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Hereditary Spherocytosis

Inherited red cell membrane disorder producing spherical erythrocytes, hemolytic anemia, and splenomegaly.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Hematoloji department. Book Appointment →

What is Hereditary Spherocytosis?

Hereditary spherocytosis (HS) is an inherited red cell membrane disorder caused by mutations in genes encoding membrane skeleton proteins, most commonly ankyrin (ANK1, 50%), band 3 (SLC4A1, 25%), beta-spectrin (SPTB, 20%), alpha-spectrin (SPTA1) and protein 4.2 (EPB42). Most cases are autosomal dominant; severe forms may be autosomal recessive or compound heterozygous.

Membrane skeleton instability causes loss of membrane fragments, reduction of surface-to-volume ratio, and transformation of biconcave erythrocytes into spherocytes that are osmotically fragile and trapped in the splenic cords, leading to extravascular hemolysis. Severity varies from compensated mild anemia to severe transfusion-dependent disease, with chronic hemolysis driving jaundice, splenomegaly, gallstones, and rarely aplastic crises (parvovirus B19).

Diagnosis combines family history, peripheral blood smear (spherocytes, increased mean corpuscular hemoglobin concentration MCHC), reticulocytosis, indirect hyperbilirubinemia, and screening tests such as eosin-5-maleimide (EMA) flow cytometry, osmotic fragility, or acidified glycerol lysis. Genetic testing is reserved for ambiguous or severe cases. Management ranges from supportive care (folate, monitoring) to splenectomy in moderate-severe disease, with cholecystectomy when symptomatic gallstones develop. Prophylactic vaccination and antibiotic prophylaxis are required after splenectomy.

Symptoms

Anemia (mild to severe)
Jaundice (intermittent, can present in newborn period)
Splenomegaly
Pallor, fatigue
Gallstones (often pigment stones, even in childhood)
Aplastic crisis with parvovirus B19 (sudden severe anemia)
Hemolytic crisis (infection, fever, exertion)
Growth delay in severe form
Skeletal changes in chronic severe disease
Recurrent infections after splenectomy if not vaccinated
Right upper quadrant pain (cholecystitis)
Iron overload in transfused patients
Leg ulcers (rare)
Megaloblastic crisis if folate-deficient
Family history of anemia, jaundice, splenectomy, gallstones

Risk Factors

Family history of HS (autosomal dominant in most)
Northern European ancestry
Mutations in ANK1, SLC4A1, SPTB, SPTA1, EPB42
Compound heterozygous or recessive inheritance (severe forms)
Parvovirus B19 infection (aplastic crisis)
Folate deficiency (megaloblastic crisis)
Pregnancy (worsens anemia, hemolysis)
Acute infection (hemolytic flare)
Splenectomy delay despite indications
Untreated cholelithiasis
Lack of post-splenectomy vaccination

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Persistent jaundice or pallor in infant or child
  • Family history with new anemia or jaundice
  • Recurrent gallstone disease, especially in childhood
  • Sudden severe anemia (aplastic crisis)
  • Hemolytic crisis with fever
  • Growth or developmental delay with chronic anemia
  • Pregnancy with known HS for hematologic care
  • Post-splenectomy fever (overwhelming sepsis concern)

Treatment Methods

01
Hematology referral for evaluation
02
CBC, reticulocyte count, peripheral smear (spherocytes, MCHC elevated)
03
Indirect bilirubin, LDH, haptoglobin, direct antiglobulin test (negative in HS)
04
Eosin-5-maleimide (EMA) flow cytometry as first-line screening
05
Osmotic fragility test, acidified glycerol lysis, or ektacytometry
06
Genetic testing in atypical, severe, or research cases
07
Family screening as appropriate
08
Folate supplementation 1 mg/day (5 mg in moderate-severe)
09
Monitor hemoglobin, reticulocytes, bilirubin periodically
10
Transfusion in severe anemia, aplastic crisis, or pregnancy as needed
11
Splenectomy (total or partial/subtotal) for moderate to severe HS to reduce hemolysis; ideally after age 5-6 to reduce sepsis risk
12
Cholecystectomy for symptomatic cholelithiasis (often combined with splenectomy)
13
Pre-splenectomy vaccinations: pneumococcal (PCV-13 + PPSV-23), Hib, meningococcal (MenACWY + MenB) at least 2 weeks prior
14
Post-splenectomy antibiotic prophylaxis (penicillin) at least until age 5 and during high-risk periods; lifelong in some guidelines
15
Patient/parent education on fever management, prompt antibiotic access, vaccine boosters
16
Iron studies and chelation if transfusion-dependent and overload develops
17
Genetic counseling for families
18
Pregnancy management: folate, monitoring, hematology and obstetric coordination
19
Long-term follow-up for gallbladder disease, leg ulcers, iron overload, post-splenectomy thrombosis risk
20
Lifestyle: avoid drugs causing oxidative hemolysis if comorbid G6PD; healthy diet, hydration, infection avoidance

Which Department to Visit?

You can visit our Hematoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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