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).^[6]

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.

Medication

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Author

Gus Gonzalez, MD Medical Oncologist, Cox Medical Center Branson and CoxHealth Springfield

Gus Gonzalez, MD is a member of the following medical societies: American College of Physicians-American Society of Internal Medicine

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Ronald A Sacher, MD, FRCPC, DTM&H Professor Emeritus of Internal Medicine and Hematology/Oncology, Emeritus Director, Hoxworth Blood Center, University of Cincinnati Academic Health Center

Ronald A Sacher, MD, FRCPC, DTM&H is a member of the following medical societies: American Association for the Advancement of Science, American Association of Blood Banks, American Clinical and Climatological Association, American Society for Clinical Pathology, American Society of Hematology, College of American Pathologists, International Society of Blood Transfusion, International Society on Thrombosis and Haemostasis, Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

Chief Editor

Emmanuel C Besa, MD Professor Emeritus, Department of Medicine, Division of Hematologic Malignancies and Hematopoietic Stem Cell Transplantation, Kimmel Cancer Center, Jefferson Medical College of Thomas Jefferson University

Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American Society of Clinical Oncology, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Hematology, New York Academy of Sciences

Disclosure: Nothing to disclose.

Additional Contributors

Paul Schick, MD † Emeritus Professor, Department of Internal Medicine, Jefferson Medical College of Thomas Jefferson University; Research Professor, Department of Internal Medicine, Drexel University College of Medicine; Adjunct Professor of Medicine, Lankenau Hospital

Paul Schick, MD is a member of the following medical societies: American College of Physicians, American Society of Hematology

Disclosure: Nothing to disclose.

Acknowledgements

E Randy Eichner, MD Professor, Department of Internal Medicine, University of Oklahoma Health Sciences Center

E Randy Eichner, MD is a member of the following medical societies: Alpha Omega Alpha, American College of Sports Medicine, American Medical Society for Sports Medicine, and American Society of Hematology

Disclosure: Nothing to disclose.