1/5. iron overload and iron-chelating therapy in hemoglobin e-beta thalassemia.Whereas hemoglobin (Hb) E-beta thalassemia is recognized as probably the most common serious hemoglobinopathy worldwide, its natural history remains poorly defined. The interaction of hemoglobin e and beta-thalassemia result in a wide spectrum of clinical disorders, some indistinguishable from thalassemia major and some milder and not transfusion-dependent. Partially as a result of this wide range of phenotypes, clear guidelines for approaches to transfusion and to iron-chelating therapy for patients with Hb E-beta thalassemia have not been developed. By contrast, data that have accumulated during the past 10 years in patients with beta-thalassemia permit a quantitative approach to the management of iron overload and provide guidelines for the control of body iron burden in individual patients treated with iron-chelating therapy. These guidelines may be applicable to patients with Hb E-beta thalassemia. Preliminary evidence from our studies of iron loading in affected patients with Hb E-beta thalassemia in sri lanka suggest that this disorder may be associated with variable, but accelerated, gastrointestinal iron absorption, and that the iron loading associated with chronic transfusions in patients with Hb E-beta thalassemia is similar to that observed in patients with beta-thalassemia. These data, in the only cohort of patients with Hb E-beta thalassemia to have undergone quantitative assessment of body iron burden, suggest that the principles that guide assessment of iron loading and initiation of chelating therapy in patients with beta-thalassemia may be generally applicable to those with Hb E-beta thalassemia. Further quantitative studies in both nontransfused and transfused patients will be necessary to permit firm conclusions.- - - - - - - - - - ranking = 1keywords = thalassemia (Clic here for more details about this article) |
2/5. intussusception due to yersinia enterocolitica enterocolitis in a patient with beta-thalassemia.patients who are homozygous for thalassemia major are at risk for yersinia enterocolitica infections. We present a case of a 4-year-old child with intussusception of the terminal ileum whose past medical history was significant for beta-thalassemia. His monthly blood transfusions for this condition may have put him at risk for Y enterocolitica enterocolitis. The pathogenesis of this disease relates to the role of iron as an essential growth factor for Yersinia, and this patient's transfusions left him in an iron-overloaded state, despite treatment with Desferal. Our patient's unusual presentation of intussusception was secondary to the mass effect caused by lymphoid hyperplasia, specifically hypertrophied peyer's patches in the ileum caused by Y enterocolitica infection. To our knowledge, this is the first such case of intussusception caused by Yersinia to be reported.- - - - - - - - - - ranking = 0.375keywords = thalassemia (Clic here for more details about this article) |
3/5. Pulmonary iron overload in thalassemia major presenting as small airway disease.lung function abnormalities that are associated with thalassemia major are variable with etiology that is yet undetermined. Some studies have suggested that pulmonary iron deposition is a probable cause for these lung defects although there has been no antemortem histopathological and radiological evidence for this. We report a case of thalassemia major with biopsy-proven pulmonary iron overload, in which thoracic high-resolution computed tomography revealed a morphological-functional correlation consistent with small airway disease.- - - - - - - - - - ranking = 0.375keywords = thalassemia (Clic here for more details about this article) |
4/5. Combined therapy with deferiprone and desferrioxamine successfully regresses severe heart failure in patients with beta-thalassemia major.Cardiac complications caused by iron deposition are major causes of death in patients with beta-thalassemia major. Deferiprone (L1) was found to have greater efficacy at depleting myocardial iron than desferrioxamine (DFX). Furthermore, combined therapy with L1 and DFX produced an additive or synergistic iron chelating effect. We report the successful treatment of severe heart failure in two patients with beta-thalassemia major with the combined therapy. Magnetic resonance images showed a marked recovery of signal intensity in the heart, indicating a significant reduction of iron load in the heart. No significant adverse effects were noted. Therefore, combined therapy with L1 and DFX should be considered in patients with beta-thalassemia major and cardiac complications.- - - - - - - - - - ranking = 0.4375keywords = thalassemia (Clic here for more details about this article) |
5/5. Type 3 hemochromatosis and beta-thalassemia trait.Type 3 hemochromatosis is a rare autosomal recessive disorder due to mutations of the TFR2 gene. We describe clinical, biochemical and histopathologic findings of a patient with type 3 hemochromatosis at presentation and during a follow-up of more than 20 yr and we evaluate the effect of an associated beta-thalassemia trait on phenotypic expression. At the age of 33 yr the patient showed a marked iron overload and severe iron-related complications. After removal of 26 g of iron by subcutaneous deferoxamine infusion a marked clinical improvement was observed. liver biopsies, performed at the age of 34 and 49 yr, indicate that in type 3 hemochromatosis there is a progressive hepatocellular iron accumulation from Rappaport's zone 1-3 and that iron loading in sinusoidal and portal macrophages occurs only in the more advanced stage. As observed in HFE hemochromatosis, the beta-thalassemia trait seems to aggravate the clinical picture of patients lacking TFR2, favoring higher rates of iron accumulation probably by activation of the erythroid iron regulator.- - - - - - - - - - ranking = 0.375keywords = thalassemia (Clic here for more details about this article) |