Table 3. Estimated prevalence of hTTP... | American Society of Hematology

Table 3.

Estimated prevalence of hTTP using all the 758 pathogenic variants

Population	Total number of alleles	Total number of homozygote	Total number of affected alleles	Collective frequency of variants∗	Heterozygote frequency	Prevalence in 10⁶ individuals	Carrier prevalence in 100 individuals†
All	1 614 324	17	10 154	0.006	0.013	40	1.3
African/African American	75 090	0	395	0.005	0.010	28	1.1
Admixed American	60 038	1	410	0.007	0.014	47	1.4
Ashkenazi Jewish	29 608	0	36	0.001	0.002	1.5	0.2
East Asian	44 896	1	412	0.009	0.018	84	1.8
Finnish	64 052	2	409	0.006	0.013	41	1.3
Middle Eastern	6 062	1	32	0.005	0.011	28	1.1
European (non-Finnish)	1 180 062	11	7 685	0.007	0.013	42	1.3
South Asian	91 092	1	394	0.004	0.009	19	0.9
Remaining	63 424	0	381	0.006	0.012	36	1.2

Population	Total number of alleles	Total number of homozygote	Total number of affected alleles	Collective frequency of variants∗	Heterozygote frequency	Prevalence in 10⁶ individuals	Carrier prevalence in 100 individuals†
All	1 614 324	17	10 154	0.006	0.013	40	1.3
African/African American	75 090	0	395	0.005	0.010	28	1.1
Admixed American	60 038	1	410	0.007	0.014	47	1.4
Ashkenazi Jewish	29 608	0	36	0.001	0.002	1.5	0.2
East Asian	44 896	1	412	0.009	0.018	84	1.8
Finnish	64 052	2	409	0.006	0.013	41	1.3
Middle Eastern	6 062	1	32	0.005	0.011	28	1.1
European (non-Finnish)	1 180 062	11	7 685	0.007	0.013	42	1.3
South Asian	91 092	1	394	0.004	0.009	19	0.9
Remaining	63 424	0	381	0.006	0.012	36	1.2

Collective frequency of variant is calculated as the total number of affected alleles divided by total number of alleles.

Carrier prevalence is calculated from heterozygote frequency multiplied by 100. Prevalence is calculated according to Hardy-Weinberg principle.