About Thalassaemia by Dr. Androulla Efeftheriou

By Dr. Androulla Efeftheriou

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Delayed puberty and hypogonadism are the most common iron-related endocrinological complications reported in almost all studies from a range of countries. Delayed puberty is defined as the complete absence of sexual development: breast enlargement in girls by the age of 13 years and increase of testicular size in boys by the age of 14 years. If no pubertal sign is seen by the age of 16 years, the patient is diagnosed as having hypogonadism -- in boys, the testes and the penis remain small in size, while in girls, breasts have not developed and the onset of the menstrual cycle has not occurred (primary amenorrhoea).

Fluctuating liver function tests have required a small proportion of patients to stop using L1. One paper suggests that liver fibrosis may progress more rapidly in patients using L1 than those using DFO, although observations of a number of different studies (not designed for this purpose) and a recent evaluation by 3 independent pathologists of serial liver have so far failed to report progression of fibrosis. However, prospective trials should be undertaken to resolve this issue. Unwanted effects caused treatment with L1 to be stopped in 13%-30% in various studies.

These patients experience chronic anaemia, as well as gradual deposits of iron on the heart - both of which place considerable strain on the heart and can cause heart failure. The majority of untransfused or low transfused patients do not reach the second decade of life, with heart disease the main cause of death. 65 Patients who are well transfused but do not receive effective iron chelation, either because they are unwilling to use DFO as regularly as recommended or because DFO is not easily available (or is too expensive), may experience heart problems as a result of iron overload.

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