Fanconi's anemia

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Formed elements of blood

Anemia - Fanconi's; FA

This set of physical abnormalities occur in 80% of the cases:

• Skin pigment change -- darkened areas of the skin, cafe-au-lait spots, vitiligo
• Short stature
• Upper limb anomalies -- missing, extra or misshapen thumbs; underdeveloped or absent radius bone in the forearm; anomalies of the hands; abnormalities of the ulna
• Small testicles, genital changes
• Other skeletal anomalies -- congenital hip abnormality, scoliosis, spinal or rib malformations, small head
• Eye/eyelid anomalies
• Kidney malformations
• Ear anomalies/deafness
• Hip, leg, and toe abnormalities
• Gastrointestinal/cardiopulmonary malformations

Other potential symptoms:

• Mental retardation
• Learning disability
• Low birth weight
• Failure to thrive
• An affected sibling

Common tests performed in evaluating Fanconi's anemia include:

• CBC (complete blood count) initially demonstrates low platelets (thrombocytopenia), then low neutrophils (a type of white blood cell), and finally low hemoglobin (anemia), which develops over months to years.
• Bone marrow biopsy.
• Clastogenic stress-induced chromosomal breakage analysis on blood cells of patients and their siblings to diagnose the disease. In this test, drugs are added to a blood sample to check for abnormal damage to chromosomes.
• HLA tissue typing on the patient and their family members to determine if any are matching bone-marrow donors.
• Hand x-ray, and other imaging studies (x-ray, CT scan, MRI) to evaluate any anomalies.
• Hearing test.
• Developmental tests.
• Ultrasound of the kidneys.
• Amniocentesis or chorionic villous sampling has been used for prenatal diagnosis.

Review Date: 07/29/2005
Reviewed By: William Matsui, M.D., Assistant Professor of Oncology, Division of Hematologic Malignancies, The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, MD. Review provided by VeriMed Healthcare Network.