Background
Methods
Sampled cites of Guangdong | Native city residents in the province | Migrants from within the province | Immigrants from outside the province | Total | Statistic values | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Tested individuals | Thalassemia carriers | Prevalence (%95 CI) | Tested individuals | Thalassemia carriers | Prevalence (%95 CI) | Tested individuals | Thalassemia carriers | Prevalence (%95 CI) | Tested individuals | Thalassemia carriers | Prevalence (%95 CI) | ||
East Area | |||||||||||||
Chaozhou | 737 | 84 | 11.40 | 48 | 4 | 8.33 | 202 | 15 | 7.43 | 987 | 103 | 10.44 | χ2 = 2.91, |
Raoping | (9.11, 13.68) | (0.55, 16.11) | (3.83, 11.02) | (8.54, 12.33) | P > 0.05 | ||||||||
Jieyang | 1318 | 135 | 10.24 | 108 | 12 | 11.11 | 54 | 5 | 9.26 | 1480 | 152 | 10.27 | χ2 = 0.14, |
Puning | (8.61, 11.87) | (5.21, 17.01) | (1.57, 16.95) | (8.73, 11.81) | P > 0.05 | ||||||||
Shantou | 620 | 46 | 7.42 | 800 | 76 | 9.50 | 81 | 9 | 11.11 | 1501 | 131 | 8.73 | χ2 = 2.51, |
Jinping | (5.37, 9.47) | (7.48, 11.52) | (4.30, 17.92) | (7.31, 10.15) | P > 0.05 | ||||||||
Shanwei | 1118 | 123 | 11.00 | 60 | 9 | 15.00 | 51 | 4 | 7.84 | 1229 | 136 | 11.07 | χ2 = 1.49, |
Haifeng | (9.18, 12.83) | (6.01, 23.99) | (0.50, 15.18) | (9.32, 12.81) | P > 0.05 | ||||||||
Total | 3793 | 388 | 10.23 | 1016 | 101 | 9.94 | 388 | 33 | 8.51 | 5197 | 522 | 10.04 | χ2 = 1.17, |
(9.27, 11.19) | (8.11, 11.77) | (5.74, 11.27) | (9.23, 10.86) | P > 0.05 | |||||||||
Montain Area | |||||||||||||
Heyuan | 1346 | 265 | 19.69 | 136 | 29 | 21.32 | 91 | 15 | 16.48 | 1573 | 309 | 19.64 | χ2 = 0.82, |
District | (17.57, 21.80) | (14.47, 28.17) | (8.90, 24.07) | (17.69, 21.60) | P > 0.05 | ||||||||
Meizhou | 934 | 199 | 21.31 | 26 | 5 | 19.23 | 42 | 8 | 19.05 | 1002 | 212 | 21.16 | χ2 = 0.18, |
Xingning | (18.69, 23.92) | (4.16, 34.30) | (7.23, 30.86) | (18.64, 23.67) | P > 0.05 | ||||||||
Qingyuan | 1165 | 237 | 20.34 | 88 | 15 | 17.05 | 92 | 16 | 17.39 | 1345 | 268 | 19.93 | χ2 = 0.96, |
Yingde | (18.04, 22.64) | (9.23, 24.86) | (9.69, 25.10) | (17.80, 22.05) | P > 0.05 | ||||||||
Shaoguan | 981 | 185 | 18.86 | 164 | 20 | 12.20 | 139 | 17 | 12.23 | 1284 | 222 | 17.29 | χ2 = 7.15, |
District | (16.42, 21.29) | (7.21, 17.18) | (6.81, 17.65) | (15.23, 19.35) | P < 0.05 | ||||||||
Yunfu | 1048 | 265 | 25.29 | 295 | 67 | 22.71 | 95 | 11 | 11.58 | 1438 | 343 | 23.85 | χ2 = 9.28, |
Luoding | (22.67, 27.90) | (17.96, 27.47) | (5.18, 17.98) | (21.66, 26.04) | P < 0.01 | ||||||||
