A. Etiology

1. Hereditary abnormality of red blood cells (RBC)
2. Spherocytes lack normal central pallor of RBC
3. Due to abnormal cytoskeleton
   1. Spectrin is major skeletal protein and is usually abnormal
   2. Some families have abnormal Protein 2.1 or 4.1 in red cell membrane

B. Symptoms [2]

1. Anemia - shortness of breath, high cardiac output with eventual failure
2. Hemolysis - bilirubin stones, cholecystitis, high LDH
3. Iron overload due to transfusions
4. Aplastic crisis may be precipitated by parvovirus B19 infection [2]

C. Laboratory Evaluation

1. CBC: small cells (MCV ~60-70) with increased red cell distribution width (RDW)
2. Blood smear: spherical cells without central pallor
3. Elevated lactate dehdyrogenase, indirect bilirubin, low haptoglobin and hemopexin

D. Treatment

1. Transfusion as needed
2. Splenectomy
   1. Decreases hemolytic component of disease
   2. Increased risk for severe infection, sepsis, and death following splenectomy [3]
   3. Estimated sepsis in splenectomized patients with spherocytosis is 0.73/1000yrs [4]
   4. Patients should be immunized with Pneumococcal [4] and HIB vaccines [5]
3. Iron overload treated as for thalassemia

References

1. Friedman EW, Williams JC, Van Hook L. 1998. Am J Med. 84:513
2. Abbey E and Lacy J. 1998. Am J Med. 104(2):200 (Case Record)
3. Schwartz PE. et al. 1982. JAMA. 248:2279
4. Schilling RF. 1995. Ann Intern Med. 122(2):187
5. Teare L and O'Riordan S. 1992. Lancet. 340:1362