Prevalence of α- and β-globin gene mutations among couples in Hainan Province
We first examined 3049 couples of Hainan Province and diagnosed 1) 4923 cases as carrying α- thalassemia, accounting for 80.73%, with the mutation rates of. 31.53% for ––SEA/αα deletions, 11.15% for –α4.2 deletions and 11.02% for –α3.7 deletions, respectively (Table 2); 2) 2225 cases as carrying β- thalassemia, accounting for 34.69% of the total number of patients, with the mutation rates of 30.27% for CD41/42, 2.56% and 1.02% for − 28 and IVS-II-654, respectively; 3) 1322 cases as carrying compound α- and β-thalassemia, accounting for 20.99% of the total number of patients; and 4) among them, the five most frequent types were − α3.7/αα, −α4.2/αα, −αWS/αα, −α3.7/−α4.2 and ––SEA/αα, with all accompanied by CD41/42, accounting for 4.49%, 4.25%, 2.35%, 1.67% and 1.53% of all the subjects, respectively.
Geographical distribution of α- and β-thalassemia gene mutations in eighteen regions of Hainan
Characterization of thalassemia mutations in the risk couples had been performed before the fetal samples were collected. During the 17-year period (2004–2020), a total of 3,049 subjects were screened for thalassemia at Prenatal Diagnosis Center of The First Affiliated Hospital of Hainan Medical University. The rates of α-thalassemia carrier in 3,049 couples of Hainan varied between 1.38% and 13.63% in eighteen regions. The rate was higher in coastal region (Haikou, Sanya, Lingshui, Danzhou, Ledong, Fig. 1A). The β-thalassemia carrier showed less variation, ranging from 0.67–4.39% in eighteen regions, which was higher in the coastal regions (Sanya, Haikou, Lingshui, Dongfang, Ledong, Fig. 1B). The rate of α- and β-thalassemia carrier presented less variation in eighteen regions, ranging from 0.23–3.1%. The distributed status was similar to that of β-thalassemia carriers (Fig. 1C). We then analyzed the prevalence of α- and β-thalassemia mutations in eighteen regions of Hainan Province. The geographical distribution of α-thalassemia mutations is shown in Table 3. A significantly higher frequency of the —SEA/αα mutation was found in the general population of Hainan Province. Twenty-four types of α-thalassemia were identified in eighteen regions of Hainan Province. ––SEA/αα, −α4.2/αα and − α3.7/αα are the most frequent α- thalassemia types in Haikou, Wenchang, Wuzhishan, Lingao, Ding’an, Sanya, Danzhou, Qionghai, Dongfang, Tunchang, Chengmai, Changjiang, Baisha, Baoting, Lingshui and Dongfang, while the most common genotypes were − α4.2/αα, −α3.7/αα and –αWS/αα in Wanning and Qiongzhong, six mutations (–αQS/––SEA, –αQS/-αQS, –αCS/-αWS, –α4.2/-αCS, –αCS/––SEA, –α3.7/-αCS) were observed at a frequency of less than 1% in eighteen regions. In general, the percentage of α-thalassemia mutation genes were in a similar tendency in different regions.
The geographical distribution of β-thalassemia mutations is shown in Table 4. Sixteen different point mutations of β-thalassemia were identified. CD41/42 (> 50%) was the most common mutation in eighteen regions, and five mutations (Int, CD17, IVS-I-1, CD43, CD27/28, Cap, CD14/15) were observed at a frequency of less than 1%.
Fifty-eight types of compound gene mutations were detected. The specific phenotype and frequency are shown in Table S1 (Supplementary Information). 1,319 cases carried both α and β-globin gene mutations and, among them, the seven most frequent types were − α4.2/αα, −α3.7/αα, αWS/αα, ––SEA/αα, –α3.7/-α4.2, –α3.7/-αWS, –α3.7/-α3.7 and –α4.2/-α4.2, all of which were accompanied by CD41/42 in eighteen regions of Hainan Province.
