New technologies for genetic studies will help to find variants in other genes, in addition to those known, that contribute to or modulate the CDA phenotype or support the correct diagnosis.
Structural haemoglobinopathy should be investigated in subjects belonging to ethnic groups with high prevalence of variant Hb and with a score of 3 or 4. Erythrocytes of HbAC subjects are smaller and denser than those of HbAS subjects.
These results suggest that, even in the presence of normal Hb and MCV values, including haemoglobinopathies in the initial screening of newly arrived sub-Saharan immigrants would be very useful.
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