FANCONI ANEMIA OVERVIEW
Fanconi Anemia (FA) is a rare genetic disorder characterized by bone marrow failure, congenital anomalies, and an increased risk of certain cancers. To help remember the key features of Fanconi Anemia, the mnemonic “CBC FANCONI” can be used:
C – Congenital Anomalies:
Fanconi Anemia is associated with various congenital anomalies, which can affect different parts of the body.
B – Bone Marrow Failure (Pancytopenia):
FA leads to bone marrow failure, which results in reduced production of red blood cells, white blood cells, and platelets.
C – Chromosome Fragility Increased:
One of the hallmark features of FA is increased chromosomal fragility, particularly when exposed to certain agents like diepoxybutane and mitomycin B.
F – Facial Dysmorphism:
Individuals with FA may exhibit facial dysmorphism, which includes features such as microcephaly (small head size), small eyes, epicanthal folds (extra skin fold covering the inner corner of the eye), and abnormalities in the size and shape of the ears.
A – Absent Radius or Hypoplastic Thumb:
FA can lead to skeletal abnormalities, such as the absence of the radius (bone in the forearm) or a hypoplastic (underdeveloped) thumb.
N – Next-Generation Sequencing (NGS):
NGS is an accurate method used for the diagnosis of Fanconi Anemia, allowing for the identification of mutations in the responsible genes.
C – Cafe au Lait Spot:
Cafe au lait spots are light brown pigmented skin spots that may be present in individuals with Fanconi Anemia.
O – Onco SCC of Head and Neck:
Individuals with FA are at an increased risk of developing certain cancers, with squamous cell carcinoma (SCC) of the head and neck being the most frequent solid tumor associated with this condition.
I – Increased HbF, Increased MCV (Macrocytosis):
FA can cause an increase in fetal hemoglobin (HbF) levels and an elevation in mean corpuscular volume (MCV), leading to macrocytosis (enlarged red blood cells).