The population incidence of thalassemia gene variants in Baise, Guangxi, P. R. China, based on random samples

Figures & data

Table 1. Prevalence of α-thalassemia genotypes in the population of Baise, Guangxi.

Genotype	Detection cases	Carriage rate (%)	Female	Male
αα/αα	3909	81.43	1904	2005
–^SEA/αα	297	6.18	145	152
-α^3.7/αα	215	4.48	109	106
α^CSα/αα	98	2.04	52	46
α^Westmeadα/αα	91	1.90	47	44
-α^4.2/αα	83	1.73	36	47
–^SEA/-α^3.7	20	0.42	9	11
ααα^anti4.2/αα	11	0.23	4	7
ααα^anti3.7/αα	10	0.21	4	6
-α^3.7/-α^3.7	8	0.17	5	3
–^SEA/α^Westmeadα	8	0.17	4	4
-α^2.4/αα	7	0.15	4	3
α^QSα/αα	7	0.15	6	1
-α^3.7/α^CSα	6	0.13	2	4
-α^3.7/α^Westmeadα	6	0.13	3	3
HKαα/αα	5	0.10	0	5
–^SEA/-α^4.2	4	0.08	1	3
–^THAI/αα	4	0.08	1	3
–^SEA/α^CSα	3	0.06	0	3
-α^4.2/α^CSα	2	0.04	1	1
α^CSα/α^Westmeadα	1	0.02	1	0
-α^3.7/-α^4.2	1	0.02	1	0
Hb Q-thailand/αα	1	0.02	0	1
-α^4.2/α^Westmeadα	1	0.02	0	1
-α^21.9/αα	1	0.02	1	0
-α^2.4/α^Westmeadα	1	0.02	1	0

A total of 4800 individuals aged 20–60 years participated in the study, including 2341 female and 2459 male subjects. All samples were collected at our medical examination center (for a healthy population), and the individuals tested had no indication of any hematological disease and were not screened using other laboratory indicators.

Table 2. Proportions of α-thalassemia gene variants in the Baise population.

α-thal variants	Cases	Percentage (%)
–^SEA	332	34.87
-α^3.7	264	27.73
α^CSα	110	11.55
α^Westmeadα	108	11.34
-α^4.2	91	9.56
ααα^anti4.2	11	1.15
ααα^anti3.7	10	1.05
-α^2.4	8	0.84
α^QSα	7	0.74
HKαα	5	0.53
–^THAI	4	0.42
Q-Thailand	1	0.11
-α^21.9	1	0.11

The numbers in the table indicate the total number of α gene variants. For example, the total number of –α^3.7 variants for individuals with the –α^3.7/–α^3.7 genotype was 2.

Table 3. Prevalence of β-thalassemia genotype in the population of Baise, Guangxi.

Genotype	Detection cases	Carriage rate (%)
β^N/β^N	4440	92.50
β^CD17/β^N	145	3.02
β^CD41/42/β^N	106	2.21
β^CD26/β^N	20	0.42
β^IVS-I−1/β^N	18	0.38
β^−28/β^N	17	0.36
β^−50/β^N	16	0.33
β^CD71/72/β^N	15	0.31
β^IVS-II−654/β^N	11	0.23
β^−29/β^N	3	0.06
β^IVS-II−5/β^N	2	0.04
β^−90/β^N	2	0.04
β^CD37/β^N	1	0.02
β^CD27/28/β^N	1	0.02
β^CD43/β^N	1	0.02
β^IVS-I−130/β^N	1	0.02
β^CD17/β^IVS-I−1	1	0.02

Table 4. Proportion of β-thalassemia gene variants in the population of Baise, Guangxi.

β-thal variants	Cases	Percentage (%)
β^CD17	146	40.44
β^CD41/42	106	29.36
β^CD26	20	5.54
β^IVS-I−1	19	5.26
β^−28	17	4.71
β^−50	16	4.43
β^CD71/72	15	4.16
β^IVS-II−654	11	3.05
β^−29	3	0.83
β^IVS-II−5	2	0.55
β^−90	2	0.55
β^CD37	1	0.28
β^CD27/28	1	0.28
β^CD43	1	0.28
β^IVS-I−130	1	0.28

Table 5. Genotypes and number of detected individuals carrying both α- and β- thalassemia variants in the population of Baise, Guangxi.

α-thal genotype	β-thal genotype	Cases
–^SEA/αα	β^CD17/β^N	14
–^SEA/αα	β^CD41/42/β^N	14
α^Westmeadα/αα	β^CD17/β^N	6
-α^4.2/αα	β^CD17/β^N	5
-α^3.7/αα	β^CD17/β^N	7
-α^3.7/αα	β^CD41/42/β^N	4
–^SEA/αα	β^IVS1−1/β^N	3
–^SEA/αα	β^CD26/β^N	3
–^SEA/-α^3.7	β^CD41/42/β^N	3
α^CSα/αα	β^CD17/β^N	5
α^CSα/αα	β^CD26/β^N	2
-α^4.2/αα	β^CD41/42/β^N	3
α^CSα/αα	β^CD41/42/β^N	2
-α^3.7/αα	β^IVS1−1/β^N	2
α^Westmeadα/αα	β^IVS1−1/β^N	1
α^Westmeadα/αα	β^CD41/42/β^N	1
α^Westmeadα/αα	β^CD26/β^N	1
α^Westmeadα/αα	β^−28/β^N	1
–^SEA/α^Westmeadα	β^−28/β^N	1
–^SEA/α^Westmeadα	β^CD17/β^N	1
–^SEA/αα	β^−28/β^N	1
–^SEA/αα	β^CD17/β^IVS1−1	1
–^SEA/αα	β^CD71/72/β^N	1
α^QSα/αα	β^IVS1−1/β^N	1
α^CSα/αα	β^IVS1−1/β^N	1
α^CSα/αα	β^CD71/72/β^N	1
-α^4.2/αα	β^−50/β^N	1
-α^3.7/αα	β^CD71/72/β^N	1
-α^3.7/αα	β^−50/β^N	1
-α^3.7/αα	β^−28/β^N	1
-α^3.7/α^CSα	β^CD71/72/β^N	1

Data Availability Statement

The data and materials are available on request by contacting the corresponding author Long Ju.