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Article

Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.

Blood cells, molecules & diseases - 1 Oct 2016

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

Abstract excerpt

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...

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Identifiers

PMID: 27667160
DOI: 10.1016/j.bcmd.2016.07.003
PMCID: PMC5098801

Genes

EPB41
SPTA1
SPTB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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