Information
DBA
Quicklinks:
What is Diamond Blackfan Anemia? How is it diagnosed?
This information is compiled from various medical sources with special attention given to the DBA Foundation and the
Diamond Blackfan Anemia Registry of North America
Where does the name come from?
Diamond Blackfan Anemia's name originated from the founder of the Hematology/Oncology branch at Children's
Hospital in Boston Louis K. Diamond M.D. and Chief of the Pediatric Department Kenneth D. Blackfan.
DBA in general:
Diamond Blackfan Anemia (DBA) is a blood condition, present at birth, which is characterized by a failure of
the bone marrow to produce red blood cells, other blood cells such as white cells and platelets are usually not
affected. By itself, the term "anemia" means low red cell counts. Unlike other types of anemia, DBA is a bone
marrow failure syndrome. It has also been linked to a genetic mutation in some individuals. Severe anemia is
frequently found at birth and the majority of individuals are diagnosed before their first birthday.
What causes it?
DBA occurs when the bone marrow fails to make adequate numbers of red blood cells. Scientists are currently
studying the genes involved in DBA to see why it occurs. RPS-19 has been linked in 25% of DBA cases but not
having this gene does not mean you do not have DBA. Forty percent of the patients with DBA have a mutation
in a gene or genes located in a wide region in the short arm of chromosome 8 (8p22.3-23) but a candidate
gene has not been identified yet. There has been no success in pinpointing the genetic defect in the DBA
patients who have neither RPS-19 mutation nor chromosome 8p22.3-23 mutation.
According to the DBA Registry of America:
DBA can be either congenital (such as DBA) or acquired (such as TEC, infection associated, malignancy associated, from
drugs/toxins, etc.).
Diagnosis?
In addition to a complete history and physical examination, other diagnostic tests are used to aid in the
diagnosis of DBA. Initially, blood work is performed to evaluate the degree of anemia and examine other body
systems. One particular blood test called the red cell ADA (adenosine deaminase) is usually present at
elevated levels in patients with DBA. In addition to blood tests, samples of bone marrow (Bone Marrow
Aspirate and Biopsy) are taken to examine all of the blood cell lines (red cells, white cells, and platelets),
genetic make up of the bone marrow, and the physical architecture of the bone marrow. Bone marrow biopsies
can confirm that the erythroid ( red cell ) precursors are depleted, which can point to viral infection
( Parvovirus B19 ) or DBA.
DBA sufferers usually have a very high MCV (Mean Cell Volume) so tend to have larger red blood cells, and a
higher percentage of fetal hemoglobin (Hb F) than normal, all which can be tested through bloods and bone
marrow biopsies. Doctors may also check the reticulocyte count. High reticulocyte counts point to conditions
where blood is being created normally but is being destroyed. Low counts indicate a lack of red cell production.
In DBA, reticulocyte counts are very low, and can be zero.
According to the Diamond Blackfan Anemia Registry of North America:
The diagnostic criteria for DBA are: age less than 1 year, moderate to severe macrocytic anemia,
reticulocytopenia (low retic count), normal bone marrow cellularity with a paucity of erythroid precursors.
Major criteria that support a DBA diagnosis are: the RPS19 mutation or a positive family history. Minor
supportive criteria are: elevated erythrocyte adenosine deaminase (eADA) activity (normal ADA is 0.20-0.98, in
DBA you see 0.45-5.11), congenital anomalies, elevated fetal hemoglobin, no evidence of another type of bone
marrow failure. [My notes say that you should have all the diagnostic criteria and a couple of the supporting
criteria to have classical DBA.]
A comparison of DBA and TEC (transient erythroblastopenia of childhood): DBA is inherited, TEC is aquired.
50% of DBA patients show some physical anomaly [she's including short stature here], no TEC patients do.
There are also some CBC count differences, but the main ones would be that DBA his increased eADA
while TEC doesn't, DBA has increase mean corpuscle volume (MCV - the size of the red blood cell), and
generally TEC has no increase in fetal hemoglobin except during recovery.
From the DBA Foundation:
To date there are no definite tests to diagnose DBA. However, the uniform diagnostic criteria for all cases
are: (1) normochromic-macrocytic anemia presenting in 90% of cases in the first 12 months of life; (2)
profound reticulocytopenia; (3) normocellular marrow with a selective, marked deficiency of red cell precursors;
(4) increased serum levels of erythropoietin; (5) normal or slightly decreased white cell counts; and (6) normal
or increased platelet counts. Fetal hemoglobin is usually increased.
