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The hemoglobinopathies encompass a heterogeneous group of disorders associated with mutations in both the alpha-globin (HBA) and beta-globin (HBB) genes. Sickling disorders are characterized by structural variants resulting from substitution of one or more amino acids in the globin chains of the hemoglobin molecule, while thalassemias are characterized by the absence or reduction in output of one or more globin chains of the hemoglobin molecule.  

 

http://www.ncbi.nlm.nih.gov/gene/3043

http://www.ncbi.nlm.nih.gov/omim/141900,603903,141900,603903

http://www.ncbi.nlm.nih.gov/books/NBK1377/