Table 3
Distribution of -thalassemia mutations in Hainan province
α |
Genotype | Haikou | Wenchang | Wuzhishan | Lingao | Ding’an | Sanya | Danzhou | Qionghai | Dongfang | Wanning | Tunchang | Chengmai | Changjiang | Qiongzhong | Baisha | Baoting | Lingshui | Ledong |
Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) |
––SEA/αα | 55.60 | 64.57 | 17.73 | 53.85 | 45.24 | 25.04 | 43.21 | 63.85 | 27.43 | 39.83 | 55.79 | 62.87 | 22.34 | 23.36 | 21.59 | 17.42 | 35.30 | 25.86 |
-α4.2/αα | 12.64 | 6.30 | 14.18 | 13.08 | 19.05 | 16.70 | 16.90 | 10.33 | 19.47 | 14.94 | 7.89 | 7.19 | 17.55 | 13.52 | 10.23 | 18.71 | 13.12 | 13.08 |
-α3.7/αα | 14.32 | 11.81 | 19.86 | 11.54 | 10.71 | 13.63 | 9.70 | 6.57 | 19.47 | 10.37 | 12.11 | 13.17 | 19.68 | 12.70 | 22.16 | 20.00 | 9.24 | 17.13 |
-αWS/αα | 5.17 | 6.30 | 12.06 | 6.92 | 8.33 | 5.79 | 5.82 | 6.57 | 7.08 | 11.20 | 4.21 | 4.19 | 3.19 | 13.52 | 10.80 | 6.45 | 6.65 | 5.92 |
-α3.7/-α4.2 | 2.05 | 2.36 | 6.38 | 0.77 | — | 7.50 | 4.16 | 0.94 | 4.87 | 1.24 | 1.05 | 4.79 | 9.04 | 4.10 | 9.09 | 10.97 | 4.62 | 9.66 |
-α3.7/––SEA | 1.56 | 1.57 | 0.71 | 0.77 | 4.76 | 4.43 | 3.88 | 3.76 | 1.77 | 1.66 | 0.53 | 3.59 | 1.06 | 4.10 | 1.70 | 3.23 | 4.25 | 4.36 |
-α3.7/-αWS | 0.48 | 3.94 | 6.38 | 1.54 | — | 2.04 | 1.39 | 0.94 | 3.54 | 3.32 | 1.05 | 0.60 | 6.38 | 6.97 | 2.84 | 0.65 | 3.70 | 4.05 |
-α3.7/-α3.7 | 0.84 | 0.79 | 2.13 | 0.77 | 2.38 | 4.26 | 1.11 | 0.94 | 3.54 | 1.66 | 1.58 | 0.60 | 6.38 | 3.28 | 5.68 | 6.45 | 3.51 | 1.56 |
-α4.2/-αWS | 0.60 | 0.79 | 5.67 | — | 2.38 | 4.60 | 0.28 | 0.47 | 3.10 | 2.49 | 1.05 | 0.60 | 2.66 | 1.64 | 7.95 | 3.87 | 2.77 | 3.74 |
-α4.2/––SEA | 0.84 | — | 1.42 | 2.31 | — | 3.41 | 4.43 | — | 2.65 | 2.90 | 4.74 | — | 2.13 | 2.46 | 0.57 | 2.58 | 3.70 | 3.43 |
-αQS/αα | 2.53 | 0.79 | 2.84 | 3.08 | 2.38 | 1.87 | 4.43 | 1.41 | — | 3.73 | 2.63 | 1.80 | 1.06 | 2.87 | 1.70 | 1.29 | 1.48 | 3.43 |
-α4.2/-α4.2 | 0.96 | 0.79 | — | 3.08 | 1.19 | 4.77 | 1.66 | 1.88 | 2.21 | 0.41 | 0.53 | — | 2.66 | 0.82 | 3.41 | 3.23 | 4.07 | 2.18 |
-αWS/––SEA | 0.12 | — | 0.71 | 0.77 | 2.38 | 1.02 | 1.11 | 0.94 | 0.88 | 1.66 | 1.58 | 0.60 | 1.06 | 3.28 | 1.14 | 2.58 | 2.59 | 0.93 |
-α3.7/-αQS | — | — | 0.71 | 0.77 | 1.19 | 1.87 | 0.28 | — | 0.44 | 0.83 | 1.05 | — | 2.66 | 2.87 | — | 0.65 | 1.48 | 1.56 |
-α4.2/-αQS | 0.24 | — | 4.96 | 0.77 | — | 1.19 | 0.83 | 0.47 | — | 1.66 | 1.58 | — | — | 0.82 | 0.57 | — | 1.11 | 1.25 |
