A to Z of syndromes

A-Z of syndromes: Fanconi anaemia

Part six of our series about disorders and diseases with common symptoms that constitute syndromes.
Blood cells

Fanconi anaemia is a rare inherited genetic condition, which can lead to aplastic anaemia and bone marrow failure. People with the condition have a predisposition to some cancers. The condition is named after Swiss paediatrician Guido Fanconi.

Most commonly, this condition occurs as a result of an autosomal recessive transmission and, more rarely, it is X-linked. When the condition is inherited through the autosomal route, the abnormal chromosome will be carried by both parents. Babies conceived by two people who both carry the chromosome have a 25% chance of being affected.

The condition is more prevalent in the Ashkenazi Jewish population, who usually originate from eastern Europe, and in white South Africans. Fanconi anaemia occurs in 1 in 160,000 people worldwide (Genetics Home Reference).


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