Total | 5474 | 1151 | 21.03 | 709 | 136 | 19.18 | 459 | 67 | 14.60 | 6642 | 1354 | 20.39 | χ2 = 11.50, |
(19.95, 22.10) | (16.30, 22.07) | (11.38, 17.81) | (19.42, 21.35) | P < 0.05 | |||||||||
The Pearl River Delta | |||||||||||||
Dongguan | 959 | 130 | 13.56 | 412 | 76 | 18.45 | 111 | 6 | 5.41 | 1482 | 212 | 14.30 | χ2 = 13.38, |
District | (11.40, 15.71) | (14.72, 22.17) | (1.22, 9.59) | (12.53, 16.08) | P < 0.01 | ||||||||
Foshan | 847 | 123 | 14.52 | 466 | 93 | 19.96 | 100 | 11 | 11.00 | 1413 | 227 | 16.07 | χ2 = 8.63, |
(16.35, 23.57) | (4.90, 17.10) | (14.16, 17.97) | P < 0.05 | ||||||||||
Nanhai | (12.16, 16.88) | ||||||||||||
Guangzhou | 756 | 93 | 12.30 | 375 | 64 | 17.07 | 96 | 9 | 9.38 | 1227 | 166 | 13.53 | χ2 = 6.40, |
Panyu | (9.97, 14.63) | (13.28, 20.86) | (3.57, 15.18) | (11.62, 15.43) | P < 0.05 | ||||||||
Huizhou | 854 | 170 | 19.91 | 502 | 69 | 13.75 | 118 | 9 | 7.63 | 1474 | 248 | 16.82 | χ2 = 16.33, |
District | (17.24, 22.57) | (10.75, 16.74) | (2.86, 12.39) | (14.92, 18.72) | P < 0.001 | ||||||||
Jiangmen | 1282 | 231 | 18.02 | 121 | 20 | 16.53 | 47 | 5 | 10.64 | 1450 | 256 | 17.66 | χ2 = 1.81, |
Xinhui | (15.93, 20.11) | (9.94, 23.11) | (1.87, 19.41) | (15.70, 19.61) | P > 0.05 | ||||||||
Shenzhen | 194 | 29 | 14.95 | 913 | 149 | 16.32 | 174 | 14 | 8.05 | 1281 | 192 | 14.99 | χ2 = 7.85, |
Baoan | (9.96, 19.94) | (13.93, 18.70) | (4.02, 12.07) | (13.04, 16.93) | P < 0.05 | ||||||||
Zhaoqing | 1143 | 215 | 18.81 | 191 | 46 | 24.08 | 85 | 15 | 17.65 | 1419 | 276 | 19.45 | χ2 = 3.09, |
Sihui | (16.56, 21.06) | (18.05, 30.12) | (9.58, 25.71) | (17.40, 21.50) | P > 0.05 | ||||||||
Zhongshan | 705 | 85 | 12.06 | 174 | 32 | 18.39 | 569 | 65 | 11.42 | 1448 | 182 | 12.57 | χ2 = 6.21, |
District | (9.67, 14.45) | (12.66, 24.12) | (8.82, 14.02) | (10.87, 14.27) | P < 0.05 | ||||||||
Zhuhai | 675 | 115 | 17.04 | 382 | 72 | 18.85 | 106 | 15 | 14.15 | 1163 | 202 | 17.37 | χ2 = 1.40, |
Doumen | (14.22, 19.86) | (14.95, 22.75) | (7.55, 20.75) | (15.20, 19.54) | P > 0.05 | ||||||||
Total | 7415 | 1191 | 16.06 | 3536 | 621 | 17.56 | 1406 | 149 | 10.60 | 12357 | 1961 | 15.87 | χ2 = 37.06, |
(15.23, 16.89) | (16.31, 18.81) | (9.00, 12.20) | (15.23, 16.51) | P < 0.001 | |||||||||
West Area | |||||||||||||
Maoming | 1292 | 240 | 18.58 | 47 | 5 | 10.64 | 75 | 10 | 13.33 | 1414 | 255 | 18.03 | χ2 = 3.1, |
Huazhou | (16.47, 20.69) | (1.87, 19.41) | (5.68, 20.99) | (16.04, 20.03) | P > 0.05 | ||||||||
Yangjiang | 1393 | 355 | 25.48 | 74 | 4 | 5.41 | 54 | 8 | 14.81 | 1521 | 367 | 24.13 | χ2 = 18.13, |
