The incidence of aplastic anemia (AA) in Europe and North America is thought to be between 2 and 3 per million population per year based on studies in Europe.[12]International Agranulocytosis and Aplastic Anemia Study Group. Incidence of aplastic anemia: the relevance of diagnostic criteria. Blood. 1987 Dec;70(6):1718-21.
http://www.ncbi.nlm.nih.gov/pubmed/3676511?tool=bestpractice.com
[13]Vaht K, Göransson M, Carlson K, et al. Incidence and outcome of acquired aplastic anemia: real-world data from patients diagnosed in Sweden from 2000-2011. Haematologica. 2017 Oct;102(10):1683-90.
http://www.haematologica.org/content/102/10/1683.long
http://www.ncbi.nlm.nih.gov/pubmed/28751565?tool=bestpractice.com
[14]Montané E, Ibáñez L, Vidal X, et al. Epidemiology of aplastic anemia: a prospective multicenter study. Haematologica. 2008 Apr;93(4):518-23.
https://haematologica.org/article/view/4811
http://www.ncbi.nlm.nih.gov/pubmed/18322256?tool=bestpractice.com
[15]Vallejo C, Rosell A, Xicoy B, et al. A multicentre ambispective observational study into the incidence and clinical management of aplastic anaemia in Spain (IMAS study). Ann Hematol. 2024 Mar;103(3):705-13.
http://www.ncbi.nlm.nih.gov/pubmed/38175253?tool=bestpractice.com
There is no sex imbalance. Patients can be affected at any age, although there is a biphasic age distribution with peaks from approximately 15 to 25 years and >60 years.[13]Vaht K, Göransson M, Carlson K, et al. Incidence and outcome of acquired aplastic anemia: real-world data from patients diagnosed in Sweden from 2000-2011. Haematologica. 2017 Oct;102(10):1683-90.
http://www.haematologica.org/content/102/10/1683.long
http://www.ncbi.nlm.nih.gov/pubmed/28751565?tool=bestpractice.com
[14]Montané E, Ibáñez L, Vidal X, et al. Epidemiology of aplastic anemia: a prospective multicenter study. Haematologica. 2008 Apr;93(4):518-23.
https://haematologica.org/article/view/4811
http://www.ncbi.nlm.nih.gov/pubmed/18322256?tool=bestpractice.com
The incidence of AA is reported to be 2 to 3 times greater in East Asia than in North America and Europe.[16]Young NS, Kaufman DW. The epidemiology of acquired aplastic anemia. Haematologica. 2008 Apr;93(4):489-92.
http://www.haematologica.org/content/93/4/489.long
http://www.ncbi.nlm.nih.gov/pubmed/18379007?tool=bestpractice.com
[17]Norasetthada L, Wongkhantee S, Chaipokam J, et al. Adult aplastic anemia in Thailand: incidence and treatment outcome from a prospective nationwide population-based study. Ann Hematol. 2021 Oct;100(10):2443-52.
https://link.springer.com/article/10.1007/s00277-021-04566-0
http://www.ncbi.nlm.nih.gov/pubmed/34269837?tool=bestpractice.com
[18]Li SS, Hsu YT, Chang C, et al. Incidence and treatment outcome of aplastic anemia in Taiwan-real-world data from single-institute experience and a nationwide population-based database. Ann Hematol. 2019 Jan;98(1):29-39.
http://www.ncbi.nlm.nih.gov/pubmed/30178191?tool=bestpractice.com
Possible reasons include: increased exposure to drugs, toxins, and viruses; higher incidence of inherited AA or genetic predisposition, such as polymorphisms of tumor necrosis factor-alpha, interferon-gamma, and drug detoxifying enzymes (GSTM1 and GSTT1); and regional variations in the diagnostic criteria and classification of AA and other bone marrow disorders (e.g., hypoplastic myelodysplastic syndrome).[4]Young NS. Acquired aplastic anemia. Ann Intern Med. 2002 Apr 2;136(7):534-46.
http://www.ncbi.nlm.nih.gov/pubmed/11926789?tool=bestpractice.com
[19]Kojima S. Why is the incidence of aplastic anemia higher in Asia? Expert Rev Hematol. 2017 Apr;10(4):277-9.
https://www.tandfonline.com/doi/full/10.1080/17474086.2017.1302797
http://www.ncbi.nlm.nih.gov/pubmed/28264622?tool=bestpractice.com
Congenital AA was previously considered rare, but an increasing number of patients with presumed acquired AA are now being diagnosed with germline mutations (e.g., inherited telomeropathies) with the use of next-generation sequencing.[8]Townsley DM, Dumitriu B, Young NS. Bone marrow failure and the telomeropathies. Blood. 2014 Oct 30;124(18):2775-83.
https://ashpublications.org/blood/article/124/18/2775/33368/Bone-marrow-failure-and-the-telomeropathies
http://www.ncbi.nlm.nih.gov/pubmed/25237198?tool=bestpractice.com
[20]Liang J, Yagasaki H, Kamachi Y, et al. Mutations in telomerase catalytic protein in Japanese children with aplastic anemia. Haematologica. 2006 May;91(5):656-8.
http://www.haematologica.org/content/91/5/656.long
http://www.ncbi.nlm.nih.gov/pubmed/16627250?tool=bestpractice.com
[21]Marsh JCW, Gutierrez-Rodrigues F, Cooper J, et al. Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms. Blood Adv. 2018 Jan 4;2(1):36-48.
http://www.bloodadvances.org/content/2/1/36?sso-checked=true
http://www.ncbi.nlm.nih.gov/pubmed/29344583?tool=bestpractice.com
[22]Cardoso SR, Ellison ACM, Walne AJ, et al. Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies. Haematologica. 2017 Aug;102(8):e293-6.
http://www.haematologica.org/content/102/8/e293.long
http://www.ncbi.nlm.nih.gov/pubmed/28495916?tool=bestpractice.com
[23]Bluteau O, Sebert M, Leblanc T, et al. A landscape of germ line mutations in a cohort of inherited bone marrow failure patients. Blood. 2018 Feb 15;131(7):717-32.
http://www.ncbi.nlm.nih.gov/pubmed/29146883?tool=bestpractice.com
One of the most common congenital causes is Fanconi anemia.[24]Dufour C. How I manage patients with Fanconi anaemia. Br J Haematol. 2017 Jul;178(1):32-47.
http://www.ncbi.nlm.nih.gov/pubmed/28474441?tool=bestpractice.com
Patients with congenital AA most commonly present in early childhood, but can sometimes present as young adults and occasionally in their 30s or 40s, and very rarely, in their 50s.[25]Park M. Overview of inherited bone marrow failure syndromes. Blood Res. 2022 Apr 30;57(s1):49-54.
https://pmc.ncbi.nlm.nih.gov/articles/PMC9057667
http://www.ncbi.nlm.nih.gov/pubmed/35483926?tool=bestpractice.com