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
Children's Hospital Boston is the primary pediatric teaching hospital of Harvard Medical School
