Table 2 Alpha-thalassaemia mutations in different ethnic groups

Mediterranean

α⁰

- - ^{MED I}

Relatively frequent in Greece, Cyprus, Turkey

- - ^{MED II}

Relatively rare, Southern Italy, Greece, Turkey

- (α)^20.5

Common in Greece, Cyprus, Turkey

α⁺

- α^3.7

Common in all Mediterranean populations

α ^{IVS I(-5 nt)} α

Relatively common

α^{Constant Spring} α

Relatively rare in Greece, independent event from CS in SE-Asia

αα ^cd119C>T

Hb Groene Hart, common in Moroccan, Tunisian

α⁺ - α⁰

α ^PA1(AATAAG) α

In homozygous causing HbH disease, compound heterozygote with α⁰ -thal deletion causing an Hb Bart's HF-like syndrome

α ^PA2(AATGAA) α

Middle East

α⁰

- - ^{MED I}

Common in Iran, Palestinians, Arab population

α⁺

- α^3.7

Common in Iran, Palestinians, Arab population

α⁺ - α⁰

α ^PA1(AATAAG) α

Relatively common in Arab population

India

α⁺

- α^3.7

Common

- α^4.2

Less common

α ^{Koya Dora} α

Relatively rare

α ^{IVS I-117} α

Relatively rare

α⁺ - α⁰

α ^{PA3(AATA- -)} α

Also found in Hindustani from Surinam

South-East Asia

α⁰

- - ^SEA

Most common deletion among Asians world wide

- - ^FIL

Mainly in Philippinians

- -^THAI

Common among Thai

α⁺

- α^3.7

Relatively common

- α^4.2

Relatively rare

α^{Constant Spring} α

One of the most common non-deletion variants in Chinese

α^{Suan Dok} α

Highly unstable α-chain

α^{Quong Sze} α

Highly unstable α-chain

α^Paksé α

Highly unstable α-chain, found in Thai, Laotian

α^{init A-G} α

Common in Vietnam

α^{init -TG} α

Common in South-East Asia

African, Afro-American and Afro-Caribbean

α⁰

- α^{3.7 init GTG}

One of the few α⁰-thal alleles in African population

- α^{3.7 init (-2 bp)}

One of the few α⁰-thal alleles in North-African population

α⁺

- α^3.7

Common

- α^{3.7 Cd14 T>G}

Hb Evanston, relatively rare, also found as α^Tα allele in Surinamese

α^{Seal Rock} α

Relatively rare

North-European, Caucasian

α⁰

- - ^{Dutch I}

Rare among Dutch, Germans

- - ^{Dutch II}

Rare, found in different Dutch families with common ancestor

- - ^Brit

Rare, found in different British families with common ancestor

α⁺

α^IVS1-116α

Rare, found in different independent Dutch families

α^IVSII-2α

Very rare, found in Dutch families with common ancestry

α^cd129α

Hb Utrecht, found occasionally in Dutch families