenazi Jewish population is about 1/90. Genetic counseling and genetic testing is recommended for families that may be carriers of Fanconi anemia.

Because of the failure of the components of the blood - white and red blood cells and platelets - the body cannot successfully combat infection, fatigue or spontaneous hemorrhage or bleeding. Bone marrow transplantation is the accepted treatment to repair the hematological problems associated with FA. Patients face an increased risk of acquiring cancer and other serious health problems throughout their lifetime.


Many patients eventually develop acute myelogenous leukemia (AML). Older patients are extremely likely to develop head and neck, esophageal, gastrointestinal, vulvar and anal cancers. Patients who have had a successful bone marrow transplant and, thus, are cured of the blood problem associated with FA still must have regular examinations to watch for signs of cancer. Many patients do not reach adulthood.

The overarching medical challenge that Fanconi patients face is a failure of their bone marrow to produce blood cells. In addition, Fanconi patients normally are born with a variety of birth defects. For instance, 90% of the Jewish children born with Fanconi's have no thumbs. A good number of Fanconi patients have kidney problems, trouble with their eyes, developmental retardation and other serious defects.


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Couple select healthy embryo to provide stem cells for sister - News
From British Medical Journal, 10/14/00 by Deborah Josefson

A couple in Colorado, United States, has used in vitro fertilisation and preimplantation genetics to produce embryos and have them screened for a child who could be a stem cell and bone marrow donor for their daughter.

The case, which has provoked widespread discussion about the ethical issues involved, is believed to be the first known instance where preimplantation genetics was used both to screen for a disease and to ensure a tissue donor match in a sibling.

The couple's daughter, 6 year old Molly Nash, was born with Fanconi's anaemia. Fanconi's anaemia is a rare, autosomal recessive disease characterised by aplastic anaemia (bone marrow failure of all marrow lineages), brittle chromosomes, and the variable presence of skeletal, cardiac, and renal anomalies.

Additionally, affected persons may have learning difficulties, small facies, gastrointestinal disorders, "cafe au lait" spots, and the development of acute myelogenous leukaemias and other cancers. Untreated, patients do not survive to adulthood.

Definitive treatment of the disorder relies on reconstituting the patient's bone marrow. Bone marrow reconstitution can be accomplished via bone marrow transplantation or umbilical stem cell transplantation. Transplanted umbilical stem cells have the capacity to migrate to the recipient's bone marrow, take up residence there, and differentiate into immune and blood cell precursors.

The procedure is both painless and harmless for the donor, as the cells are harvested from the umbilical cord, which would otherwise be discarded.

In the current case some ethicists are concerned because the parents selectively chose an embryo that would produce a child who could serve as a tissue match donor for their daughter.

The parents, Lisa and Jack Nash, planned on having other children but were hesitant as they both carried the gene for Fanconi's anaemia and had a 25% chance of conceiving another affected child by conventional means.

They underwent several cycles of in vitro fertilisation, and the resultant embryos were tested both for the presence of Fanconi's anaemia and for HLA matching. Embryos that did not meet both criteria were not implanted into the mother. Only two of 15 embryos were perfect tissue matches and free of the disease, and only one survived the implant procedure.

The resultant child, Adam, was born on 29 August, and his umbilical stem cells were transplanted into his sister last week at Fairview University Hospital in Minneapolis, Minnesota. If the procedure is successful, Molly will have an 85% chance of recovery.

Although in this case, the parents wanted another child and the donation procedure was harmless to the infant, many see the case as a harbinger of molecular eugenics.

Full story in News Extra at

Deborah Josefson New York

COPYRIGHT 2000 British Medical Association
COPYRIGHT 2000 Gale Group

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