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Table 2 Alpha-thalassaemia mutations in different ethnic groups

From: α-thalassaemia

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
  1. Adapted from Barbara J. Bain, Haemoglobinopathy Diagnosis 2nd edition 2006 {Bain, 2006 126/id}