Fanconi Anemia

Description

Fanconi Anemia (FA) is a rare genetic disorder affecting DNA repair, leading to various health complications. This blog delves into the intricacies of FA, including its causes, signs, diagnosis, management, and ways to thrive despite the challenges.

Genes Involved

Genes Involved:

Fanconi Anemia is caused by mutations in genes involved in DNA repair. Over 20 genes have been identified as causing FA, including:

FANCA
FANCB
FANCC
FANCD1 (BRCA2)
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCJ (BRIP1)
FANCL
FANCM
FANCN (PALB2)
FANCO (RAD51C)
FANCP (SLX4)
FANCR (RAD51D)
FANCU (XRCC2)
FANCV
FANCW (RFWD3)
FANCX (RNF168)
FANCZ

Recognizing the Signs and Symptoms

Recognizing the Signs and Symptoms:

Bone marrow failure: This leads to anemia, a decreased number of red blood cells, causing fatigue and pallor; neutropenia, a low white blood cell count, increasing susceptibility to infections; and thrombocytopenia, a low platelet count, causing easy bruising and bleeding.
Physical abnormalities: These include short stature, skeletal malformations (e.g., missing thumbs, radial ray defects), pigmentation abnormalities (e.g., café-au-lait spots), and head and facial abnormalities (e.g., microcephaly, ear defects).
Increased cancer risk: Individuals with FA are at a significantly increased risk of developing various cancers, particularly leukemia, head and neck cancers, and skin cancers.
Other health issues: These may include developmental delays, infertility, and premature aging.

Causes

Causes:

Fanconi Anemia is an inherited genetic disorder. It occurs when both parents carry a mutation in one of the FA genes and pass it on to their child. If a child inherits a mutated gene from each parent, they will develop FA.

The risk of inheritance depends on the specific gene affected and the family history. In some cases, the mutation may arise spontaneously, meaning it was not inherited from either parent.

Inheritance/recurrence risk

Inheritance or Recurrence Risk:

Autosomal recessive inheritance: Most types of FA are inherited in an autosomal recessive pattern. This means that both parents must carry a copy of the mutated gene for their child to develop FA.
Recurrence risk: If one child is diagnosed with FA, there is a 25% chance that each subsequent child will also inherit the condition.

WES Whole Exome Sequencing