Congenital aplastic anemia
Congenital Aplastic Anemia Congenital aplastic anemia is a rare blood disorder characterized by the failure of the bone marrow to produce sufficient blood cells. This condition is present at birth and can lead to a variety of health complications due to the lack of red blood cells, white blood cells, and platelets.
Overview[edit | edit source]
Congenital aplastic anemia is a type of aplastic anemia, which is a broader category of bone marrow failure syndromes. Unlike acquired aplastic anemia, congenital aplastic anemia is inherited and often associated with genetic mutations.
Causes[edit | edit source]
The primary cause of congenital aplastic anemia is genetic mutations. These mutations can affect various genes responsible for the normal functioning of bone marrow cells. Some of the known genetic conditions associated with congenital aplastic anemia include:
Symptoms[edit | edit source]
The symptoms of congenital aplastic anemia are related to the deficiency of blood cells:
- Anemia: Fatigue, weakness, and pallor due to low red blood cell count.
- Leukopenia: Increased susceptibility to infections due to low white blood cell count.
- Thrombocytopenia: Easy bruising and bleeding due to low platelet count.
Diagnosis[edit | edit source]
Diagnosis of congenital aplastic anemia involves a combination of clinical evaluation, blood tests, and genetic testing. A bone marrow biopsy may be performed to assess the cellularity of the bone marrow.
Treatment[edit | edit source]
Treatment options for congenital aplastic anemia may include:
- Hematopoietic stem cell transplantation (HSCT): This is the only curative treatment and involves replacing the defective bone marrow with healthy stem cells from a donor.
- Supportive care: Blood transfusions and medications to stimulate blood cell production.
- Gene therapy: An emerging treatment option that aims to correct the underlying genetic defect.
Prognosis[edit | edit source]
The prognosis for individuals with congenital aplastic anemia varies depending on the specific genetic condition and the availability of a suitable stem cell donor. Early diagnosis and treatment can improve outcomes significantly.
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
Congenital aplastic anemia is a rare disease.
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Contributors: Prab R. Tumpati, MD