-αWS/-αWS | 0.36 | — | 2.84 | — | — | 0.17 | 0.55 | — | 2.21 | 1.24 | 0.53 | — | 2.13 | 0.82 | — | 0.65 | 1.11 | — |
-αCS/αα | 1.44 | — | — | — | — | 0.51 | 0.28 | — | 0.44 | 0.41 | 1.58 | — | — | 0.82 | — | — | 0.74 | — |
–αQS/-αWS | 0.12 | — | 0.71 | — | — | 1.19 | — | — | 0.88 | — | — | — | — | 1.23 | 0.57 | — | 0.18 | 1.25 |
-αQS/––SEA | 0.12 | — | — | — | — | — | — | 0.94 | — | — | — | — | — | 0.41 | — | 1.29 | 0.37 | — |
-αQS/-αQS | — | — | — | — | — | — | — | — | — | — | — | — | — | 0.41 | — | — | — | 0.31 |
-αCS/-αWS | — | — | — | — | — | — | — | — | — | 0.41 | — | — | — | — | — | — | — | — |
-α4.2/-αCS | — | — | 0.71 | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — |
-αCS/––SEA | — | — | — | — | — | — | — | — | — | — | 0.53 | — | — | — | — | — | — | — |
-α3.7/-αCS | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | 0.31 |
Total | 831 | 127 | 141 | 130 | 84 | 587 | 361 | 213 | 226 | 241 | 190 | 167 | 188 | 244 | 176 | 155 | 541 | 321 |
Table 4
Distribution of -thalassemia mutations in Hainan province
β |
Genotype | Haikou | Wenchang | Wuzhishan | Lingao | Ding’an | Sanya | Danzhou | Qionghai | Dongfang | Wanning | Tunchang | Chengmai | Changjiang | Qiongzhong | Baisha | Baoting | Lingshui | Ledong |
Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) | Ratio (%) |
CD41/42 | 74.00 | 67.80 | 96.30 | 65.85 | 66.67 | 89.93 | 76.81 | 68.69 | 89.29 | 86.08 | 74.65 | 57.14 | 89.39 | 87.22 | 92.50 | 97.20 | 86.11 | 88.51 |
-28 | 13.60 | 6.78 | 2.78 | 24.39 | 23.81 | 2.24 | 10.14 | 15.15 | 6.55 | 5.06 | 16.90 | 21.43 | 1.52 | 4.51 | 0.83 | — | 2.22 | 1.35 |
IVS-II-654 | 4.00 | 10.17 | — | 2.44 | 4.76 | 2.24 | 5.07 | 1.01 | 0.60 | 2.53 | — | 8.33 | 3.79 | — | 2.50 | 1.87 | 3.89 | 2.03 |
CD17 | 4.00 | 1.69 | — | 4.88 | 4.76 | 1.49 | 1.45 | 8.08 | 1.19 | 1.27 | 2.82 | 3.57 | — | 3.76 | 0.83 | — | 1.11 | 4.05 |
CD71/72 | 2.00 | 3.39 | 0.93 | 2.44 | — | 1.12 | 4.35 | 2.02 | 1.19 | 2.53 | 2.82 | 2.38 | 1.52 | 3.76 | 2.50 | — | 1.67 | 0.68 |
CD26 | 2.00 | 8.47 | — | — | — | 0.75 | — | 2.02 | — | 1.27 | 1.41 | 2.38 | — | — | 0.83 | — | 3.33 | — |
-50 | — | — | — | — | — | 0.37 | 0.72 | — | 1.19 | — | 1.41 | 2.38 | 3.79 | — | — | 0.93 | 0.56 | 1.35 |
-29 | 0.40 | — | — | — | — | 0.75 | — | 1.01 | — | — | — | — | — | — | — | — | 0.56 | 2.03 |
Int | — | 1.69 | — | — | — | — | — | 1.01 | — | — | — | 2.38 | — | — | — | — | — | — |
