Supplementary
Supplemental Data include nine tables, three figures, a section about the false negative genotypes and anexplanation on cost-effectiveness analysis.
Table S1: Carrier rate and demographic data of 951 premarital individuals of Dai people
Type / Number / Dehong / Xishuangbanna / Ratio (%) / AgeAverage±StDev / Agerange
Normal / 480 / 341 / 139 / 50.5 / 25.2±4.1 / 19-41
All carriers / 471 / 339 / 132 / 49.5 / 25.0±4.0 / 19-40
α-thalassemia carrier / 290 / 201 / 89 / 30.5 / 25.1±4.1 / 19-40
β-thalassemia carrier / 99 / 72 / 27 / 10.4 / 25.1±4.0 / 20-40
Composite α- and β-thalassemia carrier / 82 / 66 / 16 / 8.6 / 24.5±3.7 / 19-36
Total / 951 / 680 / 271 / N/A / 25.1±4.0 / 19-41
Male / 295 / 257 / 38 / 31.0 / 26.1±4.0 / 20-40
Female / 656 / 423 / 233 / 69.0 / 24.7±4.0 / 19-41
Table S2:Genotypes and ranksof 79 carriers of composite α- & β-thalassemia mutations
HBA mutation / HBB mutation / N / Dehong / Xishuangbanna / Subtotal / Carrier rate (%) / MCV(fL)Average±StDev / MCH(pg)
Average±StDev / HbA2(%)
Average±StDev / HbF(%)
Average±StDev
-α3.7/αα / Codon 26/Codon 26 / 2 / 2 / - / 51 / 5.4 / 57.2±2.9 / 19.5±0.4 / 48.6±63.8 / -
Codon 26/βA / 32 / 31 / 1 / 79.8±5.9 / 26.4±1.9 / 21.7±5.5 / 1.8±1.0
-50 G>A/βA / 2 / 1 / 1 / 87.5±0.6 / 22.8±5.7 / 3.1±0.1 / -
Codon 17/βA / 4 / 1 / 3 / 65.0±3.2 / 20.6±0.9 / 5.5±0.5 / -
Codons 41-42/βA / 6 / 5 / 1 / 65.2±3.9 / 21.2±1.1 / 5.4±1.4 / -
Codon 41 (-C)/βA / 1 / 1 / - / 62.0 / 21.5 / 6.41 / -
Codons 71-72/βA / 1 / 1 / - / 61.8 / 20.7 / 6.66 / -
HbDhonburi/βA / 2 / 2 / - / 80.4±4.8 / 26.0±1.9 / 5.0±0.3 / -
c.316-238C>T/βA / 1 / 1 / - / 79.0 / 26.9 / 2.9 / -
--SEA/αα / Codon 26/βA / 4 / 2 / 2 / 7 / 0.7 / 61.0±9.1 / 19.4±2.6 / 13.0±7.0 / -
Codons 41-42/βA / 1 / 1 / - / 70.0 / 22.3 / 5.59 / -
Hb Hope/βA / 1 / - / 1 / 74.4 / 21.4 / 2.25
-28 (A->G)/βA / 1 / 1 / - / 83.9 / 25.1 / 7.61 / 1.6
αCSα/αα / Codon 26/βA / 4 / 4 / - / 7 / 0.7 / 78.2±3.1 / 23.9±6.7 / 23.0±3.3 / -
Codons 41-42/βA / 2 / 1 / 1 / 62.0(DH) / 20.8(DH) / 4.7(DH) / -
Codon 17/βA / 1 / - / 1 / 68.5 / 20.1 / 6.04 / -
