Table 2 The prevalence (%) of different genotypes of thalassemia among pregnant coupes of Guangdong, China (n = 28479)

α⁺-thalassemia

1626

5.71% (5.44, 5.98)

β-thalassemia minor

1077

3.78 (3.56, 4.00)

--^SEA/αα, β^41–42/β^N (α⁰, β⁰/β^N)

34

0.12 (0.08,0.16)

--^SEA/α^3.7, β^41–42/β^N (HbH, β⁰/β^N)

1

0.00 (0.00,0.01)

α^3.7α/αα

911

3.20 (3.00, 3.40)

β^41–42/β^N (β⁰/β^N)

415

1.46 (1.32, 1.60)

--^SEA/αα, β⁶⁵⁴/β^N (α⁰, β⁰/β^N)

25

0.09 (0.05,0.12)

--^SEA/αα, β^-28/β^IVS-1 (α⁰, β⁺/β⁰)

1

0.00 (0.00,0.01)

α^4.2α/αα

313

1.10 (0.98, 1.22)

β⁶⁵⁴/β^N (β⁰/β^N)

281

0.99 (0.87, 1.10)

α^3.7/αα, β^41–42/β^N (α⁺, β⁰/β^N)

20

0.07 (0.04,0.10)

--^SEA/αα, β^-29/β^N (α⁰, β⁺/β^N)

1

0.00 (0.00,0.01)

α^WSα/αα

239

0.84 (0.73, 0.94)

β¹⁷/β^N (β⁰/β^N)

95

0.33 (0.27, 0.40)

α^3.7/αα, β^-28/β^N (α⁺, β⁺/β^N)

11

0.04 (0.02,0.06)

--^SEA/αα, β^IVS-5/β^N

(α⁰, β⁺/β^N)

1

0.00 (0.00,0.01)

α^CSα/αα

83

0.29 (0.23, 0.35)

β^71–72/β^N (β⁰/β^N)

24

0.08 (0.05, 0.12)

--^SEA/αα, β^-28/β^N (α⁰, β⁺/β^N)

9

0.03 (0.01,0.05)

α^3.7/α^CSα, β^41–42/β^N

(α⁰, β⁰/β^N)

1

0.00 (0.00,0.01)

α^QSα/αα

47

0.17 (0.12, 0.21)

β^27–28/β^N (β⁰/β^N)

19

0.07 (0.04, 0.10)

α^3.7/αα, β⁶⁵⁴/β^N (α⁺, β⁰/β^N)

8

0.03 (0.01,0.05)

α^3.7/αα, β^-29/β^N

(α⁺, β⁺/β^N)

1

0.00 (0.00,0.01)

α^3.7α/α^4.2α

9

0.03 (0.01, 0.05)

β^14–15/β^N (β⁰/β^N)

10

0.04 (0.01, 0.06)

α^WSα/αα, β^41–42/β^N (α⁺, β⁰/β^N)

7

0.02 (0.01,0.04)

α^3.7/αα, β^IVS-1/β^N

(α⁺, β⁰/β^N)

1

0.00 (0.00,0.01)

α^3.7α/α^3.7α

8

0.03 (0.01, 0.05)

β⁴³/β^N (β⁰/β^N)

6

0.02 (0.00, 0.04)

α^4.2/αα, β^41–42/β^N (α⁺, β⁰/β^N)

6

0.02 (0.00,0.04)

α^CSα/αα, β¹⁷/β^N (α⁺, β⁰/β^N)

2

0.01 (0.00,0.02)

α^3.7α/α^WSα

5

0.02 (0.00, 0.03)

β^IVS-1/β^N (β⁰/β^N)

6

0.02 (0.00, 0.04)

--^SEA/αα, β¹⁷/β^N (α⁰, β⁰/β^N)

4

0.01 (0.00,0.03)

α^CSα/αα, β⁶⁵⁴/β^N (α⁺, β⁰/β^N)

2

0.01 (0.00,0.02)

α^3.7α/α^CSα

3

0.01 (0.00, 0.02)

β^Int/β^N (β⁰/β^N)

1

0.00 (0.00, 0.01)

