Childen's Hospital Boston
International Visitorsdotted lineRequest Appointmentdotted lineDirections
 advanced search
About Us Find a Specialist Locations Careers Press Room Giving To
Clinical Services For Patients & Families For Health Professionals Research
or find by letter:  A-F  G-L  M-R  S-Z

Fanconi Anemia and Bone Marrow Failure Multidisciplinary Clinic

 Fanconi Anemia and Bone Marrow Failure Multidisciplinary Clinic
 Email this page
 Return to
 Blood Disorders
 X
Flower Symptoms
Most young inherited bone marrow failure patients are diagnosed by age 8-10 through a comprehensive medical history, medical exam, blood tests, and a bone marrow examination. They often exhibit one or more of the following physical traits:

  • Short stature
  • Abnormal thumbs or abnormalities in the bones between the elbow and wrist
  • Kidney and bladder malformations
  • Skin discoloration (such as café au lait spots or ash leaf spots)
  • Small head and eyes
  • Low birth weight
  • Gastrointestinal malformations
  • Small reproductive organs in males
  • Heart defects
Hematologic signs of bone marrow failure vary depending on which blood cells are most affected.
Too few red blood cells cause symptoms of anemia which include the following:
  • Fatigue
  • Pale skin
  • Shortness of breath
  • Throbbing headaches
Insufficient white cells make the body vulnerable to infection and may be associated with these symptoms:
  • Fevers
  • Serious infections, including blood poisoning
  • Abscesses in the skin and internal organs
Platelets are responsible for clotting the blood, so diminished platelet counts can lead to the following:
  • Bruising
  • Excessive bleeding with or without trauma
  • Strokes
 X
Contact Us Site Map Privacy Accessibility Give Now en Español