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Hereditary Spherocytosis

Shafqat Shah, MD^*
Roger Vega, MD

^* Assistant Professor of Pediatrics
Professor of Pediatrics, Section of Hematology/Oncology, Medical College of Georgia, Augusta, GA

	Objectives

 
After completing this article, readers should be able to:

1. Recognize the primary clinical features of hereditary spherocytosis (HS).
   
2. Identify the blood tests used to diagnose HS.
   
3. Recognize the signs of an aplastic crisis due to parvovirus B19.
   
4. Recognize the signs of a hemolytic crisis.
   
5. Describe the indications for splenectomy in HS.
   
6. Delineate the risk of postsplenectomy sepsis in patients who have HS.
   
7. Understand the importance of presplenectomy vaccination and postsplenectomy antibiotic prophylaxis in patients who have HS.
   
8. Identify the primary long-term complication of HS.
   

	Introduction

 
Hereditary spherocytosis (HS) is the most common red cell membrane disorder. Morphologically, spherocytes are rounded red cells that have lost the ability to change shape. Chronic hemolysis is the hallmark of HS. In most individuals, the condition is mild and requires no specific therapy. In severe cases, it results in severe anemia, splenomegaly, and jaundice. Splenectomy sometimes is recommended as therapy for severe cases and can result in amelioration of the disease. Patients who have undergone splenectomy are at increased risk for infections with encapsulated bacteria. Appropriate counseling and management of fever are essential to minimize the risk of sepsis in postsplenectomy patients.

	Epidemiology and Genetics

 
HS was described initially in 1871. It is found in increased numbers among persons of northern European descent. The incidence of HS is estimated to be 1 in 5,000 in the United States. Most cases are inherited in an autosomal dominant fashion. Approximately 25% of cases are discovered in persons who have no family history of HS; these cases may represent spontaneous mutations or recessive forms of the disease.

Over the past several decades, basic science researchers have discovered that abnormalities in several of the red cell membrane proteins (Fig. 1) can lead to the clinical manifestations typical of HS. In European and American patients, ankyrin-1 mutations are the major cause of . . . [Full Text of this Article]

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