αWSα/αα / Codon 26/βA / 2 / 1 / 1 / 4 / 0.4 / 77.8±3.9 / 23.9±1.0 / 13.4±14.3 / -
Hb Hope/βA / 1 / 1 / - / 82.0 / 29.0 / 2.7 / -
-50 G>A/-50 G>A / 1 / - / 1 / 79.8 / 23.6 / 2.15 / 2.28
-α3.7/-α3.7 / Codon 26/βA / 1 / 1 / - / 3 / 0.3 / 64.0 / 21.9 / 19.71 / -
Codons 41-42/βA / 1 / 1 / - / 71.3 / 23.1 / 5.82 / 2.73
-28 (A->G)/βA / 1 / - / 1 / 62.1 / 19.3 / 11.38 / -
--SEA/-α3.7 / Codon 26/βA / 2 / 2 / - / 2 / 0.2 / 46.0±4.2 / 15.3±1.1 / 13.5±0.2 / -
-α3.7/αCSα / Codon 26/Codon 26 / 1 / 1 / - / 1 / 0.1 / 68.5 / 23.8 / 88.05 / 12.0
-α3.7/αQSα / Codons 41-42/βA / 1 / - / 1 / 1 / 0.1 / 63.8 / 19.8 / 4.38 / -
-α3.7/-α4.2 / Codon 26/βA / 1 / 1 / - / 1 / 0.1 / 64.0 / 22.8 / 16.48 / -
--SEA/HBA2: c.1delA / Codon 26/βA / 1 / 1 / - / 1 / 0.1 / 46.4 / 14.6 / - / -
--SEA/αWSα / Codon 26/βA / 1 / 1 / - / 1 / 0.1 / 80.0 / 28.1 / 14.53 / -
HbOwari/αα / Codon 17/βA / 1 / - / 1 / 1 / 0.1 / 65.5 / 20 / 4.81 / -
-α3.7/HBA1:c.95+1G>A / Codon 26/βA / 1 / 1 / - / 1 / 0.1 / 80.2 / 26.2 / 16.43 / 6.9
HBA1:c.95+1G/αα / Codon 26/βA / 1 / 1 / - / 1 / 0.1 / 82.7 / 26.9 / 22.54 / -
Total / - / 82 / 66 / 16 / 82 / 8.6 / 73.2±10.5 / 23.7±3.8 / 16.4±14.9 / 3.1±3.0
Table S3:Genotypes and constituent ratio of α-thalassemia carriers
Genotype / N / Dehong / Xishuangbanna / Constituentratio (%) / Carrier rate in Dai people (%) / MCV(fL)Average±StDev / MCH(pg)
Average±StDev / HbA2(%)
Average±StDev / HbF(%)
Average±StDev
-α3.7/αα / 129 / 111 / 18 / 44.5 / 13.7 / 81.0±5.6 / 26.3±1.9 / 3.0±0.4 / -(only one=4.99)
-α3.7/ αCSα / 1 / 1 / - / 0.3 / 0.1 / 79.6 / 23 / 5.19 / -
-α3.7/ αWSα / 2 / 2 / - / 0.7 / 0.2 / 85.9±14.0 / 28.2±5.9 / 3.4±0.6 / -
-α3.7/HBA1:c.95+1G>A / 3 / 3 / - / 1.0 / 0.3 / 71.5±4.8 / 23.2±1.4 / 3.0±0.6 / -
-α3.7/HbOwari / 1 / - / 1 / 0.3 / 0.1 / 86.0 / 26.2 / 2.47 / -
--SEA/-α3.7 / 8 / 7 / 1 / 2.8 / 0.8 / 56.3±8.9 / 17.0±2.0 / 1.9±0.8 / -
-α3.7/-α3.7 / 14 / 11 / 3 / 4.8 / 1.5 / 71.2±5.3 / 22.6±1.0 / 2.6±0.4 / -
-α3.7/-α4.2 / 1 / 1 / - / 0.3 / 0.1 / 77.6 / 25.9 / 3.29
--SEA/αα / 75 / 37 / 38 / 25.9 / 7.9 / 67.0±4.5 / 20.8±1.4 / 2.6±0.4 / 2.4±0.6
