Hereditary Spherocytosis Clinical Presentation

  • Author: Gus Gonzalez, MD; Chief Editor: Emmanuel C Besa, MD   more...
 
Updated: Jan 10, 2012
 

History

Anemia, jaundice, and splenomegaly are the clinical features of HS. However, signs and symptoms are highly variable. Anemia or hyperbilirubinemia may be of such magnitude as to require exchange transfusion in the neonatal period. The disorder also may escape clinical recognition altogether. Anemia usually is mild to moderate; however, sometimes it is very severe and sometimes it is not present.

  • Children diagnosed early in life usually have a severe form of HS, thus resulting in their early presentation.
  • Jaundice is likely to be most prominent in newborns. Approximately 30-50% of adults with HS had a history of jaundice during the first week of life. The magnitude of hyperbilirubinemia may be such that exchange transfusion is required. Beyond the neonatal period, jaundice rarely is intense. Icterus is intermittent and is associated with fatigue, cold exposure, emotional distress, or pregnancy. An increase in scleral icterus and a darker urine color commonly are observed in children with nonspecific viral infections.
  • Usually, laboratory evidence of ongoing hemolysis exists. Splenomegaly is the rule, and palpable spleens have been detected in more than 75% of affected subjects. The liver is normal in size and function.
  • A family history of HS is present, or the patient may report a history of a family member having had a splenectomy or cholecystectomy before the fourth decade of life.
  • The signs and symptoms are those associated with all chronic hemolytic states, such as mild pallor, intermittent jaundice, and splenomegaly.
  • Adults who remain undiagnosed usually have a very mild form, and they live with the HS remaining undetected until challenged by an environmental stressor.
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Physical

  • Moderate HS is the most common form. Moderate HS accounts for 60-75% of all HS cases. In most cases, the pattern of transmission is autosomal dominant, although recessive inheritance also is observed. It is associated with mild-to-moderate anemia, modest splenomegaly, and intermittent jaundice.
  • Mild HS occurs in 20-30% of cases of autosomal dominant HS. Anemia generally is not present because the bone marrow is able to fully compensate for the persistent destruction of red cells. Little or no splenomegaly occurs. These patients usually are asymptomatic. They often are not diagnosed until later in life. They are identified as a result of hemolytic or aplastic episodes triggered by infection. The condition is identified only through family surveys.
  • Severe HS occurs in approximately 5% of all patients with HS. Severe hemolytic anemia that requires red cell transfusions and an incomplete response to splenectomy characterize severe HS. The pattern of inheritance is recessive. The parents of a patient who is affected have no signs of HS or have only a mild increase in the reticulocyte count, a few spherocytes on peripheral blood smear, a minimally abnormal incubated osmotic fragility test result, or an abnormal spectrin content detected when using sensitive techniques.
  • Other important clues are jaundice and upper right abdominal pain indicative of gallbladder disease. This is especially important if a family history positive for gallbladder disease is present.
  • Any patient who presents with profound and sudden anemia and reticulocytopenia with the aforementioned physical findings also should have HS in the differential diagnosis.
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Causes

An intrinsic genetic defect causes defects in membrane proteins. Hemolysis in HS results from the interplay of an intact spleen and an intrinsic membrane protein defect that leads to abnormal RBC morphology.

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Contributor Information and Disclosures
Author

Gus Gonzalez, MD  Medical Oncologist, The Center for Cancer and Blood Disorders

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

Disclosure: Nothing to disclose.

Coauthor(s)

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.

Specialty Editor Board

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 Heart Association, American Society of Hematology, International Society on Thrombosis and Haemostasis, and New York Academy of Sciences

Disclosure: Nothing to disclose.

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

Disclosure: Medscape Salary Employment

Ronald A Sacher, MB, BCh, MD, FRCPC  Professor, Internal Medicine and Pathology, Director, Hoxworth Blood Center, University of Cincinnati Academic Health Center

Ronald A Sacher, MB, BCh, MD, FRCPC 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, and Royal College of Physicians and Surgeons of Canada

Disclosure: Glaxo Smith Kline Honoraria Speaking and teaching; Talecris Honoraria Board membership

Rajalaxmi McKenna, MD, FACP  Southwest Medical Consultants, SC, Department of Medicine, Good Samaritan Hospital, Advocate Health Systems

Rajalaxmi McKenna, MD, FACP is a member of the following medical societies: American Society of Clinical Oncology, American Society of Hematology, and International Society on Thrombosis and Haemostasis

Disclosure: Nothing to disclose.

Chief Editor

Emmanuel C Besa, MD  Professor, Department of Medicine, Division of Hematologic Malignancies, 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 College of Clinical Pharmacology, American Federation for Medical Research, American Society of Clinical Oncology, American Society of Hematology, and New York Academy of Sciences

Disclosure: Nothing to disclose.

References

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