IVS-I-1 | — | — | — | — | — | — | — | 1.01 | — | 1.27 | — | — | — | 0.75 | — | — | — | — |
CD43 | — | — | — | — | — | 0.75 | 0.72 | — | — | — | — | — | — | — | — | — | — | — |
CD27/28 | — | — | — | — | — | 0.37 | — | — | — | — | — | — | — | — | — | — | — | — |
Cap | — | — | — | — | — | — | 0.72 | — | — | — | — | — | — | — | — | — | — | — |
CD14/15 | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | 0.56 | — |
Total | 250 | 59 | 108 | 41 | 42 | 268 | 138 | 99 | 168 | 79 | 71 | 84 | 132 | 133 | 120 | 107 | 180 | 148 |
Spectrum of α- and β-thalassemia mutations identified in Li and Han people of Hainan Province
Apart from geographical factors, ethnic difference also plays an important role in gene diversity. Since Hainan Province is a place whose population is mainly composed of Han and other minority groups, which generates diverse genotypes. We then analyzed the frequency and spectrum of α- and β- thalassemia mutations of the Han people in Hainan Province and compared these findings with the minority. A total of 4,914 cases were screened. As is shown in Table 5, twenty-four α-globin genotypes were found in 4,597 cases of α-thalassemia, with —SEA/αα, -α4.2/αα and -α3.7/αα being the three most frequent α-thalassemia types among the Han and Li people, accounting for 57.50%, 12.37% and 11.26% in Han people and 13.43%, 16.43%, 16.76% in Li people, respectively. SEA/αα and -α3.7/αα are the two most frequent in Miao and Zhuang people, accounting for 62.75% and 13.73% in Miao and 55.88% and 14.71% in Zhuang people.
Surprisingly, CD41/42 was the dominant mutation of β- thalassemia among the Han, Li, Miao, Zhuang people, accounting for 70.03%, 94.84%, 83.64%, and 56.25%, respectively. (Table 6).
Fifty-eight types of compound gene mutations were detected (Table S2, Supplementary Information). The specific phenotypes and frequency are shown in Table 6. The three most frequent types in Han people were -α3.7/αα, -α4.2/αα and -αWS, all of which were accompanied by CD41/42, accounting for 19.48%, 16.29% and 16.86% respectively. The three most frequent types in Li people were -α3.7/αα, -α4.2/αα and —SEA/αα, all of which were accompanied by CD41/42, accounting for 21.45%, 21.29% and 11.28%, respectively. On the contrary, the patients who carried compound gene mutations in Miao and Zhuang were less than 1% of the total subjects.
