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Fanconi Anemia

- Dx? Bone marrow shows hypoplasia, Cytogenetic studies for chr breaks
- Tx? Corticosteroids, androgens, bone marrow transplant.

User Jephte
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Final answer:

Fanconi Anemia is an inherited disease characterized by bone marrow failure, diagnosed via chromosomal breakage studies, and treated with medications or a bone marrow transplant.

Step-by-step explanation:

Fanconi Anemia (FA) is a rare, inherited blood disorder leading to bone marrow failure. Diagnostically, FA is confirmed by the presence of bone marrow hypoplasia and chromosomal breakage when cytogenetic studies are conducted. Treatment options include corticosteroids, androgens, and ultimately, a bone marrow transplant, which is a potential cure. A bone marrow transplant replaces damaged bone marrow with healthy marrow, ideally from a compatible donor. This procedure can lead to a significant improvement in blood cell counts and is crucial for individuals suffering from FA or severe blood diseases like severe combined immunodeficiency (SCID) as evidenced by the historical case of David Vetter.

User Matthew Conradie
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