Article
Hb Dartmouth (HBA2: c.200T>C): An α2-Globin Gene Associated with Hb H Disease in One Homozygous Patient.
Hemoglobin - 1 Jan 2015
Farashi Samaneh, Faramarzi Garous Negin, Ashki Mehri, Vakili Shadi, Zeinali Fatemah, Imanian Hashem, Azarkeivan Azita, Najmabadi Hossein
Abstract excerpt
Hb H (β4) disease is caused by deletion or inactivation of three out of four α-globin genes. A high incidence of Hb H disease has been reported all over the world. There is a wide spectrum of phenotypic presentations, from clinically asymptomatic to having significant hepatosplenomegaly and requiring occasional or even regular blood transfusions, even more severe anemia, Hb Bart's (γ4) hydrops fetalis syndrome...
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