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Fetal hydrops in Sardinia: implications for genetic counselling

This paper describes the first case of Hb Bart's hydrops fetalis syndrome in the Sardinian population. Despite the high frequency of α‐thalassemia, fetal hydrops is extraordinarily rare in the Sardinian population because α‐thalassemia is more usually the result of the single α‐thalassemia globin gene deletion and is very rarely produced by the deletion of two α‐globin genes. The fetus, the product of a consanguineous marriage at risk for β‐thalassemia, was monitored by chorionic villi DNA analysis which detected the heterozygous state for the codon 39 nonsense mutation. Follow‐up ultrasound examination showed fetal hydrops, which led us to carry out further investigation. Hemoglobin and α‐globin gene analysis on cord blood obtained by cordocentesis revealed the homozygous state for the most common deletion α°‐thalassemia in Mediterranean populations. Retrospective evaluation of the father's hematological features showed very low MCH‐MCV for a β‐thalassemia carrier which may indicate coinherited α‐thalassemia. These findings indicate that careful evaluation of red cell indices of parents at risk for β‐thalassemia and adequate consideration of the consanguinity may point to co‐inherited α‐thalassemia and lead to the appropriate analysis.