What are the symptoms?
Symptoms of DBA largely include the side effects of anemia: pale skin ( paleness, easy to check by looking at the palms
of the hand, inside the eyelid, and in the mouth), decreased energy/sleepiness, difficulty with breathing, tiring during
feeding in infants, tachycardia ( irregular heartbeat) and heart murmurs due to the increase in work the heart needs to do
to keep oxygen moving around the body . This can lead to irritability, tiredness, and fainting. Since DBA is diagnosed at a
very early age, it is difficult for children to tell their parents how they are feeling. Parents usually notice that 'something is
wrong' well before diagnosis. Physical characteristics such as short stature, head, face (including clef lip and clef palate),
neck, and thumb malformations are found in 25%-30% of patients.

Here are some examples of hand malformations you may find in patients with DBA:
(Pictures provided by Heather Monica)



















This information obtained from Children's Hospital Boston at
www.childrenshospital.org and The GAPS Index
"That which
does not
kill you
makes you
stronger."
-Neitzsche-
Right hand with
Pollicization (top)
Bottom of right
hand with
Pollicization
Top Left
hand with
Hypoplastic
thumb
Bottom left
hand with
Hypoplastic
thumb
Crooked thumb
Provided by James M.
From the Diamond Blackfan Anemia Registry:

Congenital Anomalies (Birth Defects)
47% of the patients in the DBAR have physical abnormalities (not including short stature). Of these,
• 50% of the abnormalities are of the face and head (including cleft lip and palate)
• 38% are of the upper arm and hand
• 39% are of the kidney, and
• 30% of the heart
21% of patients have more than one abnormality.