A Family Guide to Non-Oncologic Blood Disorders
Fanconi Anemia
What is fanconi anemia? Fanconi anemia (FA) is a rare inherited blood disorder and a common form of bone marrow failure. Bone marrow failure results in low blood counts when bone marrow does not pro- duce normal numbers of blood components such as red blood cells, white blood cells, and platelets. The mutation, or defect, that causes FA affects multiple genes on the X chromosome and can occur in all races and ethnicities. Affected children are born with one affected gene from each parent, and families may have more than one child affected with FA. Because of the genetic defect in DNA repair, people with FA are sensitive to drugs that treat cancer. Most children with FA are diagnosed between 6–9 years of age; however, a delay in diagnoses can occur until adulthood. A small percentage of children with FA are recognized at birth through 1 year of age. FA should be considered in children with unexplained ane- mia (low red blood cells), thrombocytopenia (low platelets), neutropenia (low white blood cells), unexplained macrocy- tosis (enlarged red blood cells), or an affected sibling. FA also may be considered in patients with cancers presenting at an unusually young age or a family history suggestive of a cancer predisposition syndrome. The following are the most common symptoms of FA. However, each child may experience symptoms differently. Symptoms may include: • Frequent nosebleeds
the palm of the hand at the base of the thumb) • Low set ears • Microcephaly (smaller than average head) • Hydrocephaly (collection of water in the head) • Smaller than average genitals • Developmental delay
How is FA diagnosed? FA may initially be misdiagnosed as another blood disorder be- cause it can take months to years to evolve in some children. Children without the common congenital malformations may initially present with an unexplained low blood count in any cell line on a routine complete blood count (CBC). If these low counts persist or progress, your child should be referred to a pediatric hematologist. What tests and procedures will my child need? • Complete medical and family history • Physical examination • CBC to look for cytopenias (low numbers of cell types) and macrocytosis (large red blood cells) • Hemoglobin profile to look for fetal hemoglobin, which is increased in FA • Serum alpha-fetoprotein to test increased levels in FA • Chromosomal breakage blood tests to rule out any other syndromes • Bone marrow evaluations including aspiration (a small sample of the liquid part in center of large bones using a special type of needle) and biopsy (a small sample of the liquid part in center of large bones using a special type of needle) What are the treatment options for FA? Your medical team will determine the best treatment plan for your child based on the severity of your child’s bone mar- row dysfunction. Initially, patients are supported with blood transfusions as indicated for cytopenias, but this does not fix the cause of the bone marrow failure. Once a diagnosis of FA is made, therapy is directed at treating the failing bone marrow.
• Fever, ulcers in the mouth, or recurrent infections due to neutropenia • Shortness of breath • Blood in urine or stool
and easy bruising due to low platelets (throm- bocytopenia)
• Tiredness • Pale coloring • Poor growth
Many children with FA are born with physical malformations that are common for the disease, including: • Short stature • Hypopigmented spots (lighter areas on skin) or café-au- lait spots (darker areas on skin) • Upper extremity abnormalities: absent or underde- veloped thumbs, absent ulnar radii, and absent or underdeveloped thenar eminence (group of muscles in
Fanconi Anemia
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