HEMOGLOBIN-AGENOGI [BETA-90(F6)GLU-]LYS] FOUND IN PIEDMONT - CASE-REPORT

An electrophoretically slow-moving hemoglobin, with abnormal beta chai ns, 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 impo rtant clinical manifestations, although characterized by decreased oxy gen 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.