What's hereditary spherocytosis?
Hereditary spherocytosis is an inherited blood condition in which the red blood cells' outer membrane is faulty, so the cells lose their normal flexible disc shape and become small spheres. The spleen removes these fragile sphere-shaped cells early, causing ongoing breakdown of red cells (hemolysis). It is one of the more common inherited causes of hemolytic anemia.
| Also indexed as | OMIM:182900, MONDO:0008447 |
|---|---|
| Features mapped | 11 |
| Treatments mapped | 3 |
| Published sources | 15 |
| Last reviewed | 2026-08-04 |
Signs and symptoms
Hyperbilirubinemia
As red blood cells break down in hereditary spherocytosis, the body makes more bilirubin than usual, a yellow pigment that builds up in the blood. This excess bilirubin contributes to jaundice and to the formation of gallstones.
Splenomegaly
Hereditary spherocytosis is commonly marked by an enlarged spleen, known as splenomegaly, alongside anemia and jaundice. The spleen is where the abnormal red blood cells are trapped and destroyed.
Autosomal dominant inheritance
In most families the condition is autosomal dominant, so one altered gene copy is enough and each child of an affected parent has roughly a 1 in 2 chance. Some less common forms are recessive, needing two altered copies.
Jaundice
Jaundice, a yellowing of the skin and the whites of the eyes, is a common feature of hereditary spherocytosis. It happens as red blood cells break down and release bilirubin.
Cholelithiasis
The extra bilirubin from red-cell breakdown can form pigment gallstones (cholelithiasis), even in children and young adults. Gallstones are a frequent complication and may need removal of the gallbladder if they cause symptoms.
Hemolytic anemia
Because fragile red cells are destroyed faster than the body replaces them, people develop anemia (too few red blood cells), which can cause tiredness and pallor. The degree of anemia varies a lot between people.
Increased red cell osmotic fragility
Because the sphere-shaped cells have little spare membrane, they burst more easily when placed in dilute salt solution. This increased osmotic fragility is one of the laboratory tests historically used to support the diagnosis.
Reticulocytosis
Because red cells are being destroyed faster than normal, the bone marrow in hereditary spherocytosis works overtime and releases extra young red cells (reticulocytes) into the blood. A high reticulocyte count is a key sign that the body is compensating for ongoing hemolysis.
Spherocytosis
Under the microscope, a blood film shows spherocytes, small round red cells without the usual pale center. Seeing these sphere-shaped cells is a key clue to the diagnosis.
Negative direct antiglobulin (Coombs) test
A negative direct antiglobulin (Coombs) test is an important clue in hereditary spherocytosis. Spherocytes can also appear in autoimmune hemolytic anemia, but that condition gives a positive Coombs test, so a negative result points toward the inherited form.
Transient aplastic crisis
In hereditary spherocytosis, infection with parvovirus B19 is the main cause of a transient aplastic crisis, when the bone marrow briefly stops making red blood cells and the hemoglobin level drops sharply. This often requires hospital care and a transfusion.
How it is diagnosed
Spherocytosis, type 1
Diagnosed using: eosin-5'-maleimide (EMA) binding test by flow cytometry.
“…eosin-5-maleimide (EMA) binding by flow cytometry was positive in 41 cases (sensitivity 87.2%), detecting all cases missed or equivocal on iOFT and demonstrating superior diagnostic yield.”
Spherocytosis, type 1
Diagnosed using: osmotic fragility test.
“Positive rate of osmotic fragility test was 86.8% among patients harboring HS-related gene mutations.”
Spherocytosis, type 1
Diagnosed using: next-generation sequencing five-gene panel (ANK1, EPB42, SLC4A1, SPTA1, SPTB).
“The combination of medical history, basic laboratory parameters, and an NGS panel with five genes is sufficient for diagnosis in most cases.”
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
splenectomy
Splenectomy, surgery to remove the spleen, is the standard treatment for hereditary spherocytosis. The spleen is where the fragile red blood cells are trapped and destroyed, so removing it lets red cells survive longer and eases the anemia, though it does not fix the underlying membrane defect.
Used to help with: Spherocytosis, type 1.
“Splenectomy effectively improves hemolytic…”
cholecystectomy
Cholecystectomy, surgery to remove the gallbladder, is one of the management options used in hereditary spherocytosis. It addresses the gallstones that often form because of the high bilirubin produced as red blood cells break down.
Used to help with: Spherocytosis, type 1.
“…current management strategies, including splenectomy, cholecystectomy, and endoscopic approaches for bile duct stones, are examined in the context of…”
packed red blood cell (PRBC) transfusion
Blood transfusions, giving red blood cells from a donor, are used to manage the anemia of hereditary spherocytosis. In one group of children with the condition most needed at least one transfusion, and a small number depended on them regularly.
Used to help with: Spherocytosis, type 1.
“Around 72.3% patients required at least one PRBC transfusion by the time of analysis, while 9 were transfusion dependent.”
How to read the evidence labels
Where this comes from
This guide is built from 15 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.
Take it further
Printed, source-linked documents built from this condition's graph — ready to bring to an appointment or attach to a coverage request. Every claim carries its published source, the same as this guide.