Article
Hb Marineo [beta70(E14)Ala-->Val]: a silent hemoglobin variant with a mutation within the heme pocket.
Hemoglobin - 1 Jan 2006
Giambona Antonino, Vinciguerra Margherita, Cassarà Filippo, Li Muli Rita, Leto Filippo, Passarello Cristina, Wajcman Henri, Maggio Aurelio
Abstract excerpt
We report a new hemoglobin (Hb) variant, Hb Marineo [beta70(E14)Ala --> Val], found in three generations of a family from West Sicily. The mutation is due to a GCC --> GTC substitution at codon 70 of the beta-globin gene. To date, three mutations at codon 70 of the beta-globin gene have been described, presenting with hemolytic anemia. In our case, no anemia or other alteration of hematological indices were...
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