Serum alpha fetoprotein levels in Fanconi anaemia

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Constitutive elevation of serum alpha-fetoprotein in Fanconi anemia.

The diagnosis of Fanconi anemia (FA) is based on the association of congenital malformations, bone marrow failure syndrome, and hypersensitivity to chromosomal breaks induced by cross-linking agents. In the absence of typical features, the diagnosis is not easy to establish because there is no simple and cost-effective test; thus, investigators must rely on specialized analyses of chromosomal b...

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Serum alpha-fetoprotein levels in acute viral hepatitis.

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Maternal Serum Alpha-Fetoprotein Screening

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Fanconi anaemia

Growth retardation (70% of cases). Skin abnormalities: hyperpigmentation and/or café au lait spots in 80%. Squeletal malformations (60%), particularly radius axis defects (absent or hypoplastic thumb or radius...). No immune deficiency (in contrast with most other chromosome instability syndromes). Progressive bone marrow failure; mean age of onset of anemia: 8 yrs; diagnosis made before onset ...

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ژورنال

عنوان ژورنال: British Journal of Haematology

سال: 2018

ISSN: 0007-1048

DOI: 10.1111/bjh.15517