{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T15:02:21Z","timestamp":1761058941569},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2009,6,8]],"date-time":"2009-06-08T00:00:00Z","timestamp":1244419200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2009,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\u03b1\u2010Thalassaemia is a very rare disease in Northern Europe in contrast to hereditary spherocytosis that is associated with red blood cell membrane defects. We report here \u03b1\u2010thalassaemia case who was also found to bear the erythrocyte membrane protein 4.2 gene mutations. mRNA relative quantification of red cell membrane protein genes in a Polish patient with \u03b1\u2010thalassaemia trait indicated EPB42 as the gene that could also be involved in anaemia pathogenesis. Sequencing revealed the presence of two novel mutations in the protein 4.2 gene: a G1701A genetic change that predicts an alanine to threonine at position 567 of the protein (A567T) and a T\u2192A substitution that is located at position +6 of the donor splice site of intron 2 (IVS2nt+6T&gt;A). This is the sixth variant of the erythrocyte membrane protein 4.2 gene mutations identified outside the Japanese population.<\/jats:p>","DOI":"10.1111\/j.1600-0609.2009.01289.x","type":"journal-article","created":{"date-parts":[[2009,6,8]],"date-time":"2009-06-08T11:16:56Z","timestamp":1244459816000},"page":"373-377","source":"Crossref","is-referenced-by-count":4,"title":["The use of real\u2010time PCR technique in the detection of novel protein 4.2 gene mutations that coexist with thalassaemia alpha in a single 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