--SEA/ αWSα / 3 / 0 / 3 / 1.0 / 0.4 / 64.9±1.7 / 19.9±0.9 / 2.7±0.5 / -
--SEA/HBA2: c.1delA / 1 / 1 / - / 0.3 / 0.1 / 71.0 / 18.3 / 1.71 / -
--SEA/Hb Hekinan / 1 / - / 1 / 0.3 / 0.1 / 68.0 / 20.9 / 3.01 / -
-α4.2/αα / 11 / 4 / 7 / 3.8 / 1.2 / 85.0±5.6 / 27.0±1.9 / 3.0±0.3 / -
ααα/αα / 1 / - / 1 / 0.3 / 0.1 / 91.3 / 26.9 / 2.48 / -
αCSα/αα / 15 / 12 / 3 / 5.2 / 1.6 / 82.4±4.9 / 26.9±1.5 / 3.0±0.7 / -(only one=1.96)
αCSα/αCSα / 1 / 1 / - / 0.3 / 0.1 / 78.6 / 24.0 / 5.98 / -
αWSα/αα / 14 / 6 / 8 / 4.8 / 1.6 / 84.1±8.7 / 27.0±2.9 / 3.0±0.4 / -
HBA1: c.95+1G>A/αα / 2 / 2 / - / 0.7 / 0.2 / 82.2±6.6 / 27.0±1.2 / 3.0±0.3 / -
Hb Queens Park/αα / 1 / - / 1 / 0.3 / 0.1 / 82.2 / 25.4 / 3.01 / -
Hb Hekinan/αα / 3 / - / 3 / 1.0 / 0.3 / 89.7±3.9 / 28.0±0.9 / 2.5±0.1 / -
HbOwari/αα / 3 / 2 / 1 / 1.0 / 0.3 / 90.9±2.1 / 30.0±0.5 / 2.9±0.2 / -
Total / 290 / 201 / 89 / 100 / 30.6 / 76.5±9.5 / 24.5±3.4 / 2.8±0.5 / 2.8±1.2
Table S4:Genotypes and constituent ratio of β-thalassemia carriers
Genotype / N / Dehong / Xishuangbanna / Constituentratio (%) / Carrier rate in Dai people (%) / MCV(fL)Average±StDev / MCH(pg)
Average±StDev / HbA2(%)
Average±StDev / HbF(%)
Average±StDev
Codon 26/βA / 63 / 57 / 6 / 63.6 / 6.6 / 77.0±6.4 / 25.9±2.4 / 23.5±6.0 / 3.6±5.6
Codon 26/Codon 26 / 3 / 3 / - / 3.0 / 0.3 / 60.4±5.2 / 20.8±2.0 / 92.9±2.2 / -
Codons 41-42/βA / 11 / 4 / 7 / 11.1 / 1.2 / 65.3±9.3 / 20.4±3.7 / 5.4±1.1 / -(only one=3.24)
Codon17/βA / 13 / 4 / 9 / 13.1 / 1.4 / 63.0±4.1 / 19.5±0.7 / 5.6±1.4(one=2.96) / 1.9±0.1
HbDhonburi/βA / 3 / 3 / - / 3.0 / 0.3 / 79.6±0.2 / 25.6±1.3 / 3.7±0.4 / --(only one=1.53)
-28 A>G/βA / 2 / - / 2 / 2.0 / 0.2 / 72.5±7.0 / 22.7±1.5 / 5.4±0.1 / -
-50 G>A/βA / 1 / 1 / - / 1.0 / 0.1 / 90.7 / 29 / 2.66 / -
c.316-238C>T/βA / 1 / 1 / - / 1.0 / 0.1 / 95.7 / 29.1 / 3.93 / -
-50 G>A/Codons 71-72 / 1 / - / 1 / 1.0 / 0.1 / 63.1 / 19.4 / 2.16 / 5.5
IVS-I-1 (G>T)/βA / 1 / - / 1 / 1.0 / 0.1 / 93.5 / 29.8 / 4.88 / -
Total / 99 / 72 / 27 / 100 / 10.4 / 73.7±9.3 / 24.3±3.6 / 19.6±16.4 / 3.4±4.8
