Transfusion-dependent thalassemia and bone disease
Thalassemia is a disorder of haemoglobin synthesis due to mutations in the globin chains (α or β). In its more severe form it requires treatment with chronic transfusion therapy which leads to iron overload with cardiac, liver, endocrine and bone complications. Monash Health is the state referral centre for the management of transfusion-dependent thalassemia. Our recent work in conjunction with Professor Don Bowden (Head of Thalassemia Services) has described for the first time, a case of reversible osteomalacia secondary to Fanconi’s syndrome in the setting of an iron chelator, with ongoing studies examining mechanisms of bone loss in this population. We have also recently reported a high prevalence of kidney stones in transfusion-dependent thalassaemia and an association between reduced bone density, kidney stones and fractures.
We are exploring the kidney / bone axis as it is now becoming apparent that a number of clinical conditions impact these organs. Whilst these organs have been considered in isolation in the past, the interdependence of both organs is paramount in the skeletal integrity.
Professor Don Bowden
Professor Peter Kerr