Friday, February, 10, 2012

Fanconi's anemia

Table of Contents

Alternative Names

Anemia - Fanconi's


Symptoms

Person's with Fanconi's anemia have lower-than-normal numbers of white blood cells, red blood cells, and platelets (cells that help the blood clot).

Not enough white blood cells can lead to infections. A lack of red blood cells may result in fatigue (anemia).

A lower-than-normal amount of platelets may lead to excess bleeding.

Most people with Fanconi's anemia have some of these symptoms:

  • Abnormal heart, lungs, and digestive tract
  • Bone problems (especially the hips, spine or ribs, can causes a curved spine (scoliosis)
  • Changes in the color of the skin, such as:
    • Darkened areas of the skin called Cafe au lait spots
    • Vitiligo
  • Deafness due to abnormal ears
  • Eye or eyelid problems
  • Kidney(s) that did not form correctly
  • Problems with the arms and hands, such as:
    • Missing, extra or misshapen thumbs
    • Problems of the hands and the bone in the lower arm
    • Small or missing bone in the forearm
  • Short height
  • Small head
  • Small testicles and genital changes

Other possible symptoms:

  • Failure to thrive
  • Learning disability
  • Low birth weight
  • Mental retardation

Signs and tests

Common tests for Fanconi's anemia include:

  • Bone marrow biopsy
  • Complete blood count (CBC)
  • Developmental tests
  • Drugs added to a blood sample to check for damage to chromosomes
  • Hand x-ray and other imaging studies (CT scan, MRI)
  • Hearing test
  • HLA tissue typing (to find matching bone-marrow donors)
  • Ultrasound of the kidneys

Pregnant women may haveamniocentesis or chorionic villous sampling to diagnose the condition in their unborn child.


Review Date: 04/08/2010
Reviewed By: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; and James R. Mason, MD, Oncologist, Director, Blood and Marrow Transplantation Program and Stem Cell Processing Lab, Scripps Clinic, Torrey Pines, California. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)