Table 2.
Alpha-thalassaemia mutations in different ethnic groups
| Ethnic group | Type of thal | Mutation(s) | Occurrence |
|---|---|---|---|
| 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+ | - α3.7 | Common in all Mediterranean populations | |
| α IVS I(-5 nt) α | Relatively common | ||
| αConstant 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+ | - α3.7 | Common in Iran, Palestinians, Arab population | |
| α+ - α0 | α PA1(AATAAG) α | Relatively common in Arab population | |
| India | α+ | - α3.7 | Common |
| - α4.2 | 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+ | - α3.7 | Relatively common | |
| - α4.2 | Relatively rare | ||
| αConstant Spring α | One of the most common non-deletion variants in Chinese | ||
| αSuan Dok α | Highly unstable α-chain | ||
| αQuong Sze α | Highly unstable α-chain | ||
| αPaksé α | Highly unstable α-chain, found in Thai, Laotian | ||
| αinit A-G α | Common in Vietnam | ||
| αinit -TG α | Common in South-East Asia | ||
| African, Afro-American and Afro-Caribbean | α0 | - α3.7 init GTG | One of the few α0-thal alleles in African population |
| - α3.7 init (-2 bp) | One of the few α0-thal alleles in North-African population | ||
| α+ | - α3.7 | Common | |
| - α3.7 Cd14 T>G | Hb Evanston, relatively rare, also found as αTα allele in Surinamese | ||
| αSeal 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+ | αIVS1-116α | Rare, found in different independent Dutch families | |
| αIVSII-2α | Very rare, found in Dutch families with common ancestry | ||
| αcd129α | Hb Utrecht, found occasionally in Dutch families | ||
Adapted from Barbara J. Bain, Haemoglobinopathy Diagnosis 2nd edition 2006 {Bain, 2006 126/id}