title: Pulmonary dysfunction in thalassaemia major: is there any relationship with body iron stores?
abstract: Although pulmonary function abnormalities in thalassaemia major (TM) were described in 1980, the pathogenetic mechanism is not clear and data are contradictory, probably because of study heterogeneity and the multifactorial nature of the pathogenesis. We retrospectively analysed 73 adult TM patients to evaluate the prevalence of pulmonary dysfunction in adult TM and investigate relationships with iron load. All patients underwent body plethysmography and carbon monoxide diffusion (DLCO) was assessed in 63, in addition to blood tests, echocardiogram and T2* myocardial and liver magnetic resonance imaging. Restrictive lung disease was present in 26 (35·6%) patients. Serum ferritin levels were higher in patients with restrictive pattern (1526 μg/l vs. 975 μg/l, P = 0·05). Restrictive lung disease did not correlate with cardiac or liver iron overload. However, considering only patients with serum ferritin >2500 μg/l, those with restrictive pattern also had heart (T2* 14·28 ± 9·99 ms vs. 31·59 ± 7·43 ms) and liver iron overload (LIC 16·02 ± 8·44 mg vs. 5·02 ± 2·69 mg Fe/g dry weight) compared to those without restrictive pattern. Twenty-five patients (39·7%) had decreased DLCO. No correlation was observed with iron parameters. In our data restrictive pattern was predominant; we observed a relationship with serum ferritin levels suggesting that iron, particularly its chronic effect, could play a role in the pathogenesis of pulmonary disease.
authors.affiliation: Rare Diseases Centre, Department of Medicine and Medical Specialities, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Guidotti
authors.affiliation: Department of Pathophysiology and Transplantation, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
authors.forename: Gioia
authors.initials: G
authors.lastname: Piatti
authors.affiliation: Rare Diseases Centre, Department of Medicine and Medical Specialities, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Alessia
authors.initials: A
authors.lastname: Marcon
authors.affiliation: Rare Diseases Centre, Department of Medicine and Medical Specialities, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Cassinerio
authors.affiliation: Rare Diseases Centre, Department of Medicine and Medical Specialities, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Marianna
authors.initials: M
authors.lastname: Giuditta
authors.affiliation: CMR Unit, Department of Cardiology, Niguarda Ca' Granda Hospital, Milan, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Roghi
authors.affiliation: Department of Pathophysiology and Transplantation, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
authors.forename: Valter
authors.initials: V
authors.lastname: Fasano
authors.affiliation: Epidemiology Unit, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Dario
authors.initials: D
authors.lastname: Consonni
authors.affiliation: Rare Diseases Centre, Department of Medicine and Medical Specialities, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Milan, Italy.|Department of Clinical Sciences and Community Health, Università degli studi di Milano, Milan, Italy.
authors.forename: Maria Domenica
authors.initials: MD
authors.lastname: Cappellini
mesh_terms: D000328:Adult; D002248:Carbon Monoxide / Q000097:blood; D005260:Female; D005293:Ferritins / Q000097:blood; D006801:Humans; D007501:Iron / Q000378:metabolism*; D019190:Iron Overload / Q000150:complications; D008171:Lung Diseases / Q000209:etiology*; D008297:Male; D010993:Plethysmography, Whole Body; D015995:Prevalence; D012189:Retrospective Studies; D017086:beta-Thalassemia / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology
chemical_list: D002248:Carbon Monoxide; D005293:Ferritins; D007501:Iron
keywords: ferritin; iron overload; pulmonary function; restrictive disease; thalassaemia major