Hereditary Spherocytosis Guidelines

Updated: Feb 18, 2021
  • Author: Gus Gonzalez, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Guidelines

Guidelines Summary

The British Society for Haematology (BSH) has published guidelines, most recently updated in 2011, for the diagnosis and treatment of hereditary spherocytosis (HS). [4]

Diagnostic recommendations from the BSH include the following:

  • In patients with a family history of HS who have typical clinical features and laboratory findings (ie, spherocytes, raised mean corpuscular hemoglobin concentration [MCHC], increased reticulocyte count), no additional tests are required to establish the diagnosis of HS.
  • If the diagnosis is equivocal, a screening test with high predictive value for HS is helpful. The recommended screening tests are the cryohemolysis test and EMA (eosin-5-maleimide) binding.
  • If the screening tests produce an equivocal or borderline result (see below), gel electrophoresis of erythrocyte membranes is the method of choice for confirming the diagnosis. Gel electrophoresis can identify atypical cases involving red blood cell (RBC) membrane and cytoskeleton abnormalities caused by spectrin genes, ankyrin gene, and the SCLC4A1 gene. Its main drawback is a lack of sensitivity for very mild or asymptomatic "carrier" HS.
  • Diagnosis of HS does not require molecular analysis of the affected genes.

The use of sodium dodecyl sulphate polyacrylamide gel electrophoresis (SDS‐PAGE) is recommended in the following circumstances:

  • When the clinical phenotype is more severe than predicted from the RBC morphology.
  • When the RBC morphology is more severe than predicted from parental blood films, in cases where one parent is known to have HS.
  • If the diagnosis is not clear prior to splenectomy and the patient might have an abnormality in Na +/K + permeability (as is found in hereditary stomatocytosis). When the morphology and RBC indices are typical for HS, there should be no doubt, but in more subtle cases (eg, when mean corpuscular volume [MCV] is >100 fl), clarification is essential, as splenectomy may not be appropriate in patients with the rare overhydrated and dehydrated hereditary stomatocytosis.

Treatment recommendations from the BSH include the following:

  • The laparoscopic approach to splenectomy is recommended, but requires appropriately trained surgeons and suitable equipment.
  • Partial splenectomy may be beneficial but needs further follow-up studies.
  • In children undergoing splenectomy, the gallbladder should be removed concomitantly if there are symptomatic gallstones. If stones are an incidental finding in a patient without symptoms, the value of cholecystectomy remains controversial. If the gallbladder is left in place, including cases in which a cholecystostomy with stone extraction is done, close follow‐up using ultrasound is necessary.
  • In children who require cholecystectomy for symptoms from gallstones, the use of concurrent splenectomy is controversial. Splenectomy in this setting may decrease future risk of common bile duct stones, but is associated with a risk of post‐splenectomy sepsis.
  • When splenectomy is indicated, ideally it should be done after the age of 6 years.
  • There is no indication for extended thrombosis prophylaxis after splenectomy in patients with HS. Adults should receive customary perioperative thromboprophylaxis.
  • Splenectomy should be avoided in patients with some forms of hereditary stomatocytosis, due to an increased risk of venous thromboembolism.