Alpha thalassaemia in Sardinian newborns

Abstract

In this study we describe the correlation between the haematological parameters (red cell indices and Hb Bart's levels) and the α‐globin genotype in Sardinian newborns. Increased Hb Bart's levels at birth always indicates α‐thalassaemia, either of the deletion or non‐deletion variety. Infants with two α‐globin genes deleted (‐α/ ‐α and ‐ ‐/act genotypes) had microcytosis, low MCH and Hb Bart's in the 2.0‐7.1% range. A minority (38.9%) of infants with the (‐α/αα) globin genotype had detectable Hb Bart's, in the 0.78‐2 '5% range, frequently associated with minimal microcytosis while the remainder (61 e l %) were completely silent. Infants carriers of a non‐deletion type of α‐thalassaemia showed Hb Bart's levels within the range found in the (‐ α/αα) genotype. The association of heterozygous Po‐thalassemia seems to have no effect on the expression of any of these α‐thalassaemia lesions at birth.