Globin chain synthesis has been studied in 17 patients with thalassemia intermedia, and their relatives, also investigated by routine hematologic and hemoglobinic tests. The mean α/non α ratio was always around 2.20–2.30. In patients with severe thalassemia major, used as a control, the mean α/non a ratio was significantly higher, that is 3.11–3.07. Therefore, the hypothesis that the cause of the lesser severity of the thalassemia intermedia is a lesser imbalance of globin chain synthesis, is suggested. One or both the parents of patients with thalassemia intermedia have mild β-thalassemia and normal α/βratio, whereas the parents of patients with severe thalassemia major show a marked β-thalassemia and a mean α/β ratio of 1.76. These data suggest that genes for β⁺-thalassemia are responsible for thalassemia intermedia, and genes for β°-thalassemia are responsible for thalassemia major. In two patients with thalassemia intermedia, the association of an α-thalassemia gene with homozygous β-thalassemia that it is well known to reduce the globin chain imbalance typical of the β-thalassemia, has also been observed.

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This project is aimed at avoiding reproduction by pairs of thalassaemia carriers and the birth of homozygous children.During the four campaigns 138 501 students were examined, that is, 70 to 76% of those enrolled. Of these 3343 were found to be thalassaemic. Thus the overall prevalence of thalassaemia in Latium is 2.41 %, with minor fluctuations from one province to another and, above all, a slight, though definite, trend towards higher values in the southern part of Latium bordering on Campania.The screening was welcomed by the population and the thalassaemic families, there were no detectable negative side-effects, and it resulted in an increased awareness of the problem of the thalassaemias.In a previous paper the results were Received for publication 5 September 1979 In communicating the results to thalassaemic students, in the first screening the words 'suspected thalassaemia' were adopted so as not to alarm the families. However, in the later campaigns, in all cases of P-or 68-thalassaemia, the diagnosis was explicitly stated by the sentence 'presence of Pthalassaemia' in order to avoid uncertainty and lack of faith in the work.A full set of investigations was carried out on the probands' families not only when the suspected thalassaemia was of the 3 or of the 63 type but also in the presumed carriers of oc-thalassaemia. The unambiguous interpretation of their slight but definite erythrocytic alterations as being the result of cx-thalassaemia spared them the uneasiness of further diagnostic investigations and led to a decision as to whether or not to prescribe iron treatment. It was also explained to these subjects the difference between 3-and a-thalassaemia and the different implications as far as offspring were concerned.

Thalassaemia with normal levels of Hb A, and Hb F and with an α/β ratio higher than 1 is described in 4 families. 3 of these families show direct or indirect signs of the presence of the δ-thalassaemia gene along with the β-thalassaemia gene. The fourth family leaves the question as to whether there is a single mutation of the δβ tract or a β + δ-thalassaemia in coupling unanswered. The necessity of knowing of the existence of this thalassaemia which conceals the presence of a β-thalassaemia gene, is stressed, above all in view of the danger that mating between a carrier of this thalassaemia and a carrier of classical β-thalassaemia could result in the birth of children with Cooley’s disease.

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