Article
Thalassemia-like phenotype in a novel complex hemoglobinopathy with α, β, δ globin chain abnormalities.
Journal of pediatric hematology/oncology - 1 Dec 2011
Sabio Hernan, Dixon Natalia, Patel Niren, Obiaga Chinwe, Zhuang Lina, Meiler Steffen E, Kutlar Abdullah, Kutlar Ferdane
Abstract excerpt
The occurrence of multiple abnormalities of α, β, δ, and γ globin genes may lead to unusual and complex phenotypes when they arise simultaneously in the same individual. Here, we report the findings of an African American boy who coinherited 3 heterozygous globin gene abnormalities: the unstable β-globin chain variant; hemoglobin (Hb) Showa-Yakushiji [β110(G12) Leu→Pro], the δ-globin chain variant; HbB2 [δ16(A13)...
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