Hereditary spherocytosis epidemiology and demographics

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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Overview

HS is seen in all populations but appears to be especially common in people of northern European ancestry.

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)

Incidence

• In the United States, the incidence of the disorder is approximately one case in 5000 people.
• Given that approximately 25% of all HS is autosomal recessive, calculations indicate that 1.4% of the US population might be silent carriers of HS.

Prevalence

• In northern European, HS affects as many as 1 in 2000 to 1 in 5000 (prevalence, approximately 0.02 to 0.05 percent) [6,7,62,75].
• The frequency is thought to be lower in individuals from other parts of the world such as Africa and Southeast Asia, although comprehensive population survey data are unavailable.

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.
• Most children are diagnosed between six and nine years of age, concurrent with the onset of bone marrow failure . 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.
• 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.
• 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

• Fanconi Anemia slightly more common in male than female with ratio of 1.2:1 (M:F)

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.

Developed Countries

There is no particular relation of FA with developed countries.

Developing Countries

There is no particular relation of FA with developing countries.