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)

Twenty-five patients with homozygous beta-thalassemia, who complained of occasional nonhemolytic transfusion reactions (NHTR), were alternately transfused eight times with normal packed red cells (PRC) and leucocyte-poor blood prepared by three methods: cotton wool filtration (CWF), buffy coat removal after dilution with saline and upright spin (BCR), and microaggregate filtration (MAF). On overall, CWF-treated RBC concentrates (CWF-RBC) contained 0.02 x 10(9) leucocytes; BCR-RBC contained 0.4 x 10(9), MAF-RBC 1.3 x 10(9) and PRC 1.7 x 10(9). The frequencies of NHTR were: CWF, 0.02; BCR, 0.04; MAF, 0.20; PRC, 0.28. Compared to PRC, both CWF and BCR significantly reduced the frequency of NHTR (p less than 0.01), whilst MAF did not (p greater than 0.1). On the other hand, in one patient CWF caused the two most severe NHTR recorded in this study, both of which were characterized by anaphylaxis.
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PMID:Prevention of non-hemolytic transfusion reactions with leucocyte-poor blood: a prospective study. 251 Oct 98

A constitutional, balanced chromosomal translocation t(11;22)(p15.5;q11.21) was discovered in a tall young man during investigation of a red cell dimorphism. The red cells are predominantly normochromic and normocytic with a small population of hypochromic, microcytic cells. Contained within the regions involved in the translocation are determinants of height (IGF2:11p15.5), red cell haemoglobinization (non-alpha globin gene complex: 11p15.5) and oncogenesis (cHa-Ras-1, Beckwith-Wiedemann syndrome: 11p15.5; BCR, Burkitts lymphoma, Ewings sarcoma: 22q11.21). To map these regions in the patient, somatic cell hybrids were generated and cell lines that segregated the chromosomes 11, 22 and 22q- were obtained. All 11p15.5 sequences investigated, in particular the whole of the non-alpha globin gene complex including its 5' and 3' regulatory sequences, were found to be translocated to 22q-. All chromosome 22 sequences studied were missing from the 22q- cell lines, including the proximal anonymous marker D22S24, and therefore assumed to be translocated to 11p+. These results suggest that the non-alpha globin gene complex has been moved close to the centromeric region of chromosome 22q-. It is postulated that such a positioning subjects the complex to a variegated position-effect bringing about a clonal exclusion of the complex and thus producing a beta-thalassaemia trait mosaic.
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PMID:Red cell dimorphism in a young man with a constitutional chromosomal translocation t(11;22)(p15.5;q11.21). 794 83