Molecular hemoglobinopathies

Tina Y. Fodrie, Shaobo Zhang, Mina Patel, Jodi A. Parks, Liang Cheng

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Molecular methods are used to identify genetic mutations associated with abnormal hemoglobin structure and/or function, commonly referred to as hemoglobinopathies. Mutations associated with hemoglobinopathies are divided into three main categories: (1) qualitative mutations, (2) quantitative mutations, and (3) hereditary persistence of fetal hemoglobin (HPFH). This chapter details the characteristics associated with each disorder as well as clinical presentation, molecular pathogenesis, common laboratory findings, and the molecular methods used to identify these mutations.

Original languageEnglish
Title of host publicationMolecular Genetic Pathology: Second Edition
PublisherSpringer New York
Pages975-991
Number of pages17
ISBN (Print)9781461448006, 1461447992, 9781461447993
DOIs
StatePublished - Mar 1 2014

Fingerprint

Hemoglobinopathies
Mutation
Abnormal Hemoglobins
Fetal Hemoglobin

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Fodrie, T. Y., Zhang, S., Patel, M., Parks, J. A., & Cheng, L. (2014). Molecular hemoglobinopathies. In Molecular Genetic Pathology: Second Edition (pp. 975-991). Springer New York. https://doi.org/10.1007/978-1-4614-4800-6-37

Molecular hemoglobinopathies. / Fodrie, Tina Y.; Zhang, Shaobo; Patel, Mina; Parks, Jodi A.; Cheng, Liang.

Molecular Genetic Pathology: Second Edition. Springer New York, 2014. p. 975-991.

Research output: Chapter in Book/Report/Conference proceedingChapter

Fodrie, TY, Zhang, S, Patel, M, Parks, JA & Cheng, L 2014, Molecular hemoglobinopathies. in Molecular Genetic Pathology: Second Edition. Springer New York, pp. 975-991. https://doi.org/10.1007/978-1-4614-4800-6-37
Fodrie TY, Zhang S, Patel M, Parks JA, Cheng L. Molecular hemoglobinopathies. In Molecular Genetic Pathology: Second Edition. Springer New York. 2014. p. 975-991 https://doi.org/10.1007/978-1-4614-4800-6-37
Fodrie, Tina Y. ; Zhang, Shaobo ; Patel, Mina ; Parks, Jodi A. ; Cheng, Liang. / Molecular hemoglobinopathies. Molecular Genetic Pathology: Second Edition. Springer New York, 2014. pp. 975-991
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