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Adult-onset beta-thalassaemia intermedia caused by a 5-Mb somatic clonal segmental deletion in haemopoietic stem cells involving the β-globin locus.
Traeger-Synodinos J, Bosch CAJ, Vrettou C, Maragoudaki L, Apostolidis J, Kanavakis E, Kattamis C, Arkesteijn SGJ, Hoffer MJV, Ruivenkamp CAL, Harteveld CL. Traeger-Synodinos J, et al. Among authors: harteveld cl. Br J Haematol. 2019 Sep;186(6):e165-e170. doi: 10.1111/bjh.16043. Epub 2019 Jun 17. Br J Haematol. 2019. PMID: 31206601 Free article. No abstract available.
A case of non-beta-globin gene linked beta thalassaemia in a Dutch family with two additional alpha-gene defects: the common -alpha3.7 deletion and the rare IVS1-116 (A-->G) acceptor splice site mutation.
Giordano PC, Harteveld CL, Haak HL, Batelaan D, van Delft P, Plug RJ, Emonts M, Zanardini R, Bernini LF. Giordano PC, et al. Among authors: harteveld cl. Br J Haematol. 1998 Nov;103(2):370-6. doi: 10.1046/j.1365-2141.1998.00999.x. Br J Haematol. 1998. PMID: 9827907 Free article.
Alpha-thalassaemia.
Bernini LF, Harteveld CL. Bernini LF, et al. Among authors: harteveld cl. Baillieres Clin Haematol. 1998 Mar;11(1):53-90. doi: 10.1016/s0950-3536(98)80070-x. Baillieres Clin Haematol. 1998. PMID: 10872473 Review.
175 results