Genetic counselling for mediterranean anaemia in post-war Greece

Abstract

During the twentieth century, haemoglobinopathies and Down syndrome were the most frequent hereditary diseases in Greece. Until the 1950s, medical knowledge concerning the mechanism of hereditary transmission was inadequate, thus making the work of physicians very difficult. It was only in the 1960s when the improvement of medical technology and genetics provided physicians with accurate diagnosis of the most widespread anaemia in Greece, Mediterranean Anaemia or beta-Thalassaemia. In Greece, as in the majority of Mediterranean countries, there was a growing concern for this particular disease, because of the high percentage of carriers in the region. As was often expressed at that period of time (1950-1980), Mediterranean anaemia was the prime social and medical problem. A carrier of Mediterranean anaemia does not have any apparent symptoms, but the defective gene can be easily diagnosed with a simple blood test. Moreover, a defective gene is expressed only when the person inherits it from both parents. Due to the simplicity of the procedure and the safety of the result, many physicians found themselves obliged to recommend preventive measures, such as a simple blood test. While some considered the counsellor's involvement in the decision-making of the parents paternalistic, others thought it imperative. Discussion about genetic counselling prevailed during the period under examination and doctors' opinions varied. Value-neutral information about the risk of the disease and a non-directive approach were most of the time impossible. However, the dominant view among the doctors was that each prospective parent should take their own responsibility towards this problem. Since the 1960s, there have been numerous epidemiological studies and abundant statistical data dealing with the incidence of the disease. The first Centre for the prevention of Mediterranean Anaemia was established in Athens in 1975. The blood examination which revealed if someone was a carrier was free of charge. The Greek state funded this centre in Athens and smaller units, incorporated in big hospitals, in the rest of the country. Although some Mediterranean anaemia experts participated in the meetings of the Hellenic Eugenics Society, the prevention of thalassaemia in Greece was not associated with eugenics. Instead, it became part of the preventive policies of the Greek national healthcare system.