Hereditary elliptocytosis epidemiology and demographics

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

Overview

The incidence of hereditary elliptocytosis is hard to determine, as many sufferers of the milder forms of the disorder are asymptomatic and their condition never comes to medical attention.Around 90% of those with this disorder are thought to fall into the asymptomatic population.It is estimated that its incidence is between 3 and 5 per 10,000 in the USA.Some subtypes of hereditary elliptocytosis are significantly more prevalent in regions where malaria is endemic.

Being an almost wholly autosomal dominant disorder, there is no predilection towards either sex in hereditary elliptocytosis.

The most important exception to this rule of autosomal dominant inheritance is for a subtype of hereditary elliptocytosis called hereditary pyropoikilocytosis (HPP). This condition is autosomal recessive.

Epidemiology and Demographics

The incidence of hereditary elliptocytosis is hard to determine, as many sufferers of the milder forms of the disorder are asymptomatic and their condition never comes to medical attention.
Around 90% of those with this disorder are thought to fall into the asymptomatic population.^[1]

Incidence in Developed Countries

It is estimated that its incidence is between 3 and 5 per 10,000 in the USA.^[2]

Incidence in Developing Countries

Those of African and Mediterranean descent are of higher risk.
Some subtypes of hereditary elliptocytosis are significantly more prevalent in regions where malaria is endemic.
For example, in equatorial Africa its incidence approaches 160 per 10,000, and in Malayan natives its incidence is over 15% (1500-2000 per 10,000).^[3]

Gender

Being an almost wholly autosomal dominant disorder, there is no predilection towards either sex in hereditary elliptocytosis.
The most important exception to this rule of autosomal dominant inheritance is for a subtype of hereditary elliptocytosis called hereditary pyropoikilocytosis (HPP). This condition is autosomal recessive. ^[4]

References

↑ Da Costa L, Galimand J, Fenneteau O, Mohandas N (2013). “Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders”. Blood Rev. 27 (4): 167–78. doi:10.1016/j.blre.2013.04.003. PMID 23664421.
↑ BANNERMAN RM, RENWICK JH (1962). “The hereditary elliptocytoses: clinical and linkage data”. Ann Hum Genet. 26: 23–38. PMID 13864689.
↑ Cattani JA, Gibson FD, Alpers MP, Crane GG (1987). “Hereditary ovalocytosis and reduced susceptibility to malaria in Papua New Guinea”. Trans R Soc Trop Med Hyg. 81 (5): 705–9. PMID 3329776.
↑ Keklik M, Unal A, Sivgin S, Kontas O, Eroglu E, Yilmaz S; et al. (2014). “The coincidence of familial mediterranean Fever and hypereosinophilia in a patient with hereditary elliptocytosis”. Indian J Hematol Blood Transfus. 30 (Suppl 1): 138–41. doi:10.1007/s12288-013-0296-6. PMC 4192255. PMID 25332561.

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[pmid23664421-1] Da Costa L, Galimand J, Fenneteau O, Mohandas N (2013). “Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders”. Blood Rev. 27 (4): 167–78. doi:10.1016/j.blre.2013.04.003. PMID 23664421.

[pmid13864689-2] BANNERMAN RM, RENWICK JH (1962). “The hereditary elliptocytoses: clinical and linkage data”. Ann Hum Genet. 26: 23–38. PMID 13864689.

[pmid3329776-3] Cattani JA, Gibson FD, Alpers MP, Crane GG (1987). “Hereditary ovalocytosis and reduced susceptibility to malaria in Papua New Guinea”. Trans R Soc Trop Med Hyg. 81 (5): 705–9. PMID 3329776.

[pmid25332561-4] Keklik M, Unal A, Sivgin S, Kontas O, Eroglu E, Yilmaz S; et al. (2014). “The coincidence of familial mediterranean Fever and hypereosinophilia in a patient with hereditary elliptocytosis”. Indian J Hematol Blood Transfus. 30 (Suppl 1): 138–41. doi:10.1007/s12288-013-0296-6. PMC 4192255. PMID 25332561.

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