Radioactive tracer studies of haemoglobin synthesis, erythropoiesis and red cell destruction in congenital haemolytic anaemias

Abstract

The studies to be described form part of a wider programme of investigation into the nature and causes of congenital haemolytic anaemias characterised by the presence of abnormal haemoglobins in the red cells. These diseases, and in particular thalassaemia (Cooley’s anaemia) in which the abnormality consists in the persistence of haemoglobin F, present an important medical problem in Greece. Thus in a survey of 500 recruits to the Greek armed forces, Malamos, Fessas and Stamatogiannopoulos (1959) found 6% with thalassaemia minor, that is, heterozygous carriers of the thalassaemia trait. This result may be compared with those of Silvestroni and Bianco (1959) who found from 0.4 to 19% of individuals with thalassaemia minor in different districts in Italy. Other surveys reviewed by Chernoff (1959) have revealed a high incidence of the thalassaemia gene in other Mediterranean countries, in Iraq, Iran and Arabia, in India, Burma, Thailand and other South East Asian countries, and in Central Africa. Whilst thalassaemia minor is largely asymptomatic, the signs and symptoms of thalassaemia major, the homozygous form of the disease, are very severe, and the great majority of homozygotes fail to reach puberty.