Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis

Omar Niss, Satheesh Chonat, Neha Dagaonkar, Marya O. Almansoori, Karol Kerr, Zora R. Rogers, Patrick T. McGann, Maa Ohui Quarmyne, Mary Risinger, Kejian Zhang, Theodosia A. Kalfa

Research output: Contribution to journalArticlepeer-review

44 Scopus citations


Hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) are heterogeneous red blood cell (RBC) membrane disorders that result from mutations in the genes encoding α-spectrin (SPTA1), β-spectrin (SPTB), or protein 4.1R (EPB41). The resulting defects alter the horizontal cytoskeletal associations and affect RBC membrane stability and deformability causing shortened RBC survival. The clinical diagnosis of HE and HPP relies on identifying characteristic RBC morphology on peripheral blood smear and specific membrane biomechanical properties using osmotic gradient ektacytometry. However, this phenotypic diagnosis may not be readily available in patients requiring frequent transfusions, and does not predict disease course or severity. Using Next-Generation sequencing, we identified the causative genetic mutations in fifteen patients with clinically suspected HE or HPP and correlated the identified mutations with the clinical phenotype and ektacytometry profile. In addition to identifying three novel mutations, gene sequencing confirmed and, when the RBC morphology was not evaluable, identified the diagnosis. Moreover, genotypic differences justified the phenotypic differences within families with HE/HPP.

Original languageEnglish (US)
Pages (from-to)4-9
Number of pages6
JournalBlood Cells, Molecules, and Diseases
StatePublished - Oct 1 2016


  • Elliptocytosis
  • Hemolytic anemia
  • Mutation
  • Pyropoikilocytosis
  • Red blood cell membrane

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Hematology
  • Cell Biology


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