Haematological and clinical features of the haemolytic anaemia due to haemoglobin Torino are reported. The haematological picture is similar to that observed in other haemolytic anaemias due to unstable haemoglobins. The disease, present in three members of the same family, is inherited as a Mendelian co-dominant, non-sex-linked character.The disease is caused by the presence of haemoglobin Torino in erythrocytes and sulphonamide can provoke haemolytic crises. Besides the globin abnormality a decrease in porphobilinogen synthesis was demonstrated. Splenectomy improves the haematological state and clinical course.A new unstable haemoglobin, Hb Torino (a43 (CD I) phenylalanine-tvaline), has been recently described by Beretta et al (1968) in a man of Italian origin suffering from moderate anaemia with severe haemolytic crises. The clinical and haematological picture of the patient and of his relatives are described in this paper. Porphyrin synthesis and metabolism are also investigated in order to study the origin of the dipyrrolic urinary pigments excreted during the haemolytic crises.
MATERIALS AND METHODSThe propositus, suffering from haemolytic anaemia due to Hb Torino, and 13 of his relatives belonging to three different generations were examined. Standard methods were used for haematological and biochemical investigations. Methaemoglobin was determined in fresh blood samples and in samples incubated for 48 hr at 37°C according to Evelyn & Malloy (1938); heat denaturation test was performed according to Dacie et a1 (1964); Heinz body induction test was carried out according to Beutler et a1 (1955) ; the methaemoglobin reduction test according to Brewer et a2 (1962) ; glutathione was measured using the method of Selwyn