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Panminerva Medica 2001 Giugno;43(2):135-8

lingua: Inglese

Direct DNA analysis in a new Italian carrier of Hb-Belfast: β 15 (A12) Trp→Arg

Scimè-Degani V., Ivaldi G. *, Baffico M. *, Leone D. *, Parodi M. *, Pascotto D. *, Garofalo F. **, Rabino-Massa E. ***

From the Analysis Laboratory, Regina Margherita Children Hospital, Turin
*The Human Genetics and Microcytemia Laboratory, Galliera Hospital, Genoa
**The Microcytemias Center, Regina Margherita Children Hospital, Turin
***Department of Animal Biology, Anthropology Laboratory, University of Turin, Turin, Italy


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A ­young ­woman ­aged 21 was ­found to be a new car­rier of Hb-Belfast: β 15 (A 12) Trp-Arg, and the char­ac­ter­is­tics of her hemo­glob­i­nop­athy ­were not dif­ferent ­from ­those of the ­four ­cases so far ­described: ­mild hemol­ysis ­with molec­ular ­instability of the ­abnormal Hb, red ­cells inclu­sion ­bodies, and ­slight alter­a­tions of ­some func­tional param­e­ters of ­whole ­blood. On ­this occa­sion, ­direct DNA anal­ysis indi­cated the ­genomic nucle­o­tide replace­ment of the dis­ease: TGG-AGG. This was inherited by the ­mother, orig­i­nating ­from Bari (Apulia).

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