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Features include always present findings: Elliptocytosis; and common findings: Decreased mean corpuscular volume. 5 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 2 | Decreased mean corpuscular volume, Ongoing breakdown of red blood cells (chronic hemolytic anemia) |
SPTB function has not been fully characterized.
Elliptocytosis 3 is associated with mutations in the SPTB gene on chromosome 14.
Genetic testing for SPTB is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature, 1 common feature.
No clinical trials have been registered for elliptocytosis 3.
94 publications have been identified in PubMed for elliptocytosis 3. Research spans Case Report / Case Series (71%), Review / Meta-Analysis (10%), and Epidemiology / Natural History (9%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 67 | 71% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:44 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Digestive system
1 |
Intermittent jaundice |
9 |
10% |
Disease patterns and progression | 8 | 9% |
Laboratory research | 5 | 5% |
Clinical study results | 4 | 4% |
Other research | 1 | 1% |
Srivatsa S (2026). [PMID: 41873734](https://pubmed.ncbi.nlm.nih.gov/41873734/). *Am J Med Qual*. [Clinical Trial Publication]
Agelebe E (2026). [PMID: 42047738](https://pubmed.ncbi.nlm.nih.gov/42047738/). *Ann Afr Med*. [Case Report / Case Series]
Chakraborty A (2026). [PMID: 42054241](https://pubmed.ncbi.nlm.nih.gov/42054241/). *J Pediatr Hematol Oncol*. [Epidemiology / Natural History]
Wilson RM (2026). [PMID: 42148253](https://pubmed.ncbi.nlm.nih.gov/42148253/). *Eur Heart J Case Rep*. [Case Report / Case Series]
Terzi K (2026). [PMID: 42190725](https://pubmed.ncbi.nlm.nih.gov/42190725/). *Klin Padiatr*. [Case Report / Case Series]
Ciurej A (2026). [PMID: 41925069](https://pubmed.ncbi.nlm.nih.gov/41925069/). *Pediatr Blood Cancer*. [Case Report / Case Series]
Bentivegna E (2026). [PMID: 41552786](https://pubmed.ncbi.nlm.nih.gov/41552786/). *Respiratory medicine case reports*. [Case Report / Case Series]
McKenzie B (2026). [PMID: 41802785](https://pubmed.ncbi.nlm.nih.gov/41802785/). *BMJ open*. [Epidemiology / Natural History]
Miyahara M (2026). [PMID: 42132543](https://pubmed.ncbi.nlm.nih.gov/42132543/). *J Dev Behav Pediatr*. [Case Report / Case Series]
Pérez-Nieto OR (2026). [PMID: 42112500](https://pubmed.ncbi.nlm.nih.gov/42112500/). *Respir Med Case Rep*. [Case Report / Case Series]