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
- HS can present at any age and with any severity, with case reports describing a range of presentations, from hydrops fetalis in utero through diagnosis in the ninth decade of life.[1]
- Children diagnosed early in life usually have a severe form of HS that results in their early presentation. Jaundice is likely to be most prominent in newborns. The magnitude of hyperbilirubinemia may be such that exchange transfusion is required. Approximately 30-50% of adults with HS had a history of jaundice during the first week of life. Recognition of HS as a potential cause of neonatal anemia and hyperbilirubinemia and institution of prompt treatment may reduce the risk of bilirubin-induced neurologic dysfunction in these patients.[2]
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.
References
- ↑ Perrotta S, Gallagher PG, Mohandas N (2008). "Hereditary spherocytosis". Lancet. 372 (9647): 1411–26. doi:10.1016/S0140-6736(08)61588-3. PMID 18940465.
- ↑ Christensen RD, Yaish HM, Gallagher PG (2015). "A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates". Pediatrics. 135 (6): 1107–14. doi:10.1542/peds.2014-3516. PMC 4444801. PMID 26009624.