One hundred patients with homozygous or doubly heterozygous beta-thalassemia (62 with the major form and 38 with beta-thalassemia intermedia) were examined for signs of Pseudoxanthoma elasticum (PXE). Diagnostic skin lesions were found in 16 patients with either form of the basic disease. Twenty percent of all patients had angioid streaks (AS); both PXE skin lesions and AS were found in 10% of the patients; in all, 26% had either one or both of these manifestations. A positive correlation was found between the presence of one or both types of lesion and age of the patients (P = 0.032); there were no differences as regards ferritin and hematocrit levels, number of transfused units, chelation therapy, and splenic status between patients with PXE/AS findings and those without. The pathogenesis of these connective tissue manifestations at such a high frequency in beta-thalassemia is not clear; the possibilities of it's being acquired or inherited are discussed, the former being considered to be the more economical interpretation.

The aim of this study was to assess the erythropoietic response to hypoxaemia in patients with diffuse idiopathic pulmonary fibrosis (DIPF), and to speculate on the underlying mechanisms. Patients on an established chronic respiratory failure due to DIPF or chronic obstructive pulmonary disease (COPD) were studied. The erythropoietic response to hypoxaemia in both conditions was assessed. We studied 18 patients with DIPF and 29 patients with COPD in respiratory failure in a stable stage, free from acute infection and congestive heart failure. Blood gases, erythrocytic parameters, as well the serum levels of iron, ferritin and erythropoietin were determined. All the DIPF patients studied, apart from two, had normal or subnormal haematocrit values. The patients with COPD had an inconsistant response to hypoxaemia; 12 had normal or subnormal haematocrit values and the remaining 17 were erythraemic. The mean value of erythropoietin (EPO) in both DIPF and COPD patients was significantly higher than normal. In conclusion, patients with DIPF exhibit a lack of erythropoietic response to hypoxaemia, despite the augmented erythropoietin levels. This may reflect a defective bone marrow erythropoietic response in DIPF patients. It is suggested that the pathophysiology of DIPF underlies this mechanism.

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Erythropoietin levels were determined in 50 Greek females: 20 beta-thalas-saemia (beta-thai) heterozygotes, 15 with a diagnosis of iron-deficiency anaemia and 15 normal controls. In beta-thai trait carriers, the erythropoietin levels were slightly higher than in normal controls (16.65 ± 4.43 vs. 12.84 ± 2.47 mU/ml); these levels were significantly lower than those in iron-deficient subjects with the same degree of anaemia (55.24 ± 31.35 mU/ml). In both groups, the erythropoietin levels are statistically correlated with the severity of anaemia (r = -0.537 p < 0.05 for iron deficiency; r = -0.610 p < 0.01 for beta-thai heterozygotes). In beta-thai heterozygotes, a close inverse correlation with red cell number and erythropoietin levels was also noted. It is suggested that microcytosis accompanying beta-thai trait constitutes an additional factor intervening in the regulation of erythropoiesis.

Two cases of beta thalassaemia with pseudoxanthoma elasticum and angioid streaks (Grönblad-Strandberg syndrome) are reported. To the best of our knowledge, this is the first report of a combination between these two genetically determined disorders. The possible theories of the pathogenesis of pseudoxanthoma elasticum and angioid streaks are discussed.