Fanconi anemia epidemiology and demographics

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Epidemiology and Demographics

FA is rare overall, but it is one of the most common inherited bone marrow failure syndromes.

Historically, the heterozygote frequency for pathogenic FA mutations has been estimated to be 1:300 in the United States and Europe and 1:100 in Ashkenazi Jews and South African Afrikaners. A 2011 study using demographic data from the Fanconi Anemia Research Fund estimated a higher carrier frequency in the United States (within the range of 1:156 to 1:209) and in Israel (within the range of 1:66 to 1:128) [65].

Incidence

• The incidence of FA is approximately 1 in 100,000 to 250,000 births
• In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.

Prevalence

• The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide.
• In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.
• The prevalence of [disease/malignancy] is estimated to be [number] cases annually.

Age

• Patients of all age groups may develop FA.
• The age of onset of bone marrow failure in patients with FA is highly variable, even among siblings. 
• Approximately 3 out of every 4 patients develop evidence of marrow failure ranging from mild to severe within the first decade of life (4-6) . Rarely, marrow failure from FA can present in infants and small children. 
• An analysis of 754 patients in the International Fanconi Anemia Registry (IFAR) suggested that the average age of onset is 7.6 years. However, that study analyzed patients who mainly had defects in the FANCA, FANCC, and FANCG genes, which are the most frequently mutated FA genes; therefore, the results may not be representative of patients with rarer gene defects (5) .
• In adults as compared to children, FA is less commonly diagnosed due to primary bone marrow failure; instead, the diagnosis of FA more commonly occurs as a consequence of presentation with cancer or with severe toxicity after chemotherapy treatment for a malignancy (7,8).
• Severe, usually transient, bone marrow failure can also develop in non-transplanted female patients with FA during pregnancy.

Race

• There is no racial predilection to FA. As it is found is all races and ethinic group.
• Ethinic groups with higher than average prevalence of FA include Jews, Spanish Gypsies and Black and Afrikaner population from South Africa. These increases prevalence are due to specific founder mutations. Other countried where found founder mutation include Tunisia, Japan, Korea and Brazil.

Gender

• [Disease name] affects men and women equally.
• [Gender 1] are more commonly affected by [disease name] than [gender 2]. The [gender 1] to [gender 2] ratio is approximately [number > 1] to 1.

Region

• The FA cases are more prevalent in Middle East parts of the World where tribal and/or local customs with respect to marriage make consanguinity, and thus higher probability of inheriting an autosomal recessive disease more common.

• [Disease name] is a common/rare disease that tends to affect [patient population 1] and [patient population 2].