Sardinian Family Research Articles

A case of haemoglobin J Sardegna- -thalassaemia double heterozygosis.

Clinical and haematological findings of a Sardinian family are described. Three members were carriers of Hb J Sardegna, 5 were heterozygous for <i>β</i>-thalassaemia and 2 were double heterozygous for Hb J Sardegna and <i>β</i>-thalassaemia. The presence of Hb J Sardegna did not give rise to appreciable changes in the haematological picture: heterozygous carries displayed normal values, while double Hb J/<i>β</i> -thalassaemia heterozygotes presented clinical and haematological signs typical for <i>β</i> -thalassaemia. In the propo-situs, the relative rate of synthesis of «- and <i>β</i>-chains and oxygen dissociation curve were studied. The interaction between <i>β</i> -thalassaemia and <i>α</i>-chain variants is discussed.

Association of Hæmoglobin N and Microcythæmia in a Sardinian Family

IN the course of a survey of the frequency of microcythaemic syndromes conducted in the summer of 1960 in Sardinia1, we encountered a family in which were present both an abnormal haemoglobin, faster than Hb A, and the microcythaemic (or thalassaemic) character.