Occurrence of Haemoglobin Norfolk (α2 57(E6) GIy→Asp β2) at the Level of 33% in an Italian Family from Calabria
- 1 January 1979
- journal article
- research article
- Published by S. Karger AG in Acta Haematologica
- Vol. 61 (1) , 39-46
- https://doi.org/10.1159/000207624
Abstract
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) GIy→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 α-globin chain genetic system are reviewed, and different genie arrangements which would be in agreement with the experimental findings are discussed.Keywords
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