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

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Nikita Mehta, J. Martin Johnston, Molly Hein, Benjamin R. Kipp, Lea Coon, Michelle E. Savedra, James D. Hoyer, Rong He, Aruna Rangan, Min Shi & Jennifer L. Oliveira. (2020) Further Characterization of Hb Bronovo [α103(G10)His→Leu; HBA2: c.311A>T] and First Report of the Homozygous State. Hemoglobin 44:3, pages 174-178.
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Jennifer L Oliveira, Christineil H Thompson, Siva Arumugam Saravanaperumal, Tejaswi Koganti, Garrett Jenkinson, Molly S Hein, Mira A Kohorst, Linda Hasadsri, Phuong L Nguyen, Dietrich Matern, Benjamin R Kipp, Eric W Klee, Eric D Wieben, James D Hoyer & Aruna Rangan. (2023) εγ-Thalassemia, a New Hemoglobinopathy Category. Clinical Chemistry 69:7, pages 711-717.
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Aruna Rangan, Molly S. Hein, William G. Jenkinson, Tejaswi Koganti, Ross A. Aleff, Christopher A. Hilker, Joseph H. Blommel, Tavanna R. Porter, Kenneth C. Swanson, Patrick Lundquist, Phuong L. Nguyen, Min Shi, Rong He, David S. Viswanatha, Jin Jen, Eric W. Klee, Benjamin R. Kipp, James D. Hoyer, Eric D. Wieben & Jennifer L. Oliveira. (2021) Improved Characterization of Complex β-Globin Gene Cluster Structural Variants Using Long-Read Sequencing. The Journal of Molecular Diagnostics 23:12, pages 1732-1740.
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Aruna Rangan, Michelle E. Savedra, Camila Dergam‐Larson, Kenneth C. Swanson, Jessica Szuberski, Ronald S. Go, Tavanna R. Porter, Sarah E. Brunker, Min Shi, Phuong L. Nguyen, James D. Hoyer & Jennifer L. Oliveira. (2021) Interpreting sulfhemoglobin and methemoglobin in patients with cyanosis: An overview of patients with M‐hemoglobin variants. International Journal of Laboratory Hematology 43:4, pages 837-844.
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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