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Ency. home > Disease > F > Fanconi's anemia

Fanconi's anemia   

Overview | Symptoms | Treatment | Prevention

Alternative names:

Anemia - Fanconi's; FA

Symptoms

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

  • Skin pigment change -- darkened areas of the skin, cafĂ© 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

Signs and Tests

Common tests performed for evaluation of 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. Here, chemotherapy is 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 assessment.
  • Ultrasound of the kidneys.
  • Amniocentesis or chorionic villous sampling has been used for prenatal diagnosis.

Ency. home > Disease > F > Fanconi's anemia

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