Table S5: Comparison of MCV between carrier genotypes and normal genotype
Genotype (Number) / MCV (fl) / t-value / P-valueαα/αα and βA/βA (480) / 88.6±7.6 / - / -
-α3.7/αα (129) / 81.0±5.6 / 10.6 / 0.000
-α4.2/αα (11) / 85.0±5.6 / 1.6 / 0.114
--SEA/αα (75) / 67.0±4.5 / 34.8 / 0.000
αCSα/αα (15) / 82.4±4.9 / 3.1 / 0.002
αCSα/αCSα (1) / 78.6 / - / -
αWSα/αα (14) / 84.1±8.7 / 2.2 / 0.028
Codon 26/βA(63) / 77.0±6.4 / 11.6 / 0.000
Codon 26/Codon 26 (3) / 60.4±5.2 / 6.4 / 0.000
-28/βA (2) / 72.5±7.0 / 3.0 / 0.003
-50/βA (1) / 90.7 / - / -
Codon17/βA (13) / 63.0±4.1 / 12.0 / 0.000
Codons 41-42/βA (11) / 65.3±9.3 / 10.0 / 0.000
HbDhonburi/βA (3) / 79.6±0.2 / 2.0 / 0.042
Table S6: Comparison of MCH between carrier genotypes and normal genotype
Genotype (Number) / MCH (pg) / t-value / P-valueαα/αα and βA/βA (480) / 29.5±4.4 / - / -
-α3.7/αα (129) / 26.3±1.9 / 7.9 / 0.000
-α4.2/αα (11) / 27.0±1.9 / 1.9 / 0.064
--SEA/αα (75) / 20.8±1.4 / 16.8 / 0.000
αCSα/αα (15) / 26.9±1.5 / 2.3 / 0.021
αCSα/αCSα (1) / 24.0 / - / -
αWSα/αα (14) / 27.0±2.9 / 2.1 / 0.033
Codon 26/βA(63) / 25.9±2.4 / 6.3 / 0.000
Codon 26/Codon 26 (3) / 20.8±2.0 / 3.4 / 0.001
-28/βA (2) / 22.7±1.5 / 2.2 / 0.030
-50/βA (1) / 29
Codon17/βA (13) / 19.5±0.7 / 8.1 / 0.000
Codons 41-42/βA (11) / 20.4±3.7 / 6.7 / 0.000
HbDhonburi/βA (3) / 25.6±1.3 / 1.5 / 0.131
Table S7: Comparison of HbA2 between carrier genotypes and normal genotype
Genotype (Number) / HbA2 / t-value / P-valueαα/αα and βA/βA（480） / 3.2±1.4 / - / -
-α3.7/αα (129) / 3.0±0.4 / 2.0 / 0.047
-α4.2/αα (11) / 3.0±0.3 / 0.5 / 0.603
--SEA/αα (75) / 2.6±0.4 / 3.9 / 0.000
αCSα/αα (15) / 3.0±0.7 / 0.6 / 0.544
αCSα/αCSα (1) / 5.98 / - / -
αWSα/αα (14) / 3.0±0.4 / 0.7 / 0.508
Codon 26/βA (63) / 23.5±6.0 / -27.0 / 0.000
Codon 26/Codon 26 (3) / 92.9±2.2 / -111.7 / 0.000
-28/βA (2) / 5.4±0.1 / -2.2 / 0.028
-50/βA (1) / 2.7 / - / -
Codon17/βA (13) / 5.6±1.4 / -6.1 / 0.000
Codons 41-42/βA (11) / 5.0±1.1 / -5.2 / 0.000
HbDhonburi/βA (3) / 3.7±0.4 / -0.6 / 0.539
Table S8: Hematology phenotypic analysis of rare thalassemia mutations carriers and patients
