Molecular characterization of a rare hemoglobin variant: Hb-Hinsdale: beta139(H17)ASN-->Lys.
The authors describe the characteristics of a rare hemoglobin mutant found in a young female. She carries the aminoacid replacement of Hb-Hinsdale:beta139(H17)ASN-->Lys, 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.
Degani
V
V
Laboratorio di Ematologia, Ospedale Infantile Regina Margherita, Università degli Studi, Torino, Italy.
Leone
D
D
Murtas
R
R
De Angelis
S
S
Rabino-Massa
E
E
D001216:Asparagine / Q000235:genetics; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008239:Lysine / Q000235:genetics; D017354:Point Mutation
D006455:Hemoglobins, Abnormal; C062069:hemoglobin Hinsdale; D001216:Asparagine; D008239:Lysine