RecruitingNCT07206095
Blood
Hereditary Spherocytosis
Also known as HS, Minkowski-Chauffard syndrome, congenital spherocytic hemolytic anemia
Hereditary spherocytosis is the most common inherited hemolytic anemia in Northern Europeans, caused by mutations in genes encoding red blood cell membrane skeletal proteins including ankyrin-1 (ANK1), alpha-spectrin (SPTA1), beta-spectrin
ORPHA:822 ↗Gene ANK1Gene SPTA1Gene SPTBGene SLC4A1Prevalence 1 in 2,000 in Northern European populations; less common in other ethnicitiesOnset Often detected at birth or in infancy; may present in adulthoodAutosomal dominant (75%); autosomal recessive (25%)
2
studies recruiting now
as of 7 Sept 2026
9
studies registered in total
as of 7 Sept 2026
2
countries with a recruiting site
as of 7 Sept 2026
3 Oct 2025
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT06418256
Physiology and Pathologies Linked to Human Splenic Function : Direct and Ex-vivo Perfusion Explorations
Showing the 2 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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About Hereditary Spherocytosis
Hereditary spherocytosis is the most common inherited hemolytic anemia in Northern Europeans, caused by mutations in genes encoding red blood cell membrane skeletal proteins including ankyrin-1 (ANK1), alpha-spectrin (SPTA1), beta-spectrin (SPTB), and band 3 (SLC4A1), leading to defective membrane anchorage and progressive loss of membrane surface area. The resulting spherocytic red cells are osmotically fragile and preferentially trapped and destroyed in the spleen, causing chronic hemolytic anemia of variable severity, splenomegaly, and gallstone formation. Splenectomy effectively eliminates hemolysis but carries lifelong risks of sepsis from encapsulated organisms.
Common clinical features
Chronic hemolytic anemia with variable severity (mild to severe)Neonatal jaundice requiring phototherapySplenomegaly often detectable by physical examinationPallor and fatigue proportional to degree of anemiaCholelithiasis with pigmented gallstonesAplastic crisis precipitated by parvovirus B19 infectionOsmotic fragility on eosin-5-maleimide (EMA) binding testOccasional leg ulcers and extramedullary hematopoiesis in severe cases
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Hereditary Spherocytosis. Not eligibility rules; those are set by each study.
- Diagnosis confirmation by EMA binding test, osmotic fragility test, or peripheral blood smear showing spherocytes, along with negative direct antiglobulin test, is required to exclude autoimmune hemolytic anemia in trial screening.
- Splenectomy status is a major eligibility variable; post-splenectomy patients have near-normal hemoglobin but residual laboratory abnormalities; pre-splenectomy patients may qualify for trials evaluating alternatives to splenectomy.
- Severity classification (mild, moderate, severe based on hemoglobin and bilirubin levels) and any identified gene mutation help match patients to appropriate investigational studies.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).