Fanconi anemia
Fanconi Anemia
Fanconi anemia is a rare, inherited blood disorder characterized by bone marrow failure, which leads to decreased production of blood cells. It is also associated with a higher risk of developing cancers, particularly leukemia. The condition affects multiple organs and systems in the body due to its impact on cell growth and repair.
Causes and Risk Factors of Fanconi Anemia
Fanconi anemia is caused by genetic mutations that affect the body's ability to repair damaged DNA. These mutations are inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder. Some key points include:
- Genetic mutations in several genes, including FANCA, FANCC, and FANCG, among others.
- Family history of Fanconi anemia or related genetic disorders.
- Exposure to certain environmental factors, such as radiation, may exacerbate the condition.
Symptoms of Fanconi Anemia
- Anemia, leading to fatigue, weakness, and pallor.
- Frequent infections due to reduced white blood cell counts.
- Easy bruising and bleeding due to low platelet counts.
- Physical abnormalities such as short stature, skin pigmentation changes, or limb malformations.
- Increased risk of developing cancers, especially leukemia and solid tumors.
Diagnosis
Diagnosing Fanconi anemia involves a combination of clinical evaluation, family history assessment, and specialized tests. Key diagnostic procedures include:
- Blood Tests: Complete blood count (CBC) to check for anemia, leukopenia, and thrombocytopenia. Bone marrow tests may also be conducted.
- Cytogenetic Studies: Analysis of chromosomes to identify characteristic abnormalities associated with Fanconi anemia.
- Genetic Testing: DNA testing to identify mutations in specific Fanconi anemia-related genes.