IRON overload is characterized by an increase of reserve iron in the body. As a screening test for the presence of such increased iron reserves the determination of the serum iron concentration and the percentage saturation of the iron-binding protein ( s i d e r o p b , transferrin) is
An identical chromosome abnormality was observed in three unrelated patients with meylofibrosis and myeloid metaplasia, two of the patients showing a history of polycythaemia vera (PV) before development of the myelofibrosis. Unstimulated peripheral blood cultures showed a translocation between chromosomes 1 and 7 replacing a homologue of pair 7. It was identified by G- and C-banding as t(1;7)(7pter leads to 7p11::1p1? leads to 1qter). While the first patient also showed trisomy 21 and the third patient had some extra material on the short arm of chromosome 17, all three had trisomy 1q and monosomy 7q. Although each of these abnormalities is frequently observed separately in various haematological disorders, the combination of the two in the form of an identical translocation in three patients is an example of induced non-random cytogenetic change in myelofibrosis.
We report the characterization of a new hemoglobin variant having a single amino acid substitution (Lys----Thr) at position 61 of the alpha chain. In addition to the structural analysis, we also describe the strategy used for the identification of the base substitution and the localization of the defect at the gene level using polymerase chain reaction and hybridization with allele-specific oligonucleotides.
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