The rare Hb Shimonoseki [α54(E3)Gln→Arg, HBA2: c.164A > G (or HBA1)] has been reported in Western Japan. Hb Shimonoseki seems to be an innocuous variant and few published data are available.
Hemoglobinopathies are common genetic disorders, with an 8.0% carrier frequency in Greece, prompting the need for a national prevention program.
Over 15 years (2001-2015), the National Thalassaemia Prevention Programme in Northern Greece screened 33,837 at-risk individuals, leading to genetic counseling for 371 pregnancies.
The program achieved a significant reduction in new thalassemic births, with only four new cases annually, reflecting a 90.0% decrease in affected newborns in the region.