The titles in this series are intended to provide general information about the topics
In many cases the treatment of individual patients will differ from that described.
At all times patients should rely on the advice of their specialist who is the only person
with full information about their diagnosis and medical history.
This leaflet should be read gene (FA) these are known as FA “A” to
together with the Leukaemia Research FA “E”. The FA “C” gene is being studied
Fund booklet Aplastic Anaemia. intensively in the laboratory. It is now
known on which chromosomes the FA “A”
Fanconi anaemia is a rare and “D” genes are located. They have not
inherited form of aplastic anaemia in which yet been isolated for study.
the bone marrow fails to produce blood
cells normally. The aplastic anaemia is the
most dangerous aspect of Fanconi Signs and symptoms
anaemia but there are a number of other
abnormalities often present (see signs and
symptoms). There is a very wide spectrum of
disease presentation in Fanconi anaemia,
related to the 5 different versions of
abnormal genes. Within families disease
Causes may present in childhood, adolescence or
as adults. Most children with Fanconi
Fanconi anaemia is an autosomal anaemia remain well until they are
recessive inherited disease. Autosomal between 3 and 12 years old. They then
means the abnormal gene is carried on begin to suffer from tiredness (due to
the non-sex chromosomes and so it anaemia), infections (due to a low white
affects boys and girls equally. Recessive count) and bruising or bleeding (due to a
means that it only causes problems if the low platelet count). In some cases there
child inherits the same defective gene may be physical abnormalities typical of
from both parents. A child with one normal Fanconi anaemia which may be noted at
gene and one affected gene will be birth.
clinically unaffected by the disease.
It has been estimated that the
frequency of carriers is between 1 in 100 short stature
and 1 in 600 in the general population. In a missing thumbs and/or arm bones
family in which both parents are carriers of other skeletal anomalies
the Fanconi gene, on average 1 in 4 of kidney problems
their children will have completely normal abnormal skin coloration
genes, and cannot develop the disease or small head or eyes
pass it on, 1 in 4 will have Fanconi learning disabilities
anaemia, and 2 in 4 will have one normal low birth weight
and one affected gene and will be healthy
small reproductive organs in males
but will be carriers. Fanconi anaemia is
more likely to occur after first cousin
The severity of the condition and
of symptoms may worsen over time.
There are at least five different
Fanconi anaemia patients have a
versions of the abnormal Fanconi anaemia
significantly greater risk of developing Bone Marrow or Stem Cell
leukaemia and other forms of cancer.
They are at particular risk of If a well-matched donor is
cancers in areas where body cells available it may be possible to cure the
normally replace themselves at a high rate aplastic anaemia by bone marrow or stem
such as the mouth, the lining of the transplant. If the donor is a sibling i.e.
digestive system, the urinary system and brother or sister, it is very important to
the reproductive organs. This is probably confirm, using the chromosome breakage
because the normal Fanconi gene plays a test, that the donor does not have
very important part in controlling cell undiagnosed Fanconi anaemia. It may be
growth and division. possible to use cord blood stem cells from
a newborn sibling for a transplant.
For more information on
In some cases the diagnosis of transplants see the Leukaemia Research
Fanconi anaemia may be suspected at Fund booklet Bone Marrow and Stem Cell
birth, if the typical physical abnormalities Transplantation.
are present. This is particularly true if the
parents are already known to carry Androgens
Fanconi anaemia genes.
These are drugs that are artificial
If a patient is thought to have versions of male hormones. Between half
Fanconi anaemia then a test called the and three quarters of Fanconi anaemia
chromosome breakage test will confirm patients will respond to these drugs. They
the diagnosis. This test is carried out on tend to improve the red cell count more
lymphocytes from a blood sample. The than the white cell and platelet counts.
chromosomes in patients with Fanconi Androgens may prolong life expectancy
anaemia are more easily damaged by but they are not a cure and most patients
chemicals than normal. This is very will eventually cease to respond to
important to establish because a number androgens.
of other diseases can resemble Fanconi
anaemia. The chromosome breakage test
should also be done on the brothers and Androgens have severe side
sisters of any Fanconi patient because, effects, which may include liver damage
even if affected, they may have no and masculinizing effects in female
symptoms. patients. It may be possible to reduce
these side effects by reducing the drug
The disease can now be dosage. For patients treated with
diagnosed before birth if the parents know androgens very close co-operation with
they are at risk. This requires tests called doctors and other medical staff is
chorionic villus sampling (CVS) or particularly important. Growth Factors
amniocentesis. These are difficult tests,
which do carry a slight risk to the unborn Growth factors are natural
child so they are only done where it is substances, which control the production
known that there is a definite risk of of blood cells in the bone marrow. Early
Fanconi anaemia. results of clinical trials are positive and
growth factors offer a new form of
treatment to temporarily improve the blood
Treatment counts. However they do not cure the
This section concerns only
treatment for the aplastic anaemia
component of Fanconi anaemia. If other
problems are present these will require See above
other specific treatment.
Fanconi Anemia Research Fund Inc.
1902 Jefferson, Suite #2
Eugene, OR 97405