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

From: High prevalence of thalassemia in migrant populations in Guangdong Province, China

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, β41–42N0, β0N) 34 0.12 (0.08,0.16) --SEA3.7, β41–42N (HbH, β0N) 1 0.00 (0.00,0.01)
α3.7α/αα 911 3.20 (3.00, 3.40) β41–42N0N) 415 1.46 (1.32, 1.60) --SEA/αα, β654N0, β0N) 25 0.09 (0.05,0.12) --SEA/αα, β-28IVS-10, β+0) 1 0.00 (0.00,0.01)
α4.2α/αα 313 1.10 (0.98, 1.22) β654N0N) 281 0.99 (0.87, 1.10) α3.7/αα, β41–42N+, β0N) 20 0.07 (0.04,0.10) --SEA/αα, β-29N0, β+N) 1 0.00 (0.00,0.01)
αWSα/αα 239 0.84 (0.73, 0.94) β17N0N) 95 0.33 (0.27, 0.40) α3.7/αα, β-28N+, β+N) 11 0.04 (0.02,0.06) --SEA/αα, βIVS-5N
0, β+N)
1 0.00 (0.00,0.01)
αCSα/αα 83 0.29 (0.23, 0.35) β71–72N0N) 24 0.08 (0.05, 0.12) --SEA/αα, β-28N0, β+N) 9 0.03 (0.01,0.05) α3.7CSα, β41–42N
0, β0N)
1 0.00 (0.00,0.01)
αQSα/αα 47 0.17 (0.12, 0.21) β27–28N0N) 19 0.07 (0.04, 0.10) α3.7/αα, β654N+, β0N) 8 0.03 (0.01,0.05) α3.7/αα, β-29N
+, β+N)
1 0.00 (0.00,0.01)
α3.7α/α4.2α 9 0.03 (0.01, 0.05) β14–15N0N) 10 0.04 (0.01, 0.06) αWSα/αα, β41–42N+, β0N) 7 0.02 (0.01,0.04) α3.7/αα, βIVS-1N
+, β0N)
1 0.00 (0.00,0.01)
α3.7α/α3.7α 8 0.03 (0.01, 0.05) β43N0N) 6 0.02 (0.00, 0.04) α4.2/αα, β41–42N+, β0N) 6 0.02 (0.00,0.04) αCSα/αα, β17N+, β0N) 2 0.01 (0.00,0.02)
α3.7α/αWSα 5 0.02 (0.00, 0.03) βIVS-1N0N) 6 0.02 (0.00, 0.04) --SEA/αα, β17N0, β0N) 4 0.01 (0.00,0.03) αCSα/αα, β654N+, β0N) 2 0.01 (0.00,0.02)
α3.7α/αCSα 3 0.01 (0.00, 0.02) βIntN0N) 1 0.00 (0.00, 0.01) --SEA/αα, βEN0, β+N) 4 0.01 (0.00,0.03) α3.7/αα, βIVS-5N+, β+N) 1 0.00 (0.00,0.01)
α3.7α/αQSα 3 0.01 (0.00, 0.02) β-28N+N) 155 0.54 (0.46, 0.63) α3.7/αα, β17N+, β0N) 4 0.01 (0.00,0.03) α4.2/αα, β71–72N
+, β0N)
1 0.00
(0.00,0.01)
α4.2α/αWSα 3 0.01 (0.00, 0.02) βE/ βN+N) 24 0.08 (0.05, 0.12) α4.2/αα, β-28N+, β+N) 4 0.01 (0.00,0.03) α4.2/αα, βCapN
+, β+N)
1 0.00
(0.00,0.01)
α4.2α/αCSα 1 0.00 (0.00, 0.01) βCapN+N) 23 0.08 (0.05, 0.11) αCSα/αα, β41–42N+, β0N) 4 0.01 (0.00,0.03) αCSα/αα, β-28N
+, β+N)
1 0.00
(0.00,0.01)
α4.2α/αQSα 1 0.00 (0.00, 0.01) β-29N+N) 17 0.06 (0.03, 0.09) α3.7/αα, β71–72N+, β0N) 3 0.01 (0.00,0.02) αWSα/αα, β71–72N
+, β0N)
1 0.00
(0.00,0.01)
α0-thalassemia 1743 6.12 (5.84, 6.40) βIVS-5N+N) 1 0.00 (0.00, 0.01) α4.2/αα, β17N+, β0N) 3 0.01 (0.00,0.02) αWSα/αα, βEN
+, 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) α4.2/αα, β654/βN+, β0N) 3 0.01 (0.00,0.02) αWSα/αα, βIVS-1N+, β0N) 1 0.00 (0.00,0.01)
HbH disease 58 0.20 (0.15, 0.26) β-28E++) 1 0.00 (0.00, 0.01) --SEA3.7, β654N (HbH, β0N) 2 0.01 (0.00,0.02)    
--SEA3.7 33 0.12 (0.08, 0.16) β41–42Cap0+) 1 0.00 (0.00, 0.01) --SEACSα, β41–42N (HbH, β0N) 2 0.01 (0.00,0.02)    
--SEA4.2 15 0.05 (0.03, 0.08) β41–42E0+) 1 0.00 (0.00, 0.01) --SEA/αα, β71–72N0, β0N) 2 0.01 (0.00,0.02)    
--SEAWSα 5 0.02 (0.00, 0.03) β-2817+0) 1 0.00 (0.00, 0.01) α4.2/αα, βEN+, β+N) 2 0.01 (0.00,0.02)    
--SEACSα 3 0.01 (0.00, 0.02)     αWSα/αα, β654N+, β0N) 2 0.01 (0.00,0.02)    
--SEAQSα 2 0.01 (0.00, 0.02)     --SEA3.7, β17N (HbH, β0N) 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)
  1. Notes: 1. CI is Confidence Interval. 2. Hb H disease means Hemoglobin H (HbH) disease. 3. βN means normal β-globin allele gene.