Alpha thalassaemia in an Italian population

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Abstract
The incidence of .alpha.-thalassaemia in an Italian population has been determined by a survey of random cord bloods for the presence of Hb Bart''s. 144 out of 4730 (3%) had detectable amounts of Hb Bart''s. Furthermore, .alpha.-globin gene analysis of 100 random cord bloods showed that five out of 100 had the common type of .alpha.-thalassaemia caused by a single .alpha.-globin gene deletion (-.alpha.). The molecular basis of .alpha.-thalassaemia was also determined in a selected group of 34 newborns with detectable levels of Hb Bart''s. 25 of these cases had the -.alpha.3.7 deletion type of .alpha.-thalassaemia and nine had nondeletion types of .alpha.-thalassaemia in four of which the molecular defect was detectable directly by restriction enzyme analysis.

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