What Are Common Causes of Congenital Aplastic Anemia?

Discussion Aplastic anemia are disorders where there is inadequate production of erythrocytes, granulocytes and platelets caused by decreased bone marrow production leading to a peripheral blood pancytopenia. Most often it is acquired because of exposures to infections (especially viruses such as Epstein-Barr virus, rubella, herpes, etc.), drugs (e.g. chloramphenicol, chemotherapeutic agents, etc.), toxins or radiation. Learning Point The most common congenital bone marrow failure syndromes causing pancytopenia are (in this order) Fanconi anemia, Diamond-Blackfan anemia, and Shwachman-Diamond anemia. Most have a variety of congenital abnormalities. They usually have an increased risk of malignancies. Treatment is usually monitoring, supportive (including colony stimulating factors, transfusions, etc.) and bone marrow and other transplantations. Fanconi anemia Cause is chromosome breakage and defective repair Autosome recessive, few X-linked recessive Pancytopenia is seen first decade of life Congenital abnormalities – cafe-au-lait spots, short stature, abnormal radii and thumbs, microcephaly, renal abnormalities Increased risk of malignancies is 50x general population – leukemia and squamous cell carcinoma Diamond-Blackfan anemia Caused by ribosomal protein mutations Genetics is heterogeneous This is a mainly a congenital red cell aplasia, but often has neutropenia and thrombocytenia. Diagnosed usually in first year of life. Congenital abnormalities – sh...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news