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Table 3 Summary of non-deletional mutations and their respective phenotypes. More concise lists of non-deletional mutations are presented in this link: (http://www.ithanet.eu/db/ithagenes; http://globin.bx.psu.edu/hbvar/menu.html) and are regularly updated [20,21,22]

From: Non-deletional alpha thalassaemia: a review

Stages involved in gene regulation Affected Sequence Affected Gene Specific Points of Mutation Designated Name Specific Region Phenotype
mRNA Processing
  IVS(a) HBA2 IVSI(−5 nt) Not Available Mediterranean α+
   HBA1 IVSI-1 ,,,, Thailand α+
   HBA2 P1(AATAAG) ,, Mediterranean α+-α0
Translation
   HBA2 InitATG>ACG ,, Mediterranean α+
   HBA2 InitATG>AG ,, Vietnam α+
   HBA2 InitATG>GTG ,, Mediterranean α+
   HBA2 InitATG>TG ,, South East Asia α+
  Exon II HBA1 Cd51–55(−13 bp) ,, Spain α+
   HBA2 Cd90 ,, Middle East α+
  Exon III HBA1 Cd131 Hb Pak Num Po Thailand α0
  Termination HBA2 Term Cd 427 T,143G Hb Constant Spring South East Asia α+
   HBA2 Term Cd 428A, 143Ser Hb Koya Dora India α+
   HBA2 Term Cd429A, 143Leu Hb Paksé, Laos and Thailand α+
Protein Stability
  Exon II HBA2 Cd35 Hb Evora Philippines and Portugal α+-α0
   HBA1 Cd59 Hb Adana China α+-α0
  Exon III HBA2 Cd125 Hb Quong Sze China α+
  1. HBA1 and HBA2 are alpha-globin genes according to the HUGO nomenclature. Cd Codon, P Poly-A Signal, term Termination codon, Del Deletion, int Initiation codon, and Hb Haemoglobin. (Modified from Cornelis, L. Harteveld and Douglas, R. Higgs, 2010 [23]).
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172