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Case study Anemia Diamond Blackfan

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Case report
Anemia Diamond Blackfan
Presentator : Cheong Kai Liang ( 070100233 )
: Baran Palanimuthu ( 070100287 )
Date : 28th June 2011
Supervisor : Prof. Dr. Hj. Bidasari Lubis,SpA(K)
1.1 Definition
Diamond Blackfan Anemia (DBA) also known as congenital pure red cell aplasia describes a
condition in which Red Blood Cell (RBC) precursors in bone marrow are nearly absent, while
megakaryocytes and White Blood Cell (WBC) precursors are usually present at normal levels.
This rare condition usually becomes symptomatic in early infancy, often with pallor in the
neonatal period, but occasionally may first be noted later in childhood. Over 90% of cases are
recognized in the 1st year of life, and the average age of diagnosis is 3 months old. The most
characteristic hematologic features are macrocytic anemia, reticulocytopenia, and a deficiency or
absence of red blood cell (RBC) precursors in an otherwise normally cellular bone marrow
1.2 Epidemiology
1.2.1 Frequency
Since 1936, when this disorder was originally reported, hundreds of cases of Diamond Blackfan
Anemia (Congenital Pure Red Cell Aplasia) have been reported in the United States. At the
moment it is still not known how’s the prevalence in Indonesia.
1.2.2 Mortality/Morbidity
The mortality rate for congenital pure red cell aplasia is expected to be slightly greater than that
for the acute form of pure red cell aplasia. Most individuals with congenital pure red cell aplasia
survive to early adulthood. Patients with the congenital form of pure red cell aplasia can also
have physical abnormalities. Profound transfusion-dependent anemia is the most common
morbidity. However, the treatment of anemia in persons with pure red cell aplasia can contribute
to significant morbidity, as follows:
i) Transfusion therapy can lead to hemosiderosis, and the consequences of iron overload are
growth retardation, delay in sexual maturity, cardiac arrhythmias, and cardiac failure.
Transfusions can also transmit infections.

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ii) Corticosteroid therapy can lead to growth retardation, osteopenia, diabetes, and other
complications.
1.2.3 Race and Sex
No racial and sex predilection is observed.
1.3 Etiology
The majority of cases are sporadic, although dominant or recessive patterns of inheritance
are indicated by familial occurrence in about 15% of patients. The primary defects are in the
erythroid progenitor cells, where there is an intrinsic defect that results in increased apoptosis
(programmed cell death). High levels of erythropoietin (EPO) are present in serum and urine,
although a search for mutations in the EPO receptor gene has been negative. In about 25% of
sporadic and inherited cases there are mutations in a gene (DBA1) for a ribosomal protein S19,
mapped to chromosome 19q13. A second gene for Diamond-Blackfan anemia has been linked to
chromosome 8p, and most likely other genetic abnormalities will be identified. A unifying
etiology for this disorder and the significance of these genetic alterations is being defined
1.4 Clinical Manifestations
Anemia is the primary problem. The degree of anemia can range from subclinical to
severe. Patients with severe anemias have symptoms and signs of uncompensated anemia and
present with weakness, tachycardia, and dyspnea.
Some, but not all, cases of anemia diamond blackfan are associated with severe anemia.
In addition to anemia, approximately one third of patients develop physical abnormalities, most
often involving the head, upper limbs, thumbs, urogenital system, or cardiovascular system.
Growth retardation and unusual thumb formation can occur. However, these physical deformities
are less severe than in Fanconi syndrome. Anemia is not often observed during the early neonatal
period, but pallor, weakness, and dyspnea attributable to the anemia develop during the first year
of life.

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Case report Anemia Diamond Blackfan Presentator : Cheong Kai Liang ( 070100233 ) : Baran Palanimuthu ( 070100287 ) Date : 28th June 2011 Supervisor : Prof. Dr. Hj. Bidasari Lubis,SpA(K) 1.1 Definition Diamond Blackfan Anemia (DBA) also known as congenital pure red cell aplasia describes a condition in which Red Blood Cell (RBC) precursors in bone marrow are nearly absent, while megakaryocytes and White Blood Cell (WBC) precursors are usually present at normal levels. This rare condition usually becomes symptomatic in early infancy, often with pallor in the neonatal period, but occasionally may first be noted later in childhood. Over 90% of cases are recognized in the 1st year of life, and the average age of diagnosis is 3 months old. The most characteristic hematologic features are macrocytic anemia, reticulocytopenia, and a deficiency or absence of red blood cell (RBC) precursors in an otherwise normally cellular bone marrow 1.2 Epidemiology 1.2.1 Frequency Since 1936, when this disorder was originally reported, hundreds of cases of Diamond Blackfan Anemia (Congenital Pure Red Cell Aplasia) have been reported in the United States. At the moment it is still not known how’s the prevalence in Indonesia. 1.2.2 Mortality/Morbidity The mortality rate for congenital pure red cell aplasia is expected to be slightly greater than that for the acute form of pure red cell aplasia. Most individuals with congenital pure red cell aplasia survive to early adulthood. Pat ...
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