health

1. Definition .
   
2. What Is Fanconi Anemia?
3. What Is the Connection Between Fanconi Anemia and Blood Production?
4. How Is Fanconi Anemia Inherited?
5. Who Inherits Fanconi Anemia?
6. What Causes Fanconi Anemia?
7. What Signs and Symptoms Are Typical in Fanconi Anemia?
8. How Is Fanconi Anemia Diagnosed and Treated?
9. How Does Fanconi Anemia Cause Cancer?
10. What Can People with Fanconi Anemia Expect?

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Fanconi anemia is a rare genetic syndrome, involving failure of the bone
marrow to produce blood cells.

Fanconi anemia (FA) is a rare genetic syndrome, involving failure of the
bone marrow to produce blood cells. FA is a premalignant medical disorder,
which means that individuals with FA often eventually develop some form
of cancer. However, the most common cause of death among people with
FA is bone marrow failure leading to a life-threatening anemia. FA patients
often have various characteristic birth defects and other medical problems in
addition to the anemia and cancer.

The cells that make up blood include red blood cells that carry oxygen
to body tissues, white blood cells that function as part of the immune
system to fight off infections, and platelets, which are necessary for
blood clotting and wound closure. Each blood component is critical to
maintaining life. Bone marrow has an essential role in the production
of mature blood cells. FA involves a type of anemia known as aplastic
anemia, in which all three types of blood cells are deficient due to bone
marrow failure. Having such critical body components deficient leads to
many different medical problems that can be life threatening.

FA is an autosomal recessive genetic disorder. Autosomal recessive disorders
are diseases in which both parents must be carriers of the gene in
order for their child to inherit the condition. If both parents are carriers,
there is a 25 percent risk for the child to be affected by the disease. There
are at least 13 known genes that can be mutated (changed) and cause
FA. Only one of these 13 is needed to cause the disease. The proteins
expressed by these genes may cause DNA damage that affect bodily
processes such as blood production by the bone marrow and the start of
cancer. However, the exact mechanism by which these gene mutations
cause birth defects, bone marrow failure, and cancer was not known as
of 2009.

In the United States, one in 300 individuals carry the mutated genes that
can cause FA. About one in 360,000 people in the United States are born
with the disease. In the United States, the Ashkenazi Jewish population
has a higher rate of one carrier per 90 people and one case per 30,000
people. In other countries, FA occurs at similar rates. Certain ethnic
groups have higher rates of carrying the FA genes. These groups include
sub-Saharan Black people and Spanish gypsies.

FA is a genetic disorder caused by mutations in one of 13 different genes,
but how this mutation happens was not known as of 2009. The cells
affected by these mutated genes may be more susceptible to environmental
factors that cause cancers or the cells may not have the self-protective
mechanism that healthy cells have.

Babies born with FA typically have low birth weight. Three-fourths of
all people with FA have visible birth defects, too. Altered skin pigment
known as café au lait spots for their light brown color is characteristic.
Many children with FA are short and have small heads. They may also
have abnormal thumbs, eyes, and ears, along with impaired sight and
hearing. Multiple internal organs may also be defective, such as the kidneys,
gastrointestinal tract (often esophagus, small intestine, or anus),
heart, or lungs.
As children with FA continue to grow, bruises and small blood hemorrhages
under the skin may be the first sign of blood problems associated
with aplastic anemia and suggest platelets deficiency. These individuals
have pale skin and tire easily, which is caused by red blood cell deficiency
and decreased oxygen delivery to tissues. Frequent infections are caused
by white blood cell deficiency.

The combination of obvious birth defects and blood disorders indicate
FA. In one-fourth of FA patients, however, a diagnosis of FA only occurs
after leukemia or some other form of cancer is discovered. DNA tests can
detect mutations in the known FA genes.
FA patients are often treated by a team of physicians, each of whom
may address a different aspect of the disease. Treating the aplastic anemia
may call for a bone marrow transplant. If appropriate bone marrow is not
available, blood transfusions may be performed to replenish blood cells
needed by the body. Specific drugs that enhance blood cell production
may also be prescribed. These drugs cannot correct the problem, but they
may help reduce symptoms. For example, some drugs can help reduce
bleeding. Blood counts are performed at least every three months, and
bone marrow examination is necessary at least once per year. Sometimes
surgery can help correct certain birth defects.

Having FA makes a person likely to develop many kinds of cancer,
even after bone marrow transplantation. People with FA often develop
leukemia, a cancer originating in blood cells. The type of leukemia most
often associated with FA is called acute myelogenous leukemia (AML),
which is characterized by a rapid and unhealthy increase in immature
white blood cells that cannot be used by the body to fight infection. The
accumulating immature cells replace the normal bone marrow as well as
the normal blood cells and are cancerous. This condition is life threatening.
AML progresses rapidly and is typically fatal within weeks or months
if left untreated. Other types of cancer associated with FA are characterized
by tumors of the head and neck or tumors of the esophagus, reproductive
tract, brain, liver, kidney, and lung.

FA is a fatal disorder if left untreated and is sometimes fatal at an early
age even with treatment. If a patient undergoes a bone marrow transplant
along with other supportive treatments and has any severe birth defects
corrected in a manner that sustains the person’s life, then the prognosis is
improved. With the best medical care and circumstances, a person with
FA may live about 30 years. Making a diagnosis of FA early in the course
of the disease improves the prognosis, as well as early cancer detection.
However, the quality of life may be severely affected by frequent medical
tests and procedures, complications such as birth defects or cancer, and
various possible physical limitations.