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Hereditary Elliptocytosis

Hereditary Elliptocytosis Research Fallback

⚠️ Fallback MONDO:0017319

Hereditary Elliptocytosis Research Fallback

Provider Attempt

  • timeout 180s just research-disorder falcon Hereditary_Elliptocytosis
  • Result: terminated by timeout (signal 15, exit 124) without producing a research artifact.

Manual Evidence Scope

Primary curation used the structured Orphanet record and cached PubMed sources:

  • ORPHA:288 for disease definition, inheritance, prevalence class, gene assertions, HPO phenotype frequencies, and cross-references.
  • PMID:27667160 for HE/HPP genotype-phenotype correlation, horizontal cytoskeletal association defects, RBC deformability/stability, peripheral smear, ektacytometry, sequencing, and severe transfusion-dependent presentations.
  • PMID:3748797 for a 38-case clinical/morphologic/biochemical HE series showing spectrin self-association defects, protein 4.1 deficiency, and decreased red-cell deformability.
  • PMID:9037349 for molecular-genetic review evidence on SPTA1, SPTB, EPB41/EL1, and rare GYPC/GPYC involvement.
  • PMID:30504335 for inherited red-cell membrane disorder management and splenectomy rationale in HS/HE.
  • PMID:3692477 for family evidence linking HE/HPP-spectrum variable expression to a shared spectrin self-association defect.

The resulting curation intentionally emphasizes direct disease-level evidence and avoids extrapolating unrelated hereditary spherocytosis or stomatocytosis management beyond the shared red-cell membrane structural-defect context explicitly stated in the cited sources.