Yangchun | (23.21, 27.76) | (0.28, 10.53) | (5.39, 24.24) | (21.99, 26.27) | P < 0.001 | ||||||||
Zhanjiang | 982 | 166 | 16.90 | 265 | 39 | 14.72 | 101 | 22 | 21.78 | 1348 | 227 | 16.84 | χ2 = 2.62, |
Lianjiang | (14.57, 19.24) | (10.47, 18.96) | (13.77, 29.79) | (14.85, 18.83) | P > 0.05 | ||||||||
Total | 3667 | 761 | 20.75 | 386 | 48 | 12.44 | 230 | 40 | 17.39 | 4283 | 849 | 19.82 | χ2 = 16.11, |
(19.45, 22.06) | (9.16, 15.71) | (12.52, 22.26) | (18.63, 21.01) | P < 0.001 | |||||||||
All Guangdong | 20349 | 3491 | 17.16 | 5647 | 906 | 16.04 | 2483 | 289 | 11.64 | 28479 | 4686 | 16.45 | χ2 = 49.85, |
(16.64, 17.67) | (15.09, 17.00) | (10.38, 12.89) | (16.03, 16.88) | P < 0.001 |
Detection of α- and β-globin gene mutations
Statistical analysis
Results
Individuals only with α-thalassemia | Individuals only with β-thalassemia | Individuals combined α-/β- thalassemia carriers | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Genotypes | Frequency | Prevalence (%95 CI) | Genotypes (clinic forms) | Frequency | Prevalence (%95 CI) | Genotypes (clinic forms) | Frequency | Prevalence (%95 CI) | Genotypes (clinic forms) | Frequency | Prevalence (%95 CI) |
α+-thalassemia | 1626 | 5.71% (5.44, 5.98) | β-thalassemia minor | 1077 | 3.78 (3.56, 4.00) | --SEA/αα, β41–42/βN (α0, β0/βN) | 34 | 0.12 (0.08,0.16) | --SEA/α3.7, β41–42/βN (HbH, β0/βN) | 1 | 0.00 (0.00,0.01) |
α3.7α/αα | 911 | 3.20 (3.00, 3.40) | β41–42/βN (β0/βN) | 415 | 1.46 (1.32, 1.60) | --SEA/αα, β654/βN (α0, β0/βN) | 25 | 0.09 (0.05,0.12) | --SEA/αα, β-28/βIVS-1 (α0, β+/β0) | 1 | 0.00 (0.00,0.01) |
α4.2α/αα | 313 | 1.10 (0.98, 1.22) | β654/βN (β0/βN) | 281 | 0.99 (0.87, 1.10) | α3.7/αα, β41–42/βN (α+, β0/βN) | 20 | 0.07 (0.04,0.10) | --SEA/αα, β-29/βN (α0, β+/βN) | 1 | 0.00 (0.00,0.01) |
αWSα/αα | 239 | 0.84 (0.73, 0.94) | β17/βN (β0/βN) | 95 | 0.33 (0.27, 0.40) | α3.7/αα, β-28/βN (α+, β+/βN) | 11 | 0.04 (0.02,0.06) | --SEA/αα, βIVS-5/βN
(α0, β+/βN) | 1 | 0.00 (0.00,0.01) |
αCSα/αα | 83 | 0.29 (0.23, 0.35) | β71–72/βN (β0/βN) | 24 | 0.08 (0.05, 0.12) | --SEA/αα, β-28/βN (α0, β+/βN) | 9 | 0.03 (0.01,0.05) | α3.7/αCSα, β41–42/βN
(α0, β0/βN) | 1 | 0.00 (0.00,0.01) |
αQSα/αα | 47 | 0.17 (0.12, 0.21) | β27–28/βN (β0/βN) | 19 | 0.07 (0.04, 0.10) | α3.7/αα, β654/βN (α+, β0/βN) | 8 | 0.03 (0.01,0.05) | α3.7/αα, β-29/βN
(α+, β+/βN) | 1 | 0.00 (0.00,0.01) |
α3.7α/α4.2α | 9 | 0.03 (0.01, 0.05) | β14–15/βN (β0/βN) | 10 | 0.04 (0.01, 0.06) | αWSα/αα, β41–42/βN (α+, β0/βN) | 7 | 0.02 (0.01,0.04) | α3.7/αα, βIVS-1/βN
(α+, β0/βN) | 1 | 0.00 (0.00,0.01) |
