ABSTRACT
Thalassaemia major was first described in 1925 [1] in 7 children of Italian origin. At the same time, in Italy, a disease called ‘haemolytic jaundice with increased red cell osmotic resistance’, with a clinical picture corresponding to what is called ‘thalassaemia intermedia’ today, was described in 2 patients from Ferrara [2]. This disorder, considered the most common monogenic disease, is transmitted as an autosomal recessive and is due to abnormal synthesis of one or more haemoglobin polypeptide chains. Underlying genetic defects include total or partial deletions of globin chain genes and nucleotide substitutions, deletions and insertions leading tos decreased, absent, or functionally defective mRNA. In addition, haemoglobin E, a β-globin structural variant, when inherited together with β-thalassaemia produces the phenotype of thalassaemia major. Ineffective erythropoiesis and haemolysis give rise to severe anaemia, that usually appears, in the case of homozygous β-thalassaemia, in the first year of life. The thalassaemia mutations occur in high frequency in areas of past endemic falciparum
malaria. Although community screening and genetic counselling have decreased the births of new patients to very low levels in the Mediterranean area (Figure 18.1), it has been estimated that in the Indian subcontinent and South-East Asia many thousands of thalassaemics will be born in the near future [3]. In Iran, registered thalassaemia patients number more than 20000 [4],
while in India there are 10000 births a year [5]. β-and α-thalassaemias can be clinically classified as in Tables 18.1 and 18.2. Conventional treatment includes red cell transfusions, chelation therapy to control the transfusional iron overload, and, in most cases, splenectomy (Table 18.3).
