Patients with β-thalassemia often present with a restrictive pattern at pulmonary function tests (PFTs) due to several pathogenetic factors. However, the long-term evolution is unknown. We performed a longitudinal study of pulmonary function in asymptomatic, non-smoking patients with β-thalassemia major and intermedia. We looked for temporal changes in lung function and characteristics that would predict the development of PFT abnormalities. In 1996, 18 patients with major β-thalassemia (9 males and 9 females; age range: 18–35 years) and 11 patients with intermediate β-thalassemia (5 males and 6 females; age range: 25–51 years) underwent clinical assessment and PFT, including body plethysmography and gas transfer study (carbon monoxide diffusion capacity, DL_CO). Patients were reassessed in 2003. An echocardiographic evaluation was also obtained to exclude pulmonary hypertension. In 55.5% of major and 45.4% of intermediate β-thalassemia patients, a restrictive pattern was found in 1996; in 2003 only 38.8 and 27.2% of patients, respectively, exhibited total lung capacities below the predicted values. DL_CO was unchanged in both groups of patients, being reduced in 5 thalassemia major patients and within the normal range in intermediate patients. We conclude that asymptomatic patients with β-thalassemia have a high prevalence of PFT abnormalities, but without significant increases over time. An improvement may be observed when good control of the iron balance is reached with optimal chelation therapy.

a b s t r a c tThe relationship between work rate (WR) and its tolerable duration (t LIM ) has not been investigated at high altitude (HA). At HA (5050 m) and at sea level (SL), six subjects therefore performed symptomlimited cycle-ergometry: an incremental test (IET) and three constant-WR tests (% of IET WR max , HA and SL respectively: WR 1 70 ± 8%, 74 ± 7%; WR 2 86 ± 14%, 88 ± 10%; WR 3 105 ± 13%, 104 ± 9%). The power asymptote (CP) and curvature constant (W ) of the hyperbolic WR-t LIM relationship were reduced at HA compared to SL (CP: 81 ± 21 vs. 123 ± 38 W; W : 7.2 ± 2.9 vs. 13.1 ± 4.3 kJ). HA breathing reserve (estimated maximum voluntary ventilation minus end-exercise ventilation) was also compromised (WR 1 : 25 ± 25 vs. 50 ± 18 l min −1 ; WR 2 : 4 ± 23 vs. 38 ± 23 l min −1 ; WR 3 : −3 ± 18 vs. 32 ± 24 l min −1 ) with nearmaximal dyspnea levels (Borg) (WR 1 : 7.2 ± 1.2 vs. 4.8 ± 1.3; WR 2 : 8.8 ± 0.8 vs. 5.3 ± 1.2; WR 3 : 9.3 ± 1.0 vs. 5.3 ± 1.5). The CP reduction is consistent with a reduced O 2 availability; that of W with reduced muscle-venous O 2 storage, exacerbated by ventilatory limitation and dyspnea.

Laryngeal hemiplegia (LH) is the most common disorder of laryngeal motility. It is deemed not to cause obstruction of the upper airway; in fact, the main symptoms are dysphonia and breathiness, and respiratory impairment is not commonly reported. The aim of this study was to objectively assess upper airway patency in 41 patients affected by LH (mean age, 54.4 +/- 15.2 years; 27 female) and 30 controls (mean age, 50.0 +/- 16.1 years; 19 female) by means of flow-volume loop spirometry and body plethysmography to measure specific airway resistance (sRaw) at increasing respiratory frequencies. The causes of LH were cervical surgery (28), tumor infiltration (5), and unexplained (8). None of the patients or controls was affected by lower airway disease. Spirometry showed that the patients had inspiratory flows (PIF, FIF50) significantly lower than those of the controls (p < .0001), whereas the expiratory flows (FEV1, FEF50) were normal, with the exception of peak expiratory flow (PEF), which was reduced, especially in female patients. The mean FEF50/FIF50 ratio (about unity in the normal subjects) was >1, as is typical of variable extrathoracic obstruction. Plethysmography showed that the values of sRaw of the LH group were not statistically different from those of the controls at 30 +/- 5 breaths per minute, but they progressively and significantly increased at 60 +/- 5 (p < .01) and 90 +/- 5 breaths per minute (p < .002), whereas no significant sRaw change was observed in the controls. These results show that LH causes obstruction of the upper airway that can be assessed and quantified by means of spirometry and body plethysmography. A dynamic narrowing due to inspiratory medialization of the paralytic vocal fold and flow turbulence during hyperventilation seem to be the causes of patency impairment. The flow-volume loop is an excellent, inexpensive, and easily available means of functionally evaluating upper airway obstruction, but some patients have difficulty in performing an inspiratory test that requires maximal effort, and the flow reduction during forced ventilation may be partially due to the effort dependency of the tests themselves. Plethysmographic assessment of airway resistance may be a valid alternative or complement, as it reveals an increase in sRaw at increasing respiratory frequencies.

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.