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:
Overview
Epidemiology and Demographics
FA is rare overall, but it is one of the most common inherited bone marrow failure syndromes.
FA is also relatively more prevalent in parts of the world such as specific regions in the Middle East where tribal and/or local customs with respect to marriage make consanguinity, and thus likelihood of inheriting an autosomal recessive disease, more common. In one series, 30 percent of families had two affected children, and consanguinity was noted in 10 percent [64]. The first description of FA was by Guido Fanconi in 1927, in which he described a family with three boys with birth defects and anemia [67].
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 [disease name].
- The incidence of [disease name] increases with age; the median age at diagnosis is [#] years.
- [Disease name] commonly affects individuals younger than/older than [number of years] years of age.
- [Chronic disease name] is usually first diagnosed among [age group].
- [Acute disease name] commonly affects [age group].
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].