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