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References

These sources were used to develop the Genetics Home Reference gene summary on the HBB gene.

Ashley-Koch A, Yang Q, Olney RS. Sickle hemoglobin (HbS) allele and sickle cell disease: a HuGE review. Am J Epidemiol. 2000 May 1;151(9):839-45. Review. PubMed citation
Bellelli A, Brunori M, Miele AE, Panetta G, Vallone B. The allosteric properties of hemoglobin: insights from natural and site directed mutants. Curr Protein Pept Sci. 2006 Feb;7(1):17-45. Review. PubMed citation
Cohen AR, Galanello R, Pennell DJ, Cunningham MJ, Vichinsky E. Thalassemia. Hematology Am Soc Hematol Educ Program. 2004:14-34. Review. PubMed citation
Entrez Gene
Flatz G, Sanguansermsri T, Sengchanh S, Horst D, Horst J. The 'hot-spot' of Hb E [beta26(B8)Glu-->Lys] in Southeast Asia: beta-globin anomalies in the Lao Theung population of southern Laos. Hemoglobin. 2004 Aug;28(3):197-204. PubMed citation
Fu XH, Liu DP, Liang CC. Chromatin structure and transcriptional regulation of the beta-globin locus. Exp Cell Res. 2002 Aug 1;278(1):1-11. Review. PubMed citation
Mahajan MC, Weissman SM. Multi-protein complexes at the beta-globin locus. Brief Funct Genomic Proteomic. 2006 Mar;5(1):62-5. Epub 2006 Feb 22. Review. PubMed citation
Nagel RL, Steinberg MH. Role of epistatic (modifier) genes in the modulation of the phenotypic diversity of sickle cell anemia. Pediatr Pathol Mol Med. 2001 Mar-Apr;20(2):123-36. Review. PubMed citation
Panigrahi I, Agarwal S. Genetic determinants of phenotype in beta-thalassemia. Hematology. 2008 Aug;13(4):247-52. doi: 10.1179/102453308X316031. PubMed citation
Park KW. Sickle cell disease and other hemoglobinopathies. Int Anesthesiol Clin. 2004 Summer;42(3):77-93. Review. PubMed citation
Sadelain M, Rivella S, Lisowski L, Samakoglu S, Rivière I. Globin gene transfer for treatment of the beta-thalassemias and sickle cell disease. Best Pract Res Clin Haematol. 2004 Sep;17(3):517-34. Review. PubMed citation
Schechter AN. Hemoglobin research and the origins of molecular medicine. Blood. 2008 Nov 15;112(10):3927-38. doi: 10.1182/blood-2008-04-078188. Review. PubMed citation
Stuart MJ, Nagel RL. Sickle-cell disease. Lancet. 2004 Oct 9-15;364(9442):1343-60. Review. PubMed citation
Thein SL. Genetic insights into the clinical diversity of beta thalassaemia. Br J Haematol. 2004 Feb;124(3):264-74. Review. PubMed citation


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