Table 5
Spectrum of -thalassemia mutations of Han people and minority in Hainan Province
α |
| Han | | Li | | Miao | | Zhuang |
| N | Ratio (%) | | N | Ratio (%) | | N | Ratio (%) | | N | Ratio (%) |
––SEA/αα | 1557 | 57.50 | | 278 | 13.43 | | 64 | 62.75 | | 19 | 55.88 |
–α4.2/αα | 335 | 12.37 | | 340 | 16.43 | | 4 | 3.92 | | 1 | 2.94 |
–α3.7/αα | 305 | 11.26 | | 347 | 16.76 | | 14 | 13.73 | | 5 | 14.71 |
–αWS/αα | 149 | 5.50 | | 177 | 8.55 | | 5 | 4.90 | | 2 | 5.88 |
–α3.7/-α4.2 | 42 | 1.55 | | 184 | 8.89 | | 3 | 2.94 | | 1 | 2.94 |
–α3.7/––SEA | 62 | 2.29 | | 73 | 3.53 | | 5 | 4.90 | | 1 | 2.94 |
–α3.7/-αWS | 22 | 0.81 | | 104 | 5.02 | | — | — | | — | — |
–α3.7/-α3.7 | 18 | 0.66 | | 106 | 5.12 | | — | — | | 1 | 2.94 |
–α4.2/-αWS | 11 | 0.41 | | 106 | 5.12 | | — | — | | — | — |
–α4.2/––SEA | 56 | 2.07 | | 56 | 2.71 | | 3 | 2.94 | | 1 | 2.94 |
–αQS/αα | 65 | 2.40 | | 46 | 2.22 | | — | — | | 1 | 2.94 |
–α4.2/-α4.2 | 20 | 0.74 | | 86 | 4.15 | | — | — | | — | — |
–αWS/––SEA | 18 | 0.66 | | 39 | 1.88 | | 3 | 2.94 | | — | — |
–α3.7/-αQS | 4 | 0.15 | | 42 | 2.03 | | — | — | | — | — |
–α4.2/-αQS | 10 | 0.37 | | 31 | 1.50 | | — | — | | — | — |
–αWS/-αWS | 9 | 0.33 | | 23 | 1.11 | | — | — | | — | — |
–αCS/αα | 19 | 0.70 | | 4 | 0.19 | | 1 | 0.98 | | 2 | 5.88 |
–αQS/-αWS | 2 | 0.07 | | 18 | 0.87 | | — | — | | — | — |
–αQS/––SEA | 3 | 0.11 | | 5 | 0.24 | | — | — | | — | — |
–αQS/-αQS | — | — | | 2 | 0.10 | | — | — | | — | — |
–αCS/––SEA | 1 | 0.04 | | — | — | | — | — | | — | — |
–αCS/-αWS | — | — | | 1 | 0.05 | | — | — | | — | — |
–α4.2/-αCS | — | — | | 1 | 0.05 | | — | — | | — | — |
–α3.7/-αCS | — | — | | 1 | 0.05 | | — | — | | — | — |
Total | 2708 | | | 2070 | | | 102 | | | 34 | |
Table 6
Spectrum of -thalassemia mutations of Han people and minority in Hainan Province
β |
Genotype | Han | | Li | | Miao | | Zhuang |
N | Ratio (%) | | N | Ratio (%) | | N | Ratio (%) | | N | Ratio (%) |
CD41/42 | 694 | 70.03 | | 1103 | 94.84 | | 46 | 83.64 | | 9 | 56.25 |
-28 | 135 | 13.62 | | 20 | 1.72 | | — | — | | 1 | 6.25 |
IVS-II-654 | 55 | 5.55 | | 6 | 0.52 | | 1 | 1.82 | | — | — |
CD17 | 33 | 3.15 | | 7 | 0.60 | | 5 | 9.09 | | 5 | 31.25 |
CD71/72 | 32 | 3.23 | | 9 | 0.77 | | 1 | 1.82 | | — | — |
CD26 | 17 | 1.72 | | 7 | 0.60 | | — | — | | 1 | 6.25 |
-50 | 7 | 0.71 | | 9 | 0.77 | | — | — | | — | — |
-29 | 7 | 0.71 | | 1 | 0.09 | | — | — | | — | — |
Int | 4 | 0.40 | | — | — | | — | — | | — | — |
IVS-I-1 | 1 | 0.10 | | — | — | | 2 | 3.64 | | — | — |
CD43 | 3 | 0.30 | | — | — | | — | — | | — | — |
CD14/15 | 1 | 0.10 | | — | — | | — | — | | — | — |
IVS-II-654//IVS-II-654 | 1 | 0.10 | | — | — | | — | — | | — | — |
Cap | — | — | | 1 | 0.09 | | — | — | | — | — |
CD27/28 | 1 | 0.10 | | — | — | | — | — | | — | — |
Total | 991 | | | 1163 | | | 55 | | | 16 | |
Prenatal Diagnosis
The frequencies of thalassemia genotypes obtained from 3,049 prenatal diagnosis in Hainan Province are shown in Table 7. Among these 3,049 cases of α-thalassemia, 3.87% of the fetus were α-thalassemia hydrops, 70.58% were α-thalassemia carriers,5.28% were β-thalassemia major, 26.76% were β-thalassemia carriers, and 18.24% were normal. The spectrum of α-thalassemia genotypes among pregnant women, their husbands and fetuses in Hainan Province are shown in Table 8. The most frequent genotype was —SEA/αα, accounting for 21.28% of total fetuses, and is followed, in order of frequency, by the mutations -α4.2/αα and -α3.7/αα, accounting for 15.45% and 14.89%, respectively. The top three α-globin gene mutations in the fetuses were the same to those observed in the pregnant women and husbands.
