1,721,044 research outputs found
Thalassemia. A few new tiles in a large mosaic
No full textThalassemia is considered the most common genetic
disorder worldwide. In Europe the disease is particularly
prevalent in inhabitants of Italy and Greece. It is also
common in South East Asia and in the Middle East,
where it represents an important economic and social
burden. In North America more than 800 patients are
included in the Registry of the National Institutes of
Health-sponsored Thalassemia Clinical Research
Network.1 Thalassemia major used to be a rapidly fatal
disease and the results obtained in terms of survival
have been striking in the more industrialized parts of
the world, while they remain disappointing in lowincome
countries.
In this issue of the journal there is one article reporting
the results, in terms of survival, in the Greek Cypriot
population,2 and two articles evaluating new approaches
to the therapy of thalassemia
Cholostase recurrente benigne
No full textA 14-year-old girl with recurrent episodes of cholestatic jaundice since 7 years of age is presented. Absence of extrahepatic obstruction, recurrent character of jaundice and liver biopsy pattern suggest the diagnosis of benign recurrent cholestasis. Spontaneous variations in the clinical course of the illness make it difficult to evaluate the therapeutic value of drug
Treatment of chronic childhood immune thrombocytopenic purpura with intramuscular anti-D immunoglobulins
No full textSeven patients with chronic immune thrombocytopenic purpura (ITP) were treated with intramuscular anti-D (anti-D IgG) five times, on an alternate-day basis, or until a platelet count of 100 x 109/l was achieved, and, subsequently, when necessary to maintain platelet counts above 50 x 109/l. Five patients responded to therapy, two of whom entered long-term remission. Although signs of haemolysis were present in all patients, anaemia was never a problem. No patient developed haematomas at the site of injection. We suggest that intramuscular anti-D represent a safe and relatively inexpensive alternative to intravenous gamma globulin (IVGG) for children with severe chronic ITP
Can the surgical tourniquet be used in patients with sickle cell disease or trait? A review of the literature.
Full text linkIntroduction: In patients with sickle cell disease, circulatory stasis, acidosis, and hypoxemia induce red cell deoxygenation and consequent sickling. Tourniquets are an important adjunct in limb surgery to obtain a bloodless field. Many local and systemic effects, due to the inflation and deflation of the tourniquet, can develop. These effects may have severe consequences if comorbidities are present. The use of a tourniquet in sickle cell patients is controversial because it may provoke vaso-occlusive complications.
Areas covered: We reviewed the literature to detect reports of the use of tourniquet in sickle cell disease or sickle trait. We found only three case reports and five case series, three of which controlled, none randomized, on the complications of tourniquet.
Expert commentary: From what we could find in the literature and contrary to what is suggested by most guidelines it appears that complications are rare. However, caution must be applied and the risk/ benefit ratio carefully considered
Myocardial fibrosis by delayed enhancement cardiovascular magnetic resonance and HCV infection in thalassemia major patients.
No full textA moderate transfusion regimen may reduce iron loading in beta-thalassemia major without producing excessive expansion of erythropoiesis.
No full textBACKGROUND: Hypertransfusion with a baseline hemoglobin of 10 to 12 g per dL is still considered by many to be the mainstay of conservative therapy for beta-thalassemia major. However, this regimen is frequently associated with manifestations of transfusion iron overload, despite regular chelation therapy with subcutaneous desferoxamine.
STUDY DESIGN AND METHODS: To verify whether a transfusion regimen with a target pretransfusion hemoglobin level between 9 and 10 g per dL can allow a significant reduction in blood consumption, while still effectively suppressing erythropoiesis, the records were reviewed of 32 beta-thalassemia major patients, who were maintained at a pretransfusion hemoglobin of 11.3 +/- 0.5 g per dL between 1981 and 1986. These patients were switched at the beginning of 1987 to a transfusion regimen with pretransfusion hemoglobin of 9.4 +/- 0.4 g per dL. The degree of erythroid marrow activity was evaluated in these patients and in 32 subjects with beta-thalassemia intermedia through the simple measurement of serum transferrin receptor.
RESULTS: After the adoption of the moderate transfusion regimen, transfusion requirements ecreased from 137 +/- 26 to 104 +/- 23 mL per kg per year of red cells (p < 0.0001), and mean serum ferritin decreased from 2448 +/- 1515 to 1187 +/- 816 micrograms per L (p < 0.0001), with one-half of patients achieving serum ferritin levels lower than 1000 micrograms per L. The proportion of patients having spontaneous pubertal development increased significantly (p < 0.01), as a result of less iron-related gonadotropin insufficiency. At the lower pretransfusion hemoglobin, erythroid marrow activity did not exceed two to three times normal levels in most subjects.
CONCLUSION: As compared with hypertransfusion, moderate transfusion may allow more effective prevention of iron loading, with higher likelihood of spontaneous pubertal development and without producing excessive expansion of erythropoiesis
Internal distribution of excess iron and sources of serum ferritin in patients with thalassemia.
No full textLiver and spleen iron concentrations, serum ferritin level and binding of S-ferritin to concanavalin A (Con A) were measured in 12 patients with thalassaemia major or intermedia at the time of splenectomy. All these subjects had increased liver iron concentration, most of them had hepatic fibrosis but none of them had histological evidence of chronic hepatitis. No patient had ascorbic acid deficiency. Serum ferritin concentration was increased in all cases, ranging from 266 to 5504 micrograms/l. In all but 2 subjects most of the protein did not bind to Con A, thus behaving as tissue ferritin. There were highly significant correlations between serum ferritin concentration, amount of blood transfused and liver iron concentration. On the average, iron concentration in the liver was about 3 times that in the spleen. The findings obtained suggest that in patients with thalassaemia major or intermedia most of the iron is deposited in parenchymal tissues and most of the S-ferritin derives by leakage from the cytosol of iron-loaded parenchymal cells. S-ferritin is a valid index of liver iron overload in thalassaemic patients without complications such as viral hepatitis and/or ascorbic acid deficienc
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