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Panminerva Medica 1998 September;40(3):250-3

Copyright © 2000 EDIZIONI MINERVA MEDICA

lingua: Inglese

Hemoglobin Agenogi [β 90 (F6) Glu→Lys] found in Piedmont. Case report

Scimè-Degani V., Ivaldi G.*, David O., De Paola M., Rabino-Massa E.**, Ricco G.***

From the Laboratory of Hematology Children Hospital Regina Margherita, Turin * Microcytemia Center, Galliera Hospital, Genoa ** Department of Animal Biology, Laboratory of Anthropology, University, Turin *** Department of Biomedical Sciences and Human Oncology, University of Turin, San Luigi Gonzaga Hospital, Orbassano (Turin), Italy


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An elec­tro­pho­ret­i­cal­ly slow-mov­ing hemo­glo­bin, with abnor­mal ­β chains, has been found in a young woman and in three mem­bers of her fam­i­ly. This var­i­ant amount­ed to 41% of the total Hb, and did not cause impor­tant clin­i­cal man­i­fes­ta­tions, ­although char­ac­ter­ized by ­decreased oxy­gen affin­ity. Structural and ami­no­ac­id anal­y­ses ­revealed the muta­tion of Hb-Agenogi: 90 (F6) Glu → Lys, a rare var­i­ant so far detect­ed in unre­lat­ed ­racial and eth­nic ­groups. This is the first affect­ed fam­i­ly of ascer­tained Piedmontese ances­try.

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