For the β-thalassemia mutations, the most frequent genotype was CD41-42 (42.84%), followed by CD41/42/CD41-42, -28, CD71/72 and − 28/CD41/42, accounting for 15.53%, 5.01%, 3.42% and 2.93%, respectively. In the pregnant women and husbands, the most common mutation was CD41/42, followed by IVS-II-65, CD17 and − 28 in parents (Table 9).
A total of 485 genotypes were both α and β-thalassemia carriers. The top three frequent types were -α3.7/αα (17.53%), -α4.2/αα (16.91%) and -αWS/αα (8.87%), all of which were accompanied by CD41/42. The top three α- and β-combination globin gene mutations in the fetuses were the same to those observed in the pregnant women and husbands (Table S3, Supplementary Information).
Table 7
Genotypes of thalassemia identified by prenatal diagnosis in Hainan Province
Variable | One of parent was carrier | | Both parents were carriers | | Both parents were normal | | Total | Ratio (%) |
N | Ratio (%) | | N | Ratio (%) | | N | Ratio (%) | |
α-thalassemia hydrops | 2 | 0.81 | | 116 | 4.16 | | — | — | | 118 | 3.87 |
α-thalassemia carrier | 110 | 44.53 | | 2042 | 73.22 | | — | — | | 2152 | 70.58 |
β-thalassemia major | 1 | 0.40 | | 160 | 5.74 | | — | — | | 161 | 5.28 |
β-thalassemia carrier | 39 | 15.79 | | 781 | 28.00 | | — | — | | 816 | 26.76 |
α + β-thalassemia carrier | 9 | 3.64 | | 476 | 17.07 | | — | — | | 485 | 15.91 |
Normal | 98 | 39.68 | | 445 | 15.96 | | 13 | 100 | | 556 | 18.24 |
Total | 247 | | | 2789 | | | 13 | | | 3049 | |
Table 8
Spectrum of -thalassemia genotypes among pregnant women, their husbands and fetuses in Hainan Province
α |
Genotype | pregnant women | | Husbands | | fetus |
N | Ratio (%) | | N | Ratio (%) | | N | Ratio (%) |
––SEA/αα | 946 | 37.27 | | 977 | 32.15 | | 460 | 21.28 |
-α4.2/αα | 367 | 14.46 | | 313 | 10.30 | | 334 | 15.45 |
-α3.7/αα | 360 | 14.18 | | 312 | 10.27 | | 322 | 14.89 |
-αWS/αα | 166 | 6.54 | | 168 | 5.53 | | 160 | 7.40 |
-α3.7/-α4.2 | 130 | 5.12 | | 101 | 3.32 | | 76 | 3.52 |
-α3.7/-αWS | 75 | 2.96 | | 51 | 1.68 | | 42 | 1.94 |
-α3.7/––SEA | 72 | 2.84 | | 69 | 2.27 | | 139 | 6.43 |
-α3.7/-α3.7 | 68 | 2.68 | | 57 | 1.88 | | 52 | 2.41 |
-α4.2/––SEA | 66 | 2.60 | | 50 | 1.65 | | 162 | 7.49 |
