β-Thalassemia Major Resulting from Compound Heterozygosity for HBB: c.92+2T>C [formerly known as IVS-I-2 (T>C)] and a Novel β⁰-Thalassemia Frameshift Mutation: HBB: c.209delG; p.Gly70Valfs*20

Michelle L. KlugeDepartment of Laboratory Medicine and Pathology, Metabolic Hematology Laboratory, Mayo Clinic Rochester, MinnesotaUSACorrespondence[email protected]

James D. HoyerDepartment of Laboratory Medicine and Pathology, Metabolic Hematology Laboratory, Mayo Clinic Rochester, MinnesotaUSA

Kenneth C. SwansonDepartment of Laboratory Medicine and Pathology, Metabolic Hematology Laboratory, Mayo Clinic Rochester, MinnesotaUSA

Jennifer L. OliveiraDepartment of Laboratory Medicine and Pathology, Metabolic Hematology Laboratory, Mayo Clinic Rochester, MinnesotaUSA

References

Patrinos GP, Giardine B, Riemer C, et al. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res. 2004;32(Database issue):D537–D541 (http://globin.cse.psu.edu/hbvar/menu.html)
PubMed Web of Science ®Google Scholar
Oliveira JL, Swanson K, Wendt P, et al. Hb Cambridge-MA [β144(HC1)-β146(HC3)Lys-Tyr-His→0 (HBB: c.433 A>T)]: A new high oxygen affinity variant. Hemoglobin. 2010;34(6):565–571
PubMed Web of Science ®Google Scholar
Konialis C, Hagnefelt B, Sevastidou S, et al. A novel β0-thalassemia frameshift mutation: [HBB: c.216delT]. Hemoglobin. 2012;36(6):586–588
PubMed Web of Science ®Google Scholar
Angalena R, Aggarwal S, Phadke SR, Dalal A. Compound heterozygote condition in β thalassemia major due to a novel single nucleotide deletion (–T) at codon 69 in association with IVS 1-5 (G>C) mutation. Int J Lab Hematol. 2012;34(4):e7–e9
Web of Science ®Google Scholar
Yu N, Kim HR, Cha YJ, Park EK. A novel frameshift mutation at codon 66 (HBB: c.del201A) in the β-globin gene leads to β-thalassemia. Ann Hematol. 2011;90:243–244
PubMed Web of Science ®Google Scholar

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β-Thalassemia Major Resulting from Compound Heterozygosity for HBB: c.92+2T>C [formerly known as IVS-I-2 (T>C)] and a Novel β⁰-Thalassemia Frameshift Mutation: HBB: c.209delG; p.Gly70Valfs*20

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β-Thalassemia Major Resulting from Compound Heterozygosity for HBB: c.92+2T>C [formerly known as IVS-I-2 (T>C)] and a Novel β0-Thalassemia Frameshift Mutation: HBB: c.209delG; p.Gly70Valfs*20

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β-Thalassemia Major Resulting from Compound Heterozygosity for HBB: c.92+2T>C [formerly known as IVS-I-2 (T>C)] and a Novel β⁰-Thalassemia Frameshift Mutation: HBB: c.209delG; p.Gly70Valfs*20