What is a normal hemoglobin level?
On average, normal hemoglobin levels range from 12 to 18 g/dL (grams per deciliter) of blood for both sexes.
For men, a normal hemoglobin count is between 14 and 18 g/dL; for women, the normal range is between 12
and 16g/dL. For children 12 to 16 g/dl.
Anemia in general...
Anemia occurs when the number of red blood cells (or the hemoglobin in them) falls below these normal ranges
and the body's organs and tissues receive less oxygen than needed to function properly. Although "normal" is
something that varies from person to person, if your numbers are below the ranges, then you may be feeling
worse than you should.
Synonyms
-Anemia, Congenital Pure Red Cell
-Aplasia, Congenital Pure Red Cell
-Chronic Congenital Aregenerative Anemia
-Constitutional Erythroid Hypoplasia
-DBA
-DBS
-Diamond-Blackfan Anemia
-Erythrogenesis Imperfecta
-Estren-Dameshek variant of Fanconi Anemia
-Hypoplastic Congenital Anemia
This information is obtained from Children's Hospital Boston at www.childrenshospital.org, WebMD
at www.webmd.com , www.anemia.com , http://www.icomm.ca/geneinfo/anemdb.htm, Journal of
Pediatric Hematology and The Diamond Blackfan Anemia Registry of North America
Treatment
Treatment options may include, but are not limited to, the following:
-Steroid therapy. This involves taking oral corticosteroids in liquid or pill form. The medicine is usually
taken every day or every other day in divided doses. Corticosteroids are different from the more familiar
androgenic steroids (like testosterone) that are sometimes taken to increase muscle mass. The goal of the
therapy is to increase the hemoglobin, or red blood cells. Side effects of steroids include, but are not
limited to: upset stomach, increased appetite, weight gain, unstable blood sugars, increased blood pressure,
decreased height, and susceptibility to infection. However, in many patients with DBA the effective dose
of corticosteroids is low enough that few or no side effects are observed.
-Red Blood Cell transfusions. This requires the insertion of an IV needle or more permanent access device
such as an Infuse-A-Port, (ie. Mediport, Central Line, etc.) in order to deliver the blood to the patient.
Transfusions take 2-4 hours and are given at hospital. Side effects of
red blood cell transfusions include, but are not limited to: fever, headache, hives, allergic reaction,
infection, and iron overload. Blood transfusions may be repeated every 4-8 weeks, depending on the
patient. Blood transfusions are used when anemia is unusually severe or when the response to
corticosteroid therapy is inadequate.
-Bone Marrow Transplant. At present, this is the only cure for DBA. Bone marrow transplant involves the
replacement of diseased bone marrow with another person's healthy bone marrow.
Additional treatment alternatives are currently being studied. Pharmaceutical research is practically non-
existent, due to the small number of DBA sufferers worldwide. However, pharmaceutical research into
related conditions may lead to better treatment for DBA patients, especially related to transfusions and
chelation therapy.
Information obtained by Children's Hospital Boston at www.childrenshospital.org,
DBA Registry at www.dbar.org and DBA Foundation at www.dbafoundation.org
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.
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.
"That which does not kill you
makes you stronger."
-Neitzsche-
Who gets DBA?
DBA effects boys and girls equally. It has been reported in virtually all
ethnic groups. The estimated incidence is approximately 7 cases for every
million children born in the U.S.A. and Canada.
This information obtained from Children's Hospital Boston at
From the Diamond Blackfan Anemia Registry of North America:
There are 420 patients in the registry, 349 are alive, 36 are deceased, 30 have insufficient data, and 5
have been excluded for incorrect diagnosis. Male: female ratio is 1.07:1. Median age at presentation is 8
weeks (range is birth to 6 years). 93% of the DBAR patients present during the first year. Median age at
diagnosis is 12 weeks (range is birth to 26 years). This doesn't include "non-classical" cases.
Distribution by birth year:
a.. 1949-1967: median 2.0 +/- 1.2 cases/year
b.. 1968-1977: 5.5 +/- 2.2
c.. 1978-1987: 11.0 +/-3.6
d.. 1988-1997: 17.0 +/-3.6
e.. 1998-2004: 8.0 +/-1.1
20-40 new cases per year are expected. [There statistically should be about 600 cases in North America.]