Determinants of pulmonary hypertension in patients with Beta-thalassemia major and normal ventricular function.

BACKGROUND/AIMS: We sought to define the incidence and predictive factors of pulmonary hypertension in ß-thalassemia major. METHODS: We studied 27 consecutive patients (19 male, 38 ± 9 years of age) with ß-thalassemia major. All the patients had normal (left and right) ventricular (systolic and diastolic) function and underwent echocardiographic assessment of pulmonary artery systolic pressure. Univariate regression and discriminant function analyses were used to identify predictive factors of pulmonary hypertension. RESULTS: Pulmonary hypertension was observed in 18.5% of the patients, but clinically significant disease was detected in only 3.7%. A total of 14 (51.8%) patients had been receiving a combined administration of deferoxamine and deferiprone for 7.0 ± 1.3 years. Amidst a large number of variables examined, ferritin levels and delayed onset of chelation therapy were the only predictors of pulmonary hypertension. CONCLUSION: Pulmonary hypertension in ß-thalassemia major is relatively infrequent and generally mild due to improved chelation therapy. The role of hemochromatosis in pulmonary hypertension development merits further study.

Rheumatoid arthritis in patients with hemoglobinopathies.

Rheumatoid arthritis (RA) in patients suffering from hemoglobinopathies is an important clinical problem, but the correlation between these diseases is still imperfectly known. The aim of this study was to analyze the clinical, serological and radiological characteristics of RA occurring in patients with hemoglobinopathies (thalassemia major, thalassemia intermedia and sickle-cell disease). In a single institution, in an adult cohort of 90 patients with hemoglobinopathies, we investigated retrospectively medical records of the patients. We evaluated the clinical findings, the autoantibodies and the radiological progression of patients who were diagnosed with RA according the American College of Rheumatology (ACR) criteria for RA. There were found 4 patients, with thalassemia major, who fulfilling the ACR criteria for RA. The clinical picture of the patients revealed a mild form of arthritis of the knees, shoulders, wrist and hands, while one patient had episcleritis. All patients had radiological damage compatible with RA (Larsen's score, 28.75 ± 29). All had positive rheumatoid factor, while anti-cyclic citrullinated peptide antibodies were positive in 1 patient. Three patients received steroid treatment and one immunosuppressive agent (methotrexate). True RA with low frequency of extra-articular manifestations is described. The diagnosis of RA must be suspected in patients with hemoglobinopathies picture and chronic arthritis of small joints.