Molecular hemoglobinopathies

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

Research output: Chapter in Book/Report/Conference proceedingChapter


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 (US)
Title of host publicationMolecular Genetic Pathology
Subtitle of host publicationSecond Edition
PublisherSpringer New York
Number of pages17
ISBN (Electronic)9781461448006
ISBN (Print)1461447992, 9781461447993
StatePublished - Mar 1 2013


ASJC Scopus subject areas

  • Medicine(all)

Cite this

Fodrie, T. Y., Zhang, S., Patel, M., Parks, J. A., & Cheng, L. (2013). Molecular hemoglobinopathies. In Molecular Genetic Pathology: Second Edition (Vol. 9781461448006, pp. 975-991). Springer New York.