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disorder in which the bone marrow does not produce red blood cells.
Normally, it is diagnosed within the first two years of life. Amy is a bit
of a different case, as she had no real symptoms until 8 years of age,
in 2003. I have added an article from About.com, describing a little
more about this condition.
http://rarediseases.about.com/cs/blackfandiamond/a/072002.htm
By Mary Kugler,
Your Guide to Rare / Orphan Diseases.
Little or no red blood cells produced
What is it?
In Blackfan Diamond (or Diamond Blackfan) anemia the body's bone marrow
produces little or no red blood cells. A person is born with it. It affects
approximately 600 - 700 people worldwide. Its cause is unknown, although a
genetic error on Chromosome 19 is associated with about 25% of cases. In
about 10-20% of cases, there is a family history of the disorder.
What are the symptoms?
Blackfan Diamond anemia can be difficult to identify. In about one-third of
children born with the disorder there are physical defects such as hand
deformities or heart defects, but a clear set of signs hasn't been identified. The
symptoms may also vary greatly, from very mild to severe and life-threatening.
Red blood cells carry oxygen throughout the body, so a child with Blackfan
Diamond may have symptoms related to not enough blood oxygen (anemia):
* pallor (paleness)
* irregular heartbeat, due to the heart trying to keep oxygen moving throughout
the body
* fatigue, irritability, and fainting.
How is it diagnosed?
Blackfan Diamond anemia is usually diagnosed within the first two years of life,
sometimes even at birth, based on symptoms. For example, a baby might be
suspected of having anemia if he or she is always pale and gets short of breath
when drinking a bottle or nursing. Parents often suspect there is "something
wrong" with their child. The diagnosis of Blackfan Diamond anemia in particular
might not be recognized right away, though, because the disorder is rare and not
all physicians are familiar with it.
A blood test for the baby would show a very low number of red blood cells, as
well as low hemoglobin and high adenosine deaminase activity (ADA). A sample
(biopsy) of the baby's bone marrow would show that few new red blood cells
were being created.
How is it treated?
The first line of treatment is to give the child steroid medication, usually
prednisone. About 70% of children with Blackfan Diamond anemia will respond to
this treatment, in which the medication stimulates the production of more red
blood cells. However, this means that the child will have to take steroid
medication for the rest of his or her life, which has serious side effects such as
diabetes, glaucoma, bone weakening, and high blood pressure. Also, the
medication may suddenly stop working for the person at any time.
If a person doesn't respond to steroid medication, or needs too high a dose to
keep his/her red blood cell count up, the treatment becomes blood transfusions.
Regular blood transfusions will provide red blood cells but also leads to too much
iron in the body. Normally, the body uses the iron when making new red blood
cells, but since the person with Blackfan Diamond anemia isn't making many cells
the iron builds up. The person then needs to take medication that takes the
excess iron out of the body.
The only cure available for Blackfan Diamond anemia is bone marrow
transplantation, which replaces the person's defective bone marrow with healthy
marrow. However, transplantation is a difficult procedure to go through and it
doesn't always work. It is usually reserved for people whom steroid medications
and blood transfusions don't help.
There are support groups available in the U.S. and U.K. for families affected by
Blackfan Diamond anemia.
Information for this article was taken from:
- Diamond Blackfan Anemia Support Group
- National Organization for Rare Disorders. Blackfan Diamond Anemia.