Genotype / Gender / Age / Hb(g/dl) / MCV(fl) / MCH(pg) / RDW(%) / HbA2--SEA/HBA2:c.1delA / Female / 30 / 72 / 71 / 18.3 / 34.7 / 1.71
α:--SEA/HBA2:c.1delA; β:Codon 26/βA / Female / 30 / 91 / 46.4 / 14.6
HBA1: c.95+1G>A/αα / Female / 21 / 110 / 86.8 / 27.8 / 11.6 / 2.76
HBA1:c.95+1G>A/αα / Male / 23 / 160 / 77.5 / 26.1 / 15.3 / 3.14
-α3.7/HBA1:c.95+1G>A / Female / 33 / 126 / 67 / 22.1 / 2.28
-α3.7/HBA1:c.95+1G>A / Female / 24 / 139 / 70.8 / 22.8 / 12 / 3.34
-α3.7/HBA1:c.95+1G>A / Male / 28 / 120 / 76.6 / 24.8 / 14.4 / 3.23
α:HBA1:c.95+1G>A/αα; β:Codon 26/βA / Male / 23 / 153 / 82.7 / 26.9 / 13.3 / 22.54
α:-α3.7/HBA1:c.95+1G>A; β:Codon 26/βA / Female / 20 / 107 / 80.2 / 26.2 / 16.43, HbF:6.9
Table S9: Hematological indices by the NGS for thalassemias
Tyoes / Genotypes by NGS / Number / MCV(fL) / MCH(pg) / HbA2(%) / HbF(%) / Abnormal Hb (n)Normal / - / 480 / 88.6±7.6 / 29.5±4.4 / 3.2±1.4 / 3.1±2.3 / 4
αMα/αα / 178 / 82.0±6.0 / 26.6±2.0 / 2.9±0.4 / 3.5±2.1 / 0
α-thalassemia carriers / αMαM/αα
αMα/αMα / 98 / 68.7±6.1 / 21.5±2.0 / 2.7±0.6 / 2.4±0.6 / 0
αMαM/αMα / 13 / 60.3±8.8 / 18.1±2.2 / 2.2±0.8 / - / 0
ααα/αα / 1 / 91.3 / 26.9 / 2.48 / - / 0
Codon 26/βA / 63 / 77.0±6.4 / 25.9±2.4 / 23.5±6.0 / 3.6±5.6 / 1
β-thalassemia / Codon 26/Codon 26 / 3 / 60.4±5.2 / 20.8±2.0 / 92.9±2.2 / - / 0
carriers / βM/βA / 32 / 68.8±11.2 / 21.5±3.8 / 5.2±1.3 / 2.2±0.8 / 0
βM/βM / 1 / 63.1 / 19.4 / 2.16 / 5.5 / -
Composite α- & β-thalassemia carriers / - / 82 / 73.2±10.5 / 23.7±3.8 / 16.4±14.9 / 3.1±2.9 / 4
Total / - / 951 / 82.1±11.0 / 27.0±4.8 / 5.9±9.1 / 3.1±3.2 / 9
*αMα/αα=-α3.7/αα, -α4.2/αα, αCSα/αα, αWSα/αα, HBA1: c.95+1G>A/αα, Hb Queens Park/αα, Hb Hekinan/αα, HbOwari/αα; αMαM/αα or αMα/αMα=-α3.7/ αCSα, -α3.7/ αWSα, -α3.7/-α3.7,-α3.7/-α4.2, -α3.7/HBA1:c.95+1G>A, -α3.7/HbOwari, --SEA/αα, αCSα/αCSα; αMαM/αMα=--SEA/-α3.7, --SEA/ αWSα, --SEA/HBA2: c.1delA; βM/βA= Codons 41-42/βA, Codon17/βA, HbDhonburi/βA, -28 A>G/βA, -50 G>A/βA, c.316-238C>T/βA, IVS-I-1 (G>T)/βA; βM/βM= -50 G>A/ Codons 71-72.
