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)

A 16-year old Liberian female presented with sudden monocular blindness. Physical examination and laboratory investigations were normal except that the patient had homozygous B-Thalassemia (HbA 58%, HbF 5% and HbA2 7.0%). Family study revealed that both parents had B-Thalassemia trait. We feel that the association of sudden monocular blindness with homozygous B-Thalassemia which has not been reported before, is not fortuitous but causal. It is therefore suggested that homozygous B-Thalassemia be added to the list of haemoglobinopathies (HbAS, SS and SC) that have been reported to cause blindness as complication.
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PMID:Sudden monocular blindness associated with homozygous B-thalassemia in a young Liberian. 239 Sep 61

We describe our experience at University College Hospital, London, with the first 135 patients submitted to midtrimester fetal blood sampling for antenatal diagnosis of beta-thalassaemia major, other thalassaemias and homozygous sickle cell disease. Blind needling and fetoscopy with sampling are evaluated and their application discussed. With experienced operators 9 per cent of patients experienced a fetal loss.
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PMID:Obstetric aspects of midtrimester fetal blood sampling by needling or fetoscopy. 736 8

Cyclosporin A (CsA) has been shown to be useful in the prophylaxis of acute graft-versus-host-disease (GVHD). However, this immunosuppressive agent produces multiple side-effects including nephrotoxicity, hypertension, hypertricosis, gum hyperplasia, infections, and neurotoxicity. We report a retrospective analysis of neurotoxicity in 625 recipients transplanted for thalassemia and given CsA as part of GVHD prophylaxis. Neurotoxicity consisted in mental status changes, tremor, headache (grade 1), visual disturbance and cortical blindness (grade 2) and seizures and coma (grade 3). The overall toxicity was 28.8% and the incidence of convulsions was 10.1%. Neurological findings were reversible after temporary reduction or discontinuation of CsA. Class 3 patients, when prepared with protocol 6 (Bu 14 + Cy 200 and CsA for GVHD) or when they developed acute GVHD, had the highest risk of convulsions. Age, sex, different conditioning regimens, different anticonvulsive prophylaxis, liver damage due to iron-overload and/or to chronic inflammation did not influence the occurrence of CsA-related CNS toxicity. The occurrence of acute GVHD with concomitant use of high-dose corticosteroids is the single significant predisposing factor in the occurrence of convulsions. Grades 1 and 2 of neurotoxicity occurred earlier and were not influenced even by acute GVHD.
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PMID:CsA-associated neurotoxicity and ineffective prophylaxis with clonazepam in patients transplanted for thalassemia major: analysis of risk factors. 883 9

A simple, fast, and highly reproducible protocol for detection of the three most common deletional alpha-thalassemias (- -SEA, - alpha3.7, -alpha4.2) using an oligonucleotide microarray was developed. PCR products were directly hybridized to the microarrays with different deletion-specific probes. Genotypes were determined by quantitative analysis of the fluorescent signals detected by fluorescence scanning. Blind assays on 400 samples validated the efficiency and specificity of the protocol. This method may be suitable for routine clinical use and population screening for deletional alpha-thalassemia.
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PMID:Rapid detection of deletional alpha-thalassemia by an oligonucleotide microarray. 1631 59

Liver diseases including inherited metabolic disorders, chronic viral hepatitis, liver cirrhosis and primary and metastatic liver cancer constitute a formidable health problem because of their high prevalence and the important limitations of current therapies. Gene therapy, a procedure based on the transfer of therapeutic genes to tissues, has been used since the 1990s as a new approach to treating a number of incurable conditions. After a period of lights and shades recent success in treating several devastating diseases like inherited immune deficiency disorders, beta-thalassemia, or inherited blindness appear to herald a new era where gene therapy can be listed among standard therapy options for a wide variety of human conditions. In this review, we provide information illustrating the potentiality of gene therapy in the management of liver diseases lacking other effective therapies.
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PMID:Gene therapy of liver diseases: a 2011 perspective. 2177 33

Advancement in the gene delivery system have resulted in clinical successes in gene therapy for patients with several genetic diseases, such as immunodeficiency diseases, X-linked adrenoleukodystrophy (X-ALD) blindness, thalassemia, and many more. Among various delivery systems, liposomal mediated gene delivery route is offering great promises for gene therapy. This review is an attempt to depict a portrait about the polymer based liposomal gene delivery systems and their future applications. Herein, we have discussed in detail the characteristics of liposome, importance of polymer for liposome formulation, gene delivery, and future direction of liposome based gene delivery as a whole.
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PMID:Recent trends of polymer mediated liposomal gene delivery system. 3148 46

The prevalence of primary congenital glaucoma (PCG) in Saudi Arabia is high and the condition is a cause of childhood blindness in the country. Children often present with severe disease, requiring multiple procedures and a lifetime of medical care. The social and economic burden of the condition is substantial. Presently, the mainstay of management is early diagnosis and treatment of PCG. Premarital screening, especially in recessive diseases, such as PCG can be immensely useful by detecting the presence of a defect in the causative gene, followed by genetic counseling to potential couples that will lead to eradication of the disease in future generations. The introduction of a national screening program similar to the one already functioning for thalassemia, could potentially eliminate childhood blindness from PCG in Saudi Arabia and is likely to prove cost-effective.
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PMID:Eradicating primary congenital glaucoma from Saudi Arabia: The case for a national screening program. 2923 27