Occurrence of haemoglobin norfolk (α257(E6) Gly→ASPβ2) at the level of 33% in an Italian family from calabria

An abnormal, fast-moving haemoglobin was observed in 5 healthy subjects of a family from Calabria (southern Italy). In all these carriers the abnormal haemoglobin, which structural studies identified as Hb Norfolk (α257(E6) Gly→Aspβ2) [4], occurs at a level averaging 33% of the total haemoglobin. Biosynthetic studies showed no evidence for unbalance of the globin chain synthetic ratio. In order to account for the observed percentages of Hb Norfolk, current concepts about the a-globin chain genetic system are reviewed, and different genie arrangements which would be in agreement with the experimental findings are discussed. © 1979 S. Karger AG, Basel