Figure S1: Diagram of sequencing
Figure S2:Globin gene sequencing targets amplification: a. HBA1 gene sequencing area; b. HBA2 gene sequencing area; c. HBB-1gene sequencing area; d. HBB-2 gene sequencing area; e. HBA-Q gene sequencing area; f. HBB-Q gene sequencing area. DNA marker: DL2000 (Takara).
Figure S3:RBC indices and hemoglobin electrophoresis in false negative(FN) and false positive(FP). The deviation valuegroup carriesCodon 26/βA mutation in HbA2-value (FN by RBC)
False negative genotypes
The predominant false negative genotypes by RBC indices were: -α3.7/αα+ Codon 26/βA, -α3.7/αα+HbDhonburi/βA, αCSα/αα+ Codon 26/βA, αWSα/αα+ Hb Hope/βA, Codon 26/βA, -50 G>A/βA, c.316-238C>T/βA, IVS-I-1 (G>T)/βA, Codons 41-42/βA, HBA1: c.95+1G>A/αα, Hb Hekinan/αα, Hb Owari/αα, -α3.7/ αWSα, αCSα/αα, αWSα/αα, -α3.7/αα, -α4.2/αα.
The major false negativegenotypes byhemoglobin electrophoresis were: -α3.7/αα+ -50 G>A/βA or c.316-238C>T/βA or Codons 41-42/βA, --SEA/αα+ Codon 26/βA,αWSα/αα+ Hb Hope/βAor Codon 26/βA, Codons 41-42/βA, Codon 26/βA, -50 G>A/βA, Codon 17/βA, HbDhonburi/βA, -α3.7/HBA1:c.95+1G>A, --SEA/Hb Hekinan, HBA1: c.95+1G>A/αα, Hb Hekinan/αα, Hb Owari/αα, Hb Queens Park/αα, -α3.7/αWSα, --SEA/αWSα, αCSα/αα, αWSα/αα, -α3.7/αα, -α3.7/-α3.7, --SEA/αα, -α3.7/-α4.2, -α4.2/αα, --SEA/-α3.7.
Cost-effectiveness analysis
We divided the economic burden of thalassemia detection intodirect,indirectandintangiblecosts, since it covered material cost, labor cost and capital cost, including the cost of patient care and non-patient careactivities. Lots of investigation had reported the cost of major and intermedia thalassemia in China1-3.The excepted lifespan for a normal individual is 75 years in China. The estimated annual per capitadirect cost forthalassemia major and intermedia is ¥43058.66; the estimated annual percapitaindirectcost of thalassemiais ¥20474.51; and the intangiblecost is estimated at¥302466.67(usually ¥138200.00-¥300000.00). The total economic burden ((direct cost + indirect cost)*75+ intangiblecost ) of thalassemia major and intermedia is estimated nearly $760000.00 dollars2. The cost-effectiveness ratio (CER) of finding a carrier of thalassemiawas ¥560.00,by traditional hematological screening methods (Blood routine examination andHemoglobin electrophoresis analysis first, and then hemoglobin gene test to confirm) in contrast to ¥200.00 by NGS screen based on our study. The incremental cost-effectiveness ratio (ICER) is a statistic used in cost-effectiveness analysis to summarize the cost-effectiveness of a health care intervention and could be estimated as ICER=(C1-C0)/(E1-E0), where C1 and E1 are the cost and effect in the intervention group and where C0 and E0 are the cost and effect in the control care group.In this study: C1=NGS cost of all samples, E1=Numbers of thalassemiacarriers detected by NGS, C0=Traditional hematological screening cost of all sample + kit testing cost of union set of the traditional hematological screening, E0= Numbers of thalassemiacarriers detected by kit testing after the MCV+MCH, HbA2 parallel combined detection screen. The ICER of NGS & traditional hematological screeningis -2920. NGS screening not only reduces screening costs, but by early diagnosis also avoids the economic burden of thalassemia major and intermedia among infants estimated to cost nearly one million dollars over their lifespan.
