Genotyping for known Mediterranean alpha-thalassemia point mutations using a multiplex amplification refractory mutation system.

We report the conditions of a multiplex-amplifiction refractory mutation system (ARMS) for genotyping for nine assay for the detection of alpha1 Hb J-Oxford and -alpha3.7 -AC. The method is reproducible, reliable, simple, rapid, inexpensive and provides genotype diagnosis in >70% of point-mutation carriers in Mediterranean countries. Moreover, it allows investigation of the structure of mutated alleles by sequencing ARMS-amplicons.