-α4.2/-αWS | 66 | 2.60 | | 51 | 1.68 | | 39 | 1.80 |
-αQS/αα | 53 | 2.09 | | 59 | 1.94 | | 39 | 1.80 |
-α4.2/-α4.2 | 46 | 1.81 | | 60 | 1.97 | | 45 | 2.08 |
-α3.7/-αQS | 28 | 1.10 | | 18 | 0.59 | | 23 | 1.06 |
-αWS/––SEA | 25 | 0.99 | | 35 | 1.15 | | 63 | 2.91 |
-α4.2/-αQS | 21 | 0.83 | | 20 | 0.66 | | 17 | 0.79 |
-αCS/αα | 19 | 0.75 | | 8 | 0.26 | | 8 | 0.37 |
-αWS/-αWS | 11 | 0.43 | | 21 | 0.69 | | 18 | 0.83 |
-αQS/-αWS | 11 | 0.43 | | 9 | 0.30 | | 17 | 0.79 |
-αQS/––SEA | 3 | 0.12 | | 5 | 0.16 | | 15 | 0.69 |
-αCS/––SEA | 1 | 0.04 | | — | — | | 8 | 0.37 |
-αQS/-αQS | 1 | 0.04 | | 1 | 0.03 | | 1 | 0.05 |
-α3.7/-αCS | 1 | 0.04 | | — | — | | 1 | 0.05 |
-α4.2/-αCS | 1 | 0.04 | | — | — | | 1 | 0.05 |
-αCS/-αWS | 1 | 0.04 | | — | — | | 1 | 0.05 |
––SEA/––SEA | — | — | | — | — | | 119 | 5.50 |
Total | 2538 | | | 3039 | | | 2162 | |
Table 9
Spectrum of -thalassemia genotypes among pregnant women, their husbands and fetuses in Hainan Province
β |
Genotypes | pregnant women | | Husbands | | Fetus |
N | Ratio (%) | | N | Ratio (%) | | N | Ratio (%) |
CD41/42 | 976 | 85.54 | | 876 | 80.81 | | 551 | 67.36 |
IVS-II-654 | 29 | 2.54 | | 34 | 3.14 | | 1 | 0.12 |
CD17 | 23 | 2.02 | | 28 | 2.58 | | 6 | 0.73 |
CD26 | 13 | 1.14 | | 12 | 1.11 | | 6 | 0.73 |
-50 | 6 | 0.53 | | 10 | 0.92 | | — | — |
-29 | 5 | 0.44 | | 3 | 0.28 | | 1 | 0.12 |
IVS-I-1 | 2 | 0.18 | | 1 | 0.09 | | 3 | 0.37 |
CD27/28 | 1 | 0.09 | | — | — | | 1 | 0.12 |
CD14/15 | 1 | 0.09 | | — | — | | 1 | 0.12 |
CD41/42/CD41/42 | — | — | | — | — | | 127 | 15.53 |
-28 | — | — | | 71 | 6.55 | | 41 | 5.01 |
CD71/72 | — | — | | 41 | 3.78 | | 28 | 3.42 |
-28/CD41/42 | — | — | | — | — | | 24 | 2.93 |
CD41/42/IVS-II-654 | — | — | | — | — | | 5 | 0.61 |
CD41/42/-50 | — | — | | — | — | | 4 | 0.49 |
-28/IVS-II-654 | — | — | | — | — | | 4 | 0.49 |
-28/-28 | — | — | | — | — | | 4 | 0.49 |
CD17CD41/42 | — | — | | — | — | | 4 | 0.49 |
IVS-II-654/IVS-II-654 | — | — | | 1 | 0.09 | | 1 | 0.12 |
CD26/CD26 | — | — | | — | — | | 1 | 0.12 |
CD41/42/CD26 | — | — | | — | — | | 1 | 0.12 |
CD43 | — | — | | 3 | 0.28 | | 2 | 0.24 |
Int | — | — | | 4 | 0.37 | | 1 | 0.12 |
Cap | — | — | | 1 | 0.09 | | 1 | 0.12 |
Total | 1141 | | | 1084 | | | 818 | |