--^SEA/αα, β^E/β^N (α⁰, β⁺/β^N)

4

0.01 (0.00,0.03)

α^3.7/αα, β^IVS-5/β^N (α⁺, β⁺/β^N)

1

0.00 (0.00,0.01)

α^3.7α/α^QSα

3

0.01 (0.00, 0.02)

β^-28/β^N (β⁺/β^N)

155

0.54 (0.46, 0.63)

α^3.7/αα, β¹⁷/β^N (α⁺, β⁰/β^N)

4

0.01 (0.00,0.03)

α^4.2/αα, β^71–72/β^N

(α⁺, β⁰/β^N)

1

0.00

(0.00,0.01)

α^4.2α/α^WSα

3

0.01 (0.00, 0.02)

β^E/ β^N (β⁺/β^N)

24

0.08 (0.05, 0.12)

α^4.2/αα, β^-28/β^N (α⁺, β⁺/β^N)

4

0.01 (0.00,0.03)

α^4.2/αα, β^Cap/β^N

(α⁺, β⁺/β^N)

1

0.00

(0.00,0.01)

α^4.2α/α^CSα

1

0.00 (0.00, 0.01)

β^Cap/β^N (β⁺/β^N)

23

0.08 (0.05, 0.11)

α^CSα/αα, β^41–42/β^N (α⁺, β⁰/β^N)

4

0.01 (0.00,0.03)

α^CSα/αα, β^-28/β^N

(α⁺, β⁺/β^N)

1

0.00

(0.00,0.01)

α^4.2α/α^QSα

1

0.00 (0.00, 0.01)

β^-29/β^N (β⁺/β^N)

17

0.06 (0.03, 0.09)

α^3.7/αα, β^71–72/β^N (α⁺, β⁰/β^N)

3

0.01 (0.00,0.02)

α^WSα/αα, β^71–72/β^N

(α⁺, β⁰/β^N)

1

0.00

(0.00,0.01)

α⁰-thalassemia

1743

6.12 (5.84, 6.40)

β^IVS-5/β^N (β⁺/β^N)

1

0.00 (0.00, 0.01)

α^4.2/αα, β¹⁷/β^N (α⁺, β⁰/β^N)

3

0.01 (0.00,0.02)

α^WSα/αα, β^E/β^N

(α⁺, β⁺/β^N)

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)

α^4.2/αα, β654/β^N (α⁺, β⁰/β^N)

3

0.01 (0.00,0.02)

α^WSα/αα, β^IVS-1/β^N (α⁺, β⁰/β^N)

1

0.00 (0.00,0.01)

HbH disease

58

0.20 (0.15, 0.26)

β^-28/β^E (β⁺/β⁺)

1

0.00 (0.00, 0.01)

--^SEA/α^3.7, β⁶⁵⁴/β^N (HbH, β⁰/β^N)

2

0.01 (0.00,0.02)

--^SEA/α^3.7

33

0.12 (0.08, 0.16)

β^41–42/β^Cap (β⁰/β⁺)

1

0.00 (0.00, 0.01)

--^SEA/α^CSα, β^41–42/β^N (HbH, β⁰/β^N)

2

0.01 (0.00,0.02)

--^SEA/α^4.2

15

0.05 (0.03, 0.08)

β^41–42/β^E (β⁰/β⁺)

1

0.00 (0.00, 0.01)

--^SEA/αα, β^71–72/β^N (α⁰, β⁰/β^N)

2

0.01 (0.00,0.02)

--^SEA/α^WSα

5

0.02 (0.00, 0.03)

β^-28/β¹⁷ (β⁺/β⁰)

1

0.00 (0.00, 0.01)

α^4.2/αα, β^E/β^N (α⁺, β⁺/β^N)

2

0.01 (0.00,0.02)

--^SEA/α^CSα

3

0.01 (0.00, 0.02)

α^WSα/αα, β⁶⁵⁴/β^N (α⁺, β⁰/β^N)

2

0.01 (0.00,0.02)

--^SEA/α^QSα

2

0.01 (0.00, 0.02)

--^SEA/α^3.7, β¹⁷/β^N (HbH, β⁰/β^N)

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)