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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Thalassemies are the most common inherited disorders, occur at high frequency in endemic regions as the Mediterranean countries, Middle East, North Africa, Asia, and are associated with hypochromic, hemolytic anemia. For several years, immigrations increased the possibility of transferring the thalassemic genes to Europe and North America. A review of the pathophysiology and molecular basis of the thalassemias is presented in this paper. The obstetrics problems in B-Thalassemic tract pregnants as the various degree non iron dependent anemia and her complications in pregnancy and the risk of producing a homozygous child, are discussed. Hematological analysis (Hb, H, MCV, MCH, MCHC) of 141-B-Thalasemic trait pregnants and 129 normal controls in each trimester of pregnancy were performed. The carrier screening program and application of prenatal diagnosis with introducing in techniques of DNA analysis were shown. Diagnostic difficulties and trends in clinical management of thalassemic pregnants are discussed. The most frequent types of Greeks and Italians alleles were shown as well as the frequent mutations in 58 B-Thalassemia examined allels in Epirus.
Ginekol Pol 1998 Aug
PMID:The thalassemia syndromes and pregnancy, molecular basis, clinical aspects, prenatal diagnosis. 981 48

The oxidative stress status of the transfusion-dependent Ebeta- and beta-thalassemia patients were studied before and after treatment with vitamin E for a period of four weeks. The level of cellular vitamin antioxidants viz. ascorbic acid and vitamin E in the thalassemia patients were found to be considerably lower compared to normal subjects. The activities of enzymatic antioxidants viz. catalase, glutathione peroxidase and glutathione reductase were found to be drastically reduced in untreated Ebeta- and beta-thalassemic patients when compared to normal subjects. However, the activity of superoxide dis-mutase was found to be increased in both types of untreated thalassemic patients when compared to normal individuals. An increase in superoxide dismutase and a decrease in catalase activity reflects the presence of a severe oxidative stress situation in the erythrocytes of the untreated transfusion dependent Ebeta- and beta-thalassemia patients. Changes in erythrocyte membrane protein pattern in untreated Ebeta- and beta-thalassemia patients when compared to normal erythrocyte further confirm the presence of continued oxidative stress in the ailing thalassemic erythrocytes. All these changes in the antioxidant status as well as the changes in the erythrocyte membrane proteins are ameliorated to considerable extent when the transfusion-dependent Ebeta- and beta-thalassemia patients were treated with vitamin E at a dose of 10 mg/kg/day for a period of four weeks. The patients during the treatment period did not exhibit any side effects and gained in body weight indicating a healthy status. The present study reveals that the lipophilic antioxidant vitamin E could be useful in the management of transfusion-dependant Ebeta- and beta-thalassemia patients.
Pol J Pharmacol
PMID:Attenuation of oxidative stress-induced changes in thalassemic erythrocytes by vitamin E. 1504 82

Synthesis of alpha-globin and alpha-globin subunits of hemoglobin occurs at high levels during erythrocyte differentiation in a tightly controlled and coordinated fashion. Expression of alpha-globin is a fascinatingly complex process which has been meticulously defined in several recent studies, from chromatin modifications to Pol II recruitment. Following this, alpha-globin transcripts are processed and stabilized by a protein complex which binds the 3' untranslated region. Transcription and stabilization contribute to high level expression of alpha-globin. However, translation of alpha-globin at levels exceeding alpha-globin expression damages cellular membranes and results in beta-thalassemia. It is, therefore, crucial that alpha-globin proteins are properly folded and stabilized, processes which are dependent on the presence of haem and AHSP. The exceedingly well-characterized process of alpha-globin expression elegantly illustrates the complex interaction of factors which are required to balance necessary high expression against the negative impacts of overexpression.
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PMID:Controlling alpha-globin: a review of alpha-globin expression and its impact on beta-thalassemia. 1876 27

During human development, the switch from foetal gamma- to adult beta-globin on chromosome 11p is not complete resulting in the residual gamma-globin expression in a modest subpopulation of erythrocytes termed "F-cells". Genetic determinants that are responsible for higher level of Hb F include various mutations within the beta-globin gene cluster as well as singular nucleotide polymorphisms in other loci associated with Hb F quantitative trait, and also epigenetic mechanisms. All these molecular conditions may drive to hereditary persistence of foetal haemoglobin (HPFH). Taking into account a morphologic criterion, HPFH is called pancellular (p-) HPFH, if the increased Hb F is distributed in a uniform fashion among all of the red cells. When the Hb F distribution is restricted, the syndrome is referred to as heterocellular (h-) HPFH. The Hb F persistence rarely occurs in healthy adults or accompanies certain hemoglobinopathies changing substantially phenotypic diversity of sickle cell disease and beta-thalassaemia.
Pol Merkur Lekarski 2011 Jan
PMID:[Genetically based states of elevated quantity of foetal haemoglobin (Hb F) in healthy individuals and patients]. 2154 48

Patients receiving red cell concentration regularly are liable to develop iron overload. The characteristic feature of this condition is higher than normal generalized iron depositing. Iron excess initially is deposited in the liver, reticuloendothelial system, and consequently in such organs as the heart and endocrine glands. Humans do not possess mechanisms to excrete the excess of this metal. Patients who have undergone long time hemotherapy develop manifestations of diabetes, liver cirrhosis or cardiomyopathy; the most common cause of death is heart failure. Posttransfusion iron overload is observed most often in patients with thalassemia, aplastic and hemolytic syndromes and with syderoplastic anemias. An interesting fact is that numerous and long time transfusions in patients with chronic bleeding do not results in iron overload. Each transfused unit of red cell concentrate delivers approximately 250 mg of iron, thus iron accumulation is an inevitable effect of long time red cell concentrate therapy. Excessive iron intake manifests clinically when the total iron level reaches 400-1000 mg/kg b.m. The clinical picture resulting from posttransfusion iron overload includes dark skin, liver cirrhosis and circulatory disorders in the form of arrhythmia and insufficiency (of left ventricle, particularly). Iron overload can be treated but it is better to prevent it by administering chelating drugs. These compounds have high affinity and specificity to iron. They eliminate it with urine in the form of a bound complex. The use of chelating drugs is recommended when around 20 red cell concentrate units have been transfused and the serum ferritin level is about 1000 microg/ml.
Pol Merkur Lekarski 2011 Mar
PMID:[Posttransfusion iron overload]. 2154 93