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  2. Fanconi anaemia

Fanconi anaemia

  • Fanconi's anaemia

Nature

Fanconi anemia is an autosomal recessive genetic disorder, which usually results in severe bone marrow failure and is characterized by diverse congenital abnormalities and a predisposition to malignancy. It is the most common genetic form of aplastic anemia.

Background

At least five different genes can result in FA, if mutated. The genes for two of these subtypes have been isolated, and mutation studies can be used to determine if a patient is in either of these groups.

Incidence

Fanconi anaemia occurs in all racial and ethnic groups. The disease frequency varies among ethnic groups and is particularly high in the Ashkenazi Jewish population. Clinical variability may be explained in part by genetic heterogeneity.

Broader

Aplastic anaemia
Unpresentable

Reference

Web link

Metadata

Database
World problems
Type
(G) Very specific problems
Biological classification
N/A
Subject
  • Medicine » Blood
  • Content quality
    Yet to rate
     Yet to rate
    Language
    English
    1A4N
    J0069
    DOCID
    12000690
    D7NID
    165412
    Last update
    Dec 3, 2024