Table 1 Non-deletional mutations that cause α-thalassaemia

Cryptic splicing

α2

Cd22 C>T

c.69C>T p.Gly23Gly

Surinamese

α⁺

IVS(donor)

α2

IVS I(-5 nt)

c.95+2_95+6delTGAGG

Mediterranean

α⁺

α1

IVS I-1(g>a)

c.95+1G>A

Thai

α⁺

α2

IVS II-2 (t>a)

c.300+2T>A

North-European

α⁺ - α⁰

IVS(acceptor)

α2

IVS I-116 (a>g)

c.96-2A>G

Dutch

α⁺

α1

IVS I-117 (g>a)

c.96-1G>A

Asian Indian

α⁺

α2

IVS II-142 (g>a)

c.301-1G>A

Argentinian

α⁺ - α⁰

α1

IVS II-148 (a>g)

c.301-2A>G

Iranian

α⁺

Poly A signal

α2

PA del 16 bp

c.*74_*89delCCTTCCTGGTCTTTGA

Arab

α⁺ - α⁰

α2

PA1 (AATAAG)

c.*94A>G

Middle East, Med

α⁺ - α⁰

α2

PA2 (AATGAA)

c.*92A>G

Med, Chinese

α⁺ - α⁰

α2

PA3 (AATA- -)

c.*93_*94delAA

Asian Indian

α⁺ - α⁰

α2

PA4 (AATAAC)

c.*94A>C

α⁺ - α⁰

Initiation codon

- α^3.7

init ATG>GTG

c.1A>G p.Met1Val

African

α⁰

- α^{3.7 II}

init (-2 bp)

c.-2_-3delAC

N-African, Med

α⁺ - α⁰

α2

init ATG>ACG

c.2T>C p.Met1Thr

Med

α⁺

α2

init ATG>A-G

c.2delT p.Met1fs

Vietnam

α⁺

α1

init ATG>GTG

c.1A>G p.Met1Val

Med

α⁺

α2

init ATG>-TG

c.1delA p.Met1fs

South-East Asian

α⁺

Exon I

α1

Cd14 G>A

c.44G>A p.Trp15X

Iranian

α⁰

α2

Cd19 (-G)

c.60delG p.His21fs

Iranian

α⁺

α2

Cd22 (-C)

c.69delC p.Gly23fs

African

α2

Cd23 (G>T)

c.70G>T p.Glu24X

Tunesian

α⁰

- α

Cd30/31(-2 bp)

c.94_95delAG

African

α⁰

Exon II

α2

Cd39/41(del/ins)

c.118_126delACCAAGACC dup TACTTCCC p.Thr40fs

Yemenite-Jewish

α⁺

α1

Cd51-55(-13 bp)

c.155_167delGCTCTGCCCAGGT p.Gly52fs

Spanish

α⁺

α1

Cd62(-G)

c.187delG p.Val63fs

African

α1

Cd78(-C)

c.237delC p.Asn79fs

Black/Chinese

α2

Cd90 A>T

c.271A>T p.Lys91X

Middle Eastern

α⁺

Exon III

α1

Cd108(-C)

c.326delC p.Thr109fs

Jewish

α⁺ - α⁰

α2

Cd113/114(-C)

c.342_343delC p.Leu114fs

Unknown

α2

Cd113-116(-12 bp)

c.[339C>G;340_351delCTCCCCGCCGAG]

Leida

Spanish

α⁺ - α⁰

α2

Cd116 G>T

c.349G>T p.Glu117X

African

α⁺

α1

Cd131(+T)

