title: Hemoglobin Agenogi [beta 90 (F6) Glu-->Lys] found in Piedmont. Case report.
abstract: An electrophoretically slow-moving hemoglobin, with abnormal beta 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.
authors.affiliation: Laboratory of Hematology, Children Hospital Regina Margherita, Turin, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Scimè-Degani
authors.forename: G
authors.initials: G
authors.lastname: Ivaldi
authors.forename: O
authors.initials: O
authors.lastname: David
authors.forename: M
authors.initials: M
authors.lastname: De Paola
authors.forename: E
authors.initials: E
authors.lastname: Rabino-Massa
authors.forename: G
authors.initials: G
authors.lastname: Ricco
mesh_terms: D000328:Adult; D005260:Female; D018698:Glutamic Acid / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006801:Humans; D008239:Lysine / Q000235:genetics; D009154:Mutation
chemical_list: D006455:Hemoglobins, Abnormal; D018698:Glutamic Acid; C057245:hemoglobin Agenogi; D008239:Lysine