How to Diagnose Fanconi Anemia
Know your family's genetic history., Get tested for the gene., Test a fetus for the gene., Look for the symptoms of Fanconi anemia.
Step-by-Step Guide
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Step 1: Know your family's genetic history.
Fanconi anemia is a genetic disease, so if someone in your family has a history of anemia, you may have the gene.
Fanconi anemia is carried by a recessive gene, meaning both parents must have the gene and pass it on to their child for a person to get the condition.
Because it's a recessive gene, both parents may be carriers and not have the disease. -
Step 2: Get tested for the gene.
If you are not sure whether you carry the gene for Fanconi anemia, there are several tests you can have done with a geneticist.
If neither parent carries the gene, then their children cannot get Fanconi anemia.
Even if both parents have the gene, there is still only a one in four chance the child will get Fanconi anemia.The most common test is a genetic mutation test.
A geneticist will take a sample of skin, and look for mutations (abnormal changes in your genes) that are tied to Fanconi anemia.
A chromosome breakage test involves having blood drawn from the arm, and treating the cells with special chemicals.
Those cells are then observed to see if they break apart.
In Fanconi anemia chromosomes will break and rearrange more easily than normal people.
This test is the only sure way to determine if someone has the gene for FA.
It is a sophisticated test and can only be done at a few centers., There are two tests for a developing fetus: chorionic villus sampling (CVS) and amniocentesis.
Both tests are done in a doctor's office or hospital.CVS is done 10 to 12 weeks after a pregnant woman's last period.
The doctor inserts a thin tube through the vagina and cervix to the placenta.
She will remove a tissue sample from the placenta using gentle suction.
A lab then tests the sample for genetic defects.
Amniocentesis is done 15 to 18 weeks after a pregnant woman's last period.
The doctor will take small amount of fluid from the sac around the fetus with a needle.
A technician will then test chromosomes from the sample to see whether they have the faulty genes. , After the child is born, you will want check for certain physical defects that indicate Fanconi anemia.
Some of these you will be able to see yourself, while others will require a doctor to check.FA can cause missing, oddly shaped, or three or more thumbs.
Arm bones, hips, legs, hands, and toes may not form fully or normally.
People who have FA may have scoliosis, or a curved spine.
The eyes, eyelids, and ears may not have a normal shape.
Children who have FA also might be born deaf.
About 75% of patients with Fanconi anemia have at least one birth defect.
A child who has FA might be missing a kidney or have kidneys that aren't shaped normally.
FA can also cause congenital heart defects.
The most common is a ventricular septal defect (VSD), a hole or defect in the lower part of the wall that separates the heart’s left and right chambers. -
Step 3: Test a fetus for the gene.
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Step 4: Look for the symptoms of Fanconi anemia.
Detailed Guide
Fanconi anemia is a genetic disease, so if someone in your family has a history of anemia, you may have the gene.
Fanconi anemia is carried by a recessive gene, meaning both parents must have the gene and pass it on to their child for a person to get the condition.
Because it's a recessive gene, both parents may be carriers and not have the disease.
If you are not sure whether you carry the gene for Fanconi anemia, there are several tests you can have done with a geneticist.
If neither parent carries the gene, then their children cannot get Fanconi anemia.
Even if both parents have the gene, there is still only a one in four chance the child will get Fanconi anemia.The most common test is a genetic mutation test.
A geneticist will take a sample of skin, and look for mutations (abnormal changes in your genes) that are tied to Fanconi anemia.
A chromosome breakage test involves having blood drawn from the arm, and treating the cells with special chemicals.
Those cells are then observed to see if they break apart.
In Fanconi anemia chromosomes will break and rearrange more easily than normal people.
This test is the only sure way to determine if someone has the gene for FA.
It is a sophisticated test and can only be done at a few centers., There are two tests for a developing fetus: chorionic villus sampling (CVS) and amniocentesis.
Both tests are done in a doctor's office or hospital.CVS is done 10 to 12 weeks after a pregnant woman's last period.
The doctor inserts a thin tube through the vagina and cervix to the placenta.
She will remove a tissue sample from the placenta using gentle suction.
A lab then tests the sample for genetic defects.
Amniocentesis is done 15 to 18 weeks after a pregnant woman's last period.
The doctor will take small amount of fluid from the sac around the fetus with a needle.
A technician will then test chromosomes from the sample to see whether they have the faulty genes. , After the child is born, you will want check for certain physical defects that indicate Fanconi anemia.
Some of these you will be able to see yourself, while others will require a doctor to check.FA can cause missing, oddly shaped, or three or more thumbs.
Arm bones, hips, legs, hands, and toes may not form fully or normally.
People who have FA may have scoliosis, or a curved spine.
The eyes, eyelids, and ears may not have a normal shape.
Children who have FA also might be born deaf.
About 75% of patients with Fanconi anemia have at least one birth defect.
A child who has FA might be missing a kidney or have kidneys that aren't shaped normally.
FA can also cause congenital heart defects.
The most common is a ventricular septal defect (VSD), a hole or defect in the lower part of the wall that separates the heart’s left and right chambers.
About the Author
Barbara Hill
Enthusiastic about teaching organization techniques through clear, step-by-step guides.
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