Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Homozygous alpha-thalassaemia Hb Bart is a very rare illness in North America and Western Europe, but is a common cause of NIHF especially in South East Asia. It causes severe hydrops fetalis with lethal outcome and maternal complications as preterm labour, pre-eclampsia and retained placenta. A case report of an immigrant from Laos with preterm labour and fetal ascites, but without signs of pre-eclampsia is demonstrated. Fetal heart rate (FHR) trace and biophysical profile were pathological, while umbilical Doppler flow was normal due to hypoxaemia, but with hypervolumina and a high cardiac output. An amniocentesis and puncture of the ascites were performed, but FBS was not successful. Before receiving the results a caesarean section had to be done for deterioration of the FHR trace. A 1,370-g female infant was born who died of cardiovascular failure due to an alpha-thalassaemia Hb Bart and respiratory distress 5 days post partum. The parents had both an alpha-zero-thalassaemia. alpha-Thalassaemia is still a very unknown illness in Germany, but with the increasing numbers of immigrants from South East Asia it should be considered at the differential diagnosis of hydrops fetalis. A prenatal diagnosis should be offered to parents with alpha-zero-thalassaemia.
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PMID:Perinatal case report of unexpected thalassemia Hb Bart. 828 33

beta-Thalassemias are highly prevalent genetic disorders that can cause severe hemolytic anemia. The main pathophysiologic feature of beta-thalassemia is the accumulation of unpaired alpha-globin chains in erythrocyte precursors and red blood cells (RBCs). This accumulation alters cell membrane function and results in early cell destruction and ineffective erythropoiesis. Correction of globin chain imbalance through the induction of fetal hemoglobin (HbF) synthesis is a tentative therapeutic approach for this class of diseases. In short-term in vitro or in vivo assays, recombinant human erythropoietin increases the frequency of erythroid precursors programmed to HbF in humans and to beta-minor globin in mice. In contrast, long-term treatment of beta-thalassemic patients did not induce HbF significantly. We took advantage of highly efficient adeno-associated virus-mediated (AAV-mediated) gene transfer into mouse muscle to induce a robust and sustained secretion of mouse erythropoietin in beta-thalassemic mice, which represent a suitable model for human beta-thalassemia intermedia. A 1-year follow-up of 12 treated animals showed a stable correction of anemia associated with improved RBC morphology, increased beta-minor globin synthesis, and decreased amounts of alpha-globin chains bound to erythrocyte membranes. More effective erythropoiesis probably accounted for a reduction of erythroid cell proliferation, as shown by decreased proportions of circulating reticulocytes and by reduced iron 59 ((59)Fe) incorporation into erythroid tissues. This study indicates that the continuous delivery of high amounts of autologous erythropoietin induced a sustained stimulation of beta-minor globin synthesis and a stable improvement of erythropoiesis in the beta-thalassemic mouse model. (Blood. 2000;95:2793-2798)
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PMID:Improvement of erythropoiesis in beta-thalassemic mice by continuous erythropoietin delivery from muscle. 1077 23

A serious problem in thalassemia major is growth impairment for which several possible etiologies have been proposed. Sixty-seven patients with thalassemia were randomly enrolled into the study, divided into 2 groups with and without growth failure and the correlation between growth failure and the following parameters was evaluated: age, sex, serum ferritin level, serum zinc and copper concentrations, serum copper-zinc ratio, regularity of blood transfusion, and the regularity and duration of chelation therapy. Among all studied parameters, only age, duration, and type of chelation therapy and age of beginning chelation therapy were significantly different between the 2 groups. Binomial multivariate logistic regression showed that the only significant independent correlation was between age and growth failure. A 1-year increase in age is associated with a 1.57-fold increase in the risk of growth impairment. The results of this study indicated that a temporally cumulative damage to growth-mediating mechanisms except those considered here is responsible for growth failure in thalassemia major.
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PMID:Growth impairment in beta-thalassemia major: the role of trace element deficiency and other potential factors. 1723 59