Q What
is Diamond Blackfan anemia?
A Diamond Blackfan anemia (DBA) is a rare blood disorder. In DBA, the
bone marrow (the center of the bone where blood cells are made) does
not make enough red blood cells that carry oxygen throughout the
body. It is usually diagnosed during the first year of life.
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Q What causes DBA?
A Some
people have a family history of the disorder. About
one-quarter of people with DBA have a known genetic
cause. In many people with DBA, doctors do not know the
cause.
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Q Can
anyone have DBA?
A DBA affects both males and females equally. It occurs in every
racial and ethnic group.
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Q Can other members of the same family
have DBA?
A Yes, if someone has DBA there is up to a 50% chance that each of his
or her children will have DBA.
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Q What are the signs and symptoms?
A People with DBA have symptoms common to all other types of anemia,
including pale skin, sleepiness, rapid heartbeat, and heart murmurs.
In some cases, there are no obvious physical signs of DBA. However,
about 30 to 47% of those with DBA have abnormal features involving
the face, head, and hands especially the thumbs). They might also
have heart and kidney defects. Many children are short for their age
and might start puberty later than normal.
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Q How do doctors know if someone has DBA?
A Several tests can be used to tell if a person has DBA. One test a
doctor can perform is called a bone marrow aspirate. This is a test
in which a needle is inserted into a bone and a small amount of bone
marrow fluid is taken out and studied under a microscope. Blood
tests can also be done to see if there is a genetic basis for DBA or
certain chemical abnormalities linked to DBA.
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Q How is DBA treated?
A To treat very low red blood cell counts in people with DBA the two
most common options are corticosteroids and blood transfusions. Bone
marrow/stem cell transplantation might also be considered. Some
people need no specific therapy. A qualified doctor can recommend
the best treatment options.
What is corticosteroid treatment?
Corticosteroids are drugs used to treat many medical conditions. One
type of corticosteroid is called oral prednisone, one of the most
successful treatments for people with DBA.
What are the side effects of corticosteroid treatment?
Major side effects when these drugs are used in high doses for a
long time include weight gain, water and salt retention, high blood
pressure, muscle weakness, osteoporosis (brittle bones occasionally
leading to fractures), wounds that won’t heal, headaches, growth
problems, eye diseases such as cataracts and glaucoma, and the
disruption of hormones that regulate normal body functions. Anyone
using these drugs should be monitored carefully by a doctor.
What is a blood transfusion?
In a blood transfusion, a person receives healthy red blood cells
from another person. With DBA, transfusions can be needed every 3 to
5 weeks.
Do blood transfusions have any complications?
Sometimes people can develop transfusion reactions, with symptoms
such as fever and rash. Medication can be given before a transfusion
to help prevent these symptoms. Red cell transfusions can also cause
a buildup of extra iron in the body, which can harm the heart or
liver, cause diabetes, or slow down normal growth. The amount of
iron in the body of a person with DBA must be checked regularly. If
iron levels are too high, a doctor can recommend drugs to remove
excess iron in body tissues. This process is called chelation
therapy. People getting transfusions should avoid iron supplements.
What is bone marrow/stem cell transplantation?
Bone marrow/stem cell transplantation replaces a person’s bone
marrow/stem cells with those from a healthy, matching donor.
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Q How many new cases of
DBA are diagnosed each year?
A There are about 25 to 35 new cases of DBA each year in the United
States and Canada.
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Q Where did DBA get its name?
A The anemia was named for Dr. Louis K. Diamond and Dr. Kenneth D.
Blackfan, the first doctors who documented cases of the disease in
the 1930s.
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