CASE REPORT   

Minerva Medica 2001 February;92(1):57-60

Copyright © 2001 EDIZIONI MINERVA MEDICA

language: English

Molecular characterization of a rare hemo-globin variant: Hb-Hinsdale: b 139 (H17) ASN-Lys

Degani V., Leone D., Murtas R., De Angelis S., Rabino-Massa E.

The authors describe the characteristics of a rare hemoglobin mutant found in a young female. She carries the aminoacid replacement of Hb-Hinsdale: b 139 (H 17) AsnÆLys, which was identified at molecular level. This case, clinically and hematologically symptomless, is identical, but genetically independent, to the cases first described in an American family.