Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P02794 (ferritin)
 17,525 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Pseudoxanthoma elasticum-like skin lesions and angioid streaks in beta-thalassemia. 141 89

We examined 29 patients with homozygous beta thalassemia. The mean age of the patients was 15.6 +/- 8.9 years. Twelve patients (mean age, 02.0 +/- 10.4 years) had one or more ocular abnormalities. Five patients had degeneration of the retinal pigment epithelium, one had lens opacities, two had lens opacities and degeneration of the retinal pigment epithelium, one had vascular abnormalities and degeneration of the retinal pigment epithelium, one had angioid streaks, lens opacities, and degeneration of the retinal pigment epithelium, and two had angioid streaks and degeneration of the retinal pigment epithelium. These abnormalities were observed in patients with both forms of beta thalassemia, major and intermedia. The frequency of the ocular abnormalities increased with age. The youngest patient with an ocular abnormality was 6 1/2 years old. There was no correlation between the abnormalities observed and the serum ferritin level, the mean hematocrit value, and the dose of deferoxamine given to the patients.
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PMID:Ocular abnormalities in patients with beta thalassemia. 259 50

The purpose of this study was to define the incidence of arterial calcifications in patients with beta-thalassemia. Beta-thalassemia patients have been shown to present a high prevalence of angioid streaks and skin lesions characteristic of pseudoxanthoma elasticum (PXE). Given the fact that vascular involvement in the form of arterial calcifications is also a common manifestation of PXE, the authors investigated radiographically the presence of arterial calcifications in beta-thalassemia patients. They studied 40 patients with beta-thalassemia over 30 years of age. Forty healthy, age- and sex-matched subjects were chosen as a control group. Radiographs of the tibias were performed in order to disclose arterial calcifications. The occurrence of PXE skin lesions and of angioid streaks (AS) was also investigated. Arterial calcifications were detected in the posterior tibial artery in 22 (55%) beta-thalassemia patients and in six (15%) controls (P < 0.01 for the comparison). PXE skin lesions and AS were found in eight (20%) and 21 (52%) patients respectively. A total of 34 patients (85%) had at least one of the three lesions, namely, arterial calcifications, angioid streaks, and/or PXE-like skin lesions. Stepwise logistic regression analysis did not reveal prognostic value in independent variables such as transfusions, chelation therapy, pseudoxanthoma elasticum skin lesions and/or angioid streaks, diabetes, hemoglobin, serum ferritin, and uric acid. It was concluded that arterial calcifications are common in older beta-thalassemia patients. This finding could be a manifestation of an acquired PXE syndrome associated with beta-thalassemia, and consequently, vascular events complicating PXE should be expected in these patients.
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PMID:Arterial calcifications in beta-thalassemia. 948 13