c.396_397insT

Pak Num Po

Thai

α⁰

Termination codon

α2

Term Cd TAA>CAA

c.427T>C p.X143Gln

Constant Spring

South-East Asian

α⁺

α2

Term Cd TAA>AAA

c.427T>A p.X143Lys

Icaria

Med

α⁺

α2

Term Cd TAA>TCA

c.428A>C p.X143Ser

Koya Dora

Indian

α⁺

α2

Term Cd TAA>GAA

c.427T>G p.X143Glu

Seal Rock

African

α⁺

α2

Term Cd TAA>TAT

c.429A>T p.X143Leu

Paksé

Laotian, Thai

α⁺

Exon I

- α

Cd14 T>G

c.43T>G p.Trp15Gly

Evanston

African

α⁺

α2

Cd21 G>T

c.64G>T p.Ala22Ser

Zoetermeer

Dutch

α⁺

α2

Cd21 G>C

c.64G>C p.Ala22Pro

Fontaine-bleau

French

α⁺

α2

Cd29 T>C

c.89T>C p.Leu30Pro

Agrinio

Med

α⁺

α2

Cd30(-3 bp)

c.91_93delGAG p.Glu31del

Chinese

α⁺ - α⁰

α2

Cd31 G>A

c.95G>A

Chinese

α⁺ - α⁰

Exon II

α2

Cd32 G>A

c.99G>A p.Met33Ile

Amsterdam

Surinamese black

α⁺ - α⁰

α2

Cd33 T>C

c.101T>C p.Phe34Ser

Chartres

French

α⁺

α2

Cd35 T>C

c.106T>C p.Ser36Pro

Evora

Filipino, Portugese

α⁺ - α⁰

α1

Cd37(-3 bp)

c.112_114delCCC

Heraklion

Greece

α⁺ - α⁰

α2

Cd59 G>A

c.179G>A p.Gly60Asp

Adana

Chinese

α⁺ - α⁰

α1

Cd60/61(-3 bp)

c.184_186delAAG

Clinic

Spanish

α⁺ - α⁰

α2

Cd62(-3 bp)

c.187_189delGTG

Aghia Sophia

Greek

α⁰

α1

Cd64-74(-33 bp)

c.196_228delGCGCTGACCAAGGCCGTGGCGCACGTGGAC

Greek

α⁰

α2

Cd66 T>C

c.200T>C p.Leu67Pro

Dartmouth

Caucasian

α⁺ - α⁰

α2

Cd93 T>G

c.281T>G p.Val94Gly

Bronte

Italian

α⁺

α1

Cd93-99(dup21 bp)

c.280_300dupGTGGACCCGGTCAACTTCAAG

Iranian

α⁺ - α⁰

Exon III

α2

Cd103 A>T

c.311A>T p.His104Leu

Bronovo

Turkish

α⁺

α2

Cd104 G>A

c.314G>A Cys105Tyr

Sallanches

French/Pakistani

α⁺

α1

Cd104 T>A

c.313T>A p.Cys105Ser

Oegstgeest

Surinamese

α⁺

α2

Cd108 C>A

c.326C>A p.Thr109Asn

Bleuland

Surinamese

α⁺

α2

Cd109 T>G

c.329T>G p.Leu110Arg

Suan Dok

Thai

α⁺

α

Cd110 C>A

c.332C>A Ala111Asp

Petah Tikva

Middle East

α⁺

α1

Cd119 C>T

c.358C>T p.Pro120Ser

Groene Hart or Bernalda

Moroccan

α⁺

α2

Cd125 T>G

c.377T>G p.Leu126Arg

Plasencia

Spanish

α⁺

α2

Cd125 T>C

c.377T>C p.Leu126Pro

Quong Sze

Chinese

α⁺

- α^3.7

Cd125 T>A

c.377T>A p.Leu126Gln

Westeinde

Jewish

α⁰

α1

Cd129 T>C

c.389T>C p.Leu130Pro

Tunis-Bizerte

Tunisian

α⁺

α2

Cd129 T>C

c.389T>C p.Leu130Pro

Utrecht

Dutch

α⁺

α2

Cd130 G>C

c.391G>C p.Ala131Pro

Sun Prairie

Asian Indian

α⁺

α2

Cd131 T>C

c.394T>C p.Ser132Pro

Questembert

French/Yugoslavian

α⁺

α2

Cd132 T>G

c.398T>G p.Val133Gly

Caen

Caucasian

α⁺

α2

Cd136 T>C

c.410T>C p.Leu137Pro

Bibba

Caucasian

α⁺