α3.7α/α3.7α | 8 | 0.03 (0.01, 0.05) | β43/βN (β0/βN) | 6 | 0.02 (0.00, 0.04) | α4.2/αα, β41–42/βN (α+, β0/βN) | 6 | 0.02 (0.00,0.04) | αCSα/αα, β17/βN (α+, β0/βN) | 2 | 0.01 (0.00,0.02) |
α3.7α/αWSα | 5 | 0.02 (0.00, 0.03) | βIVS-1/βN (β0/βN) | 6 | 0.02 (0.00, 0.04) | --SEA/αα, β17/βN (α0, β0/βN) | 4 | 0.01 (0.00,0.03) | αCSα/αα, β654/βN (α+, β0/βN) | 2 | 0.01 (0.00,0.02) |
α3.7α/αCSα | 3 | 0.01 (0.00, 0.02) | βInt/βN (β0/βN) | 1 | 0.00 (0.00, 0.01) | --SEA/αα, βE/βN (α0, β+/βN) | 4 | 0.01 (0.00,0.03) | α3.7/αα, βIVS-5/βN (α+, β+/βN) | 1 | 0.00 (0.00,0.01) |
α3.7α/αQSα | 3 | 0.01 (0.00, 0.02) | β-28/βN (β+/βN) | 155 | 0.54 (0.46, 0.63) | α3.7/αα, β17/βN (α+, β0/βN) | 4 | 0.01 (0.00,0.03) | α4.2/αα, β71–72/βN
(α+, β0/βN) | 1 | 0.00 (0.00,0.01) |
α4.2α/αWSα | 3 | 0.01 (0.00, 0.02) | βE/ βN (β+/βN) | 24 | 0.08 (0.05, 0.12) | α4.2/αα, β-28/βN (α+, β+/βN) | 4 | 0.01 (0.00,0.03) | α4.2/αα, βCap/βN
(α+, β+/βN) | 1 | 0.00 (0.00,0.01) |
α4.2α/αCSα | 1 | 0.00 (0.00, 0.01) | βCap/βN (β+/βN) | 23 | 0.08 (0.05, 0.11) | αCSα/αα, β41–42/βN (α+, β0/βN) | 4 | 0.01 (0.00,0.03) | αCSα/αα, β-28/βN
(α+, β+/βN) | 1 | 0.00 (0.00,0.01) |
α4.2α/αQSα | 1 | 0.00 (0.00, 0.01) | β-29/βN (β+/βN) | 17 | 0.06 (0.03, 0.09) | α3.7/αα, β71–72/βN (α+, β0/βN) | 3 | 0.01 (0.00,0.02) | αWSα/αα, β71–72/βN
(α+, β0/βN) | 1 | 0.00 (0.00,0.01) |
α0-thalassemia | 1743 | 6.12 (5.84, 6.40) | βIVS-5/βN (β+/βN) | 1 | 0.00 (0.00, 0.01) | α4.2/αα, β17/βN (α+, β0/βN) | 3 | 0.01 (0.00,0.02) | αWSα/αα, βE/βN
(α+, β+/βN) | 1 | 0.00 (0.00,0.01) |
--SEA/αα | 1743 | 6.12 (5.84, 6.40) | β-thalassemia intermedia | 4 | 0.01 (0.00, 0.03) | α4.2/αα, β654/βN (α+, β0/βN) | 3 | 0.01 (0.00,0.02) | αWSα/αα, βIVS-1/βN (α+, β0/βN) | 1 | 0.00 (0.00,0.01) |
HbH disease | 58 | 0.20 (0.15, 0.26) | β-28/βE (β+/β+) | 1 | 0.00 (0.00, 0.01) | --SEA/α3.7, β654/βN (HbH, β0/βN) | 2 | 0.01 (0.00,0.02) | |||
--SEA/α3.7
| 33 | 0.12 (0.08, 0.16) | β41–42/βCap (β0/β+) | 1 | 0.00 (0.00, 0.01) | --SEA/αCSα, β41–42/βN (HbH, β0/βN) | 2 | 0.01 (0.00,0.02) | |||
--SEA/α4.2
| 15 | 0.05 (0.03, 0.08) | β41–42/βE (β0/β+) | 1 | 0.00 (0.00, 0.01) | --SEA/αα, β71–72/βN (α0, β0/βN) | 2 | 0.01 (0.00,0.02) | |||
--SEA/αWSα | 5 | 0.02 (0.00, 0.03) | β-28/β17 (β+/β0) | 1 | 0.00 (0.00, 0.01) | α4.2/αα, βE/βN (α+, β+/βN) | 2 | 0.01 (0.00,0.02) | |||
--SEA/αCSα | 3 | 0.01 (0.00, 0.02) | αWSα/αα, β654/βN (α+, β0/βN) | 2 | 0.01 (0.00,0.02) | ||||||
--SEA/αQSα | 2 | 0.01 (0.00, 0.02) | --SEA/α3.7, β17/βN (HbH, β0/βN) | 1 | 0.00 (0.00,0.01) | ||||||
Total | 3427 | 12.03 (11.66, 12.41) | Total | 1081 | 3.80 (3.57,4.02) | Total | 178 | 0.63 (0.53,0.72) |