sickle cell disease
Findings
No curated finding names sickle cell disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.
Definition from the Mondo Disease Ontology (MONDO:0011382), read 2026-09-29. CC BY 4.0.
Features
38 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Chronic hemolytic anemiaHPOHP:0004870
- Obligate (100% of cases)
- Hemolytic anemiaHPOHP:0001878
- Very frequent (80% to 99% of cases)
- PainHPOHP:0012531
- Very frequent (80% to 99% of cases)
- Recurrent infectionsHPOHP:0002719
- Very frequent (80% to 99% of cases)
- Abnormality of the spleenHPOHP:0001743
- Frequent (30% to 79% of cases)
- Avascular necrosisHPOHP:0010885
- Frequent (30% to 79% of cases)
- Chest painHPOHP:0100749
- Frequent (30% to 79% of cases)
- Chronic kidney diseaseHPOHP:0012622
- Frequent (30% to 79% of cases)
- Increased total leukocyte countHPOHP:0001974
- Frequent (30% to 79% of cases)
- Iron deficiency anemiaHPOHP:0001891
- Frequent (30% to 79% of cases)
- JaundiceHPOHP:0000952
- Frequent (30% to 79% of cases)
- OsteomyelitisHPOHP:0002754
- Frequent (30% to 79% of cases)
Show the remaining 26
- OsteoporosisHPOHP:0000939
- Frequent (30% to 79% of cases)
- Pigment gallstonesHPOHP:0011981
- Frequent (30% to 79% of cases)
- ReticulocytosisHPOHP:0001923
- Frequent (30% to 79% of cases)
- RetinopathyHPOHP:0000488
- Frequent (30% to 79% of cases)
- ThrombocytosisHPOHP:0001894
- Frequent (30% to 79% of cases)
- Abnormality of the nervous systemHPOHP:0000707
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HBBHGNC:4827
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: sickle cell disease
- Also called
- Haemoglobin S disease without crisisHb-S/Hb-C diseasesickle cell anemiasickle-cell/Hb-C disease without crisissickling disorder due to Haemoglobin Ssickling disorder due to Hemoglobin S