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Step 1
Know that 80 percent of patients with Fanconi anemia suffer from one or more of the following physical abnormalities: darkened spots of skin, ear problems and deafness. Also, spine and rib deformities, missing or extra thumbs, deformities of legs, toes and hips, unusually short height and kidney, heart and/or lung disorders are also warning signs. Males may have unusually small testicles and other genital abnormalities.
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Step 2
Check for less common symptoms in addition to the primary physical signs of the disorder. These include learning disabilities, low birth weight, cognitive impairment and a failure to thrive as an infant. An affected sibling is also an excellent reason to suspect Fanconi anemia's presence.
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Step 3
Have your doctor perform hearing and developmental tests to look for further evidence of the presence of Fanconi anemia. While these alone are insufficient to actually diagnose the disorder, many of the wholly accurate tests are much more invasive. Some patients prefer to avoid them.
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Step 4
Get X-rays done on any developmental abnormalities. Have a doctor diagnose the cause of any irregular bone growth or physical anomalies.
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Step 5
Diagnose Fanconi anemia through a biopsy of a bone marrow sample. Since Fanconi anemia primarily affects blood cell production, doctors can analyze the makeup of bone marrow to determine if blood cells are being produced correctly.
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Step 6
Screen for Fanconi anemia pre-natally by having fluid samples from the womb analyzed for chromosomal and genetic deficiencies. Usually, these tests can be performed beginning around the 11th week of the pregnancy.
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Step 7
Link to other parents and patients and find support and resources at the Fanconi Anemia Research Fund website. See the Resources section below for a link.
