Fanconi anaemia

Descripción

Fanconi anaemia is a condition that is characterised by bone marrow failure, physical differences, organ problems, and an increased risk of certain cancers.

Approximately 90 percent of people with Fanconi anaemia have impaired bone marrow function. Bone marrow primarily produces new blood cells. These include red blood cells, which carry oxygen to the body's tissues; white blood cells, which fight infections; and platelets, which are necessary for normal blood clotting. In people with Fanconi anaemia, impaired bone marrow function leads to a decrease in the production of all blood cells (aplastic anaemia). Affected individuals experience extreme tiredness (fatigue) due to low numbers of red blood cells (anaemia), frequent infections due to low numbers of white blood cells (neutropenia), and clotting problems due to low numbers of platelets (thrombocytopenia). People with Fanconi anaemia may also develop myelodysplastic syndrome, a condition in which immature blood cells fail to develop normally.

People with Fanconi anaemia often have growth problems before or after birth that often result in short stature. Affected individuals can also have irregular skin coloring such as unusually light-colored skin (hypopigmentation) or café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. People with Fanconi anaemia can have skeletal problems that often include malformed thumbs or forearms or an unusually small head size (microcephaly).

Problems in hormone-producing (endocrine) tissues are common in people with Fanconi anaemia, including abnormally low levels of thyroid hormones (hypothyroidism), and high blood glucose levels (hyperglycemia). Individuals with Fanconi anaemia can also have eye abnormalities such as small or abnormally shaped eyes or malformed or absent kidneys and other defects of the urinary tract.  Less frequent problems include gastrointestinal abnormalities, heart defects, brain abnormalities, and hearing loss. People with Fanconi anaemia may have abnormal genitalia or malformations of the reproductive system, which can result in difficulty having biological children (infertility).

Individuals with Fanconi anaemia have an increased risk of developing a cancer of blood-forming cells called acute myeloid leukemia (AML). They are also at risk of developing tumours of the liver, gastrointestinal system, genital tract, or head and neck (known as head and neck squamous cell carcinoma). The likelihood of a person with Fanconi anaemia developing one of these cancers is between 10 and 30 percent.

Patrones de herencia

The source lists the following possible inheritance patterns: Autosomal recessive; X-linked; X-linked recessive; Autosomal dominant. More than one pattern can apply in different cases.

Related genes

• BRCA1

• RAD51

• BRCA2

• FANCA

• FANCC

• FANCG

• ERCC4

• FANCD2

• FANCE

• FANCB

• FANCF

• RAD51C

• XRCC2

• MAD2L2

• UBE2T

• FANCL

• RFWD3

• FANCI

• FANCM

• PALB2

• FAAP100

• BRIP1

• SLX4

Otros nombres

FA

Fanconi hypoplastic anaemia

Fanconi pancytopenia

Fanconi panmyelopathy