Hemophilia A epidemiology and demographics: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Hemophilia A}} | {{Hemophilia A}} | ||
{{CMG}} | {{CMG}}{{AE}}{{FNY}} {{VE}} | ||
==Overview== | |||
The incidence of [[Hemophilia A]] is approximately 1 per 5,000 to 10,000 males worldwide. In 2016, it was estimated that 20,000 males in the [[United States]] were living with Hemophilia A.<ref>What is Hemophilia? – NHLBI, NIH. Available at http://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia. Accessed on Sept 20, 2016 </ref> | |||
== | In contrast, [[Hemophilia B]] is a much rarer disease affecting 1 in 30,000 males worldwide. | ||
[[Hemophilia C]] is a much rarer disease affecting only 1:1,000,000 individuals but it is more frequent among Ashkenazi Jews (1:450 individuals)<ref name="pmid7811996">{{cite journal| author=Shpilberg O, Peretz H, Zivelin A, Yatuv R, Chetrit A, Kulka T et al.| title=One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews. | journal=Blood | year= 1995 | volume= 85 | issue= 2 | pages= 429-32 | pmid=7811996 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7811996 }}</ref>. | |||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
; Age : Patients of all age groups may present with | ; Age : Patients of all age groups may present with hemophilia A and B. Patients with more severe disease (i.e. greater deficiency in [[Factor VIII]]/[[Factor IX|IX]]) present earlier(usually neonatal or infantile period) than those with only mild disease. Acquired hemophilia usually presents in middle-aged or elderly individuals, as well as in females in the peri-partum period<ref name="pmid26679396">{{cite journal| author=Kessler CM, Knöbl P| title=Acquired haemophilia: an overview for clinical practice. | journal=Eur J Haematol | year= 2015 | volume= 95 Suppl 81 | issue= | pages= 36-44 | pmid=26679396 | doi=10.1111/ejh.12689 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26679396 }}</ref>. | ||
; Gender : | ; Gender : As Hemophilia A and B inheritance is linked to chromosome X and the gene is recessive, the disease mainly appears in males as they have only one X chromosome and the penetrance is 100%. In rare cases, females [[heterozygous]] for the condition may present with features of the disease, due to random X-inactivation or [[lyonization]] or patients with [[Turner syndrome]]. Hemophilia C is an autosomal disease and its incidence is not gender dependent<ref name="pmid23929304">{{cite journal| author=Duga S, Salomon O| title=Congenital factor XI deficiency: an update. | journal=Semin Thromb Hemost | year= 2013 | volume= 39 | issue= 6 | pages= 621-31 | pmid=23929304 | doi=10.1055/s-0033-1353420 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23929304 }}</ref>. | ||
; Race : There is no racial predilection for Hemophilia A | ; Race : There is no racial predilection for Hemophilia A and B.<ref>Data & Statistics | Hemophilia | NCBDDD | CDC. Available at http://www.cdc.gov/ncbddd/hemophilia/data.html Accessed on July 30,2016 </ref> | ||
==References== | ==References== | ||
Latest revision as of 09:17, 29 January 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Fahd Yunus, M.D. [2] Vahid Eidkhani, M.D.
Overview
The incidence of Hemophilia A is approximately 1 per 5,000 to 10,000 males worldwide. In 2016, it was estimated that 20,000 males in the United States were living with Hemophilia A.[1]
In contrast, Hemophilia B is a much rarer disease affecting 1 in 30,000 males worldwide.
Hemophilia C is a much rarer disease affecting only 1:1,000,000 individuals but it is more frequent among Ashkenazi Jews (1:450 individuals)[2].
Epidemiology and Demographics
- Age
- Patients of all age groups may present with hemophilia A and B. Patients with more severe disease (i.e. greater deficiency in Factor VIII/IX) present earlier(usually neonatal or infantile period) than those with only mild disease. Acquired hemophilia usually presents in middle-aged or elderly individuals, as well as in females in the peri-partum period[3].
- Gender
- As Hemophilia A and B inheritance is linked to chromosome X and the gene is recessive, the disease mainly appears in males as they have only one X chromosome and the penetrance is 100%. In rare cases, females heterozygous for the condition may present with features of the disease, due to random X-inactivation or lyonization or patients with Turner syndrome. Hemophilia C is an autosomal disease and its incidence is not gender dependent[4].
- Race
- There is no racial predilection for Hemophilia A and B.[5]
References
- ↑ What is Hemophilia? – NHLBI, NIH. Available at http://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia. Accessed on Sept 20, 2016
- ↑ Shpilberg O, Peretz H, Zivelin A, Yatuv R, Chetrit A, Kulka T; et al. (1995). "One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews". Blood. 85 (2): 429–32. PMID 7811996.
- ↑ Kessler CM, Knöbl P (2015). "Acquired haemophilia: an overview for clinical practice". Eur J Haematol. 95 Suppl 81: 36–44. doi:10.1111/ejh.12689. PMID 26679396.
- ↑ Duga S, Salomon O (2013). "Congenital factor XI deficiency: an update". Semin Thromb Hemost. 39 (6): 621–31. doi:10.1055/s-0033-1353420. PMID 23929304.
- ↑ Data & Statistics | Hemophilia | NCBDDD | CDC. Available at http://www.cdc.gov/ncbddd/hemophilia/data.html Accessed on July 30,2016