Article
A single nucleotide polymorphism in the HBBP1 gene in the human β-globin locus is associated with a mild β-thalassemia disease phenotype.
Hemoglobin - 1 Jan 2012
Giannopoulou Emily, Bartsakoulia Marina, Tafrali Christina, Kourakli Alexandra, Poulas Konstantinos, Stavrou Eleana F, Papachatzopoulou Adamantia, Georgitsi Marianthi, Patrinos George P
Abstract excerpt
The rs2071348 (g.5264146A>C) polymorphism on the HBB pseudogene, namely HBBP1, previously emerged as a variant significantly associated with a milder disease phenotype in Asian β(0)-thalassemia/hemoglobin (Hb) E (β(0)-thal/Hb E [β26(B8)Glu→Lys, GAG>AAG]) patients. In this study, we aimed to explore the possible association of rs2071348 with β-thalassemia (β-thal) disease severity in a group of β-thal major (β-TM)...
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