Table S10: Data sourcesof cost-effectiveness analysis
Index / Cost(CNY) / SourceAnnual average treatment fee (Average monthly blood transfusion fee1700.00,) Average monthly Iron-Chelating Theraping fee 3300.00) / 60000.00 / 3
Average transplantation therapy (stem celltransplants) / 400000.00
Annual per capita direct cost for thalassemia major and intermedia(outpatientclinics, hospitalization, nutritionalcosts, care services, transportation costs) / 43058.66 / 2
Annual per capita indirect cost of thalassemia, evaluated using disability adjusted life years (DALY) combined with human capital / 20474.51
Intangible cost, calculated using method of willingness / 30246.67 (Mostly 138200.00-300000.00, few up to 1000000.00)
Blood routine examination / 5.00 / Our investigation
Hemoglobin electrophoresis analysis / 55.00
Thalassemia genotyping kit testing / 500.00 (from 300.00 to 500.00)
NGS screening / 200.00 (intermediatevalue,mostly from 150.00-250.00)
Blue Book of Thalassemia in China (2015) China Social Sciences Press. Beijing AngelMom Charity Foundation. China Siyuan Foundation for Poverty Alleviation. Beijing Normal University, China Philanthropy Rresearch Institute.
Reference:
1.Mai FM, Li Y, Zeng FL, Zhong LY. Strategy study on prenatal diagnosis of thalassemia and health economic evaluation. Maternal & Child Health Care of China 2013;28(05):741-744.
2.Lin HZ, Peng WB, Ma YZ, et al. Analysis of economic burden of major and intermedia thalassaemia in Guangdong Province. Journal of Medical Postgraduates. 2015;6:642-645.
3.Foundation BAC, Alleviation CSFfP, Beijing Normal University CPRI. Blue Book of Thalassemia in China. Beijing: China Social Sciences Press; 2015:91pp.
Supplement Tab. Synonyms of variants in the article
Locus / Type / Name in article / HGVS Namealpha / SNV / c.95+1G>A / HBA1: c.95+1G>A
alpha / SNV / Hb Queens Park / HBA1: c.98T>A
alpha / SNV / c.1delA / HBA2: c.1delA
alpha / SNV / Hb Hekinan / HBA2: c.84G>C
alpha / SNV / Hb Owari / HBA2: c.364G>A (or HBA1)
alpha / SNV / αWSα / HBA2: c.369C>G
alpha / SNV / αQSα / HBA2: c.377T>C
alpha / SNV / αCSα / HBA2: c.427T>C
alpha / CNV / -α3.7 / NC_000016.9: g.223300_227103del
alpha / CNV / --SEA / NC_000016.9: g.215400_234700del
alpha / CNV / -α4.2 / NC_000016.9: g.219817_(223755_224074)del
alpha / CNV / ααα / NC_000016.9: g.223300_227103dup
beta / SNV / -50 G>A / HBB: c.-100G>A
beta / SNV / -28 A>G / HBB: c.-78A>G
beta / SNV / Codon 17 / HBB: c.52A>T
beta / SNV / Codon 26 / HBB: c.79G>A
beta / SNV / IVS-I-1 (G>T) / HBB: c.92+1G>T
beta / SNV / Codon 41 (-C) / HBB: c.126delC
beta / SNV / Codons 41-42 / HBB: c.126_129delCTTT
beta / SNV / Codons 71-72 / HBB: c.216_217insA
beta / SNV / c.316-238C>T / HBB: c.316-238C>T
beta / SNV / Hb Dhonburi / HBB: c.380T>G
beta / SNV / Hb Hope / HBB: c.410G>A
NCBI Reference Sequences:
NG_000006.1Homo sapiens alpha globin region
NG_000007.3Homo sapiens beta globin region
The data can be found in the Leiden Open Variation Database here
1