Hereditary spherocytosis type 5

EPB42-related hereditary spherocytosis (EPB42-HS) is a chronic nonimmune hemolytic anemia that is usually of mild-to-moderate severity. EPB42-HS can present with jaundice as early as the first 24 hours of life or can present later in childhood with anemia resulting from a hemolytic crisis or aplastic crisis (usually associated with a viral infection). In addition to the hematologic manifestations, serious complications include splenomegaly, which can become evident in early childhood, and cholelithiasis, which usually becomes evident in the second or third decade of life. Typical laboratory findings in EPB42-HS include anemia (decreased hemoglobin [Hgb] level) and reticulocytosis (increased percentage of reticulocytes), with high mean corpuscular Hgb concentration, presence of spherocytes in the peripheral blood smear, significantly decreased or absent haptoglobin, mildly increased osmotic fragility in osmotic fragility assay, increased Omin (osmolality at which 50% of red blood cells hemolyze), and decreased maximal elongation index (EImax) in osmotic gradient ektacytometry.

Full text of GeneReview (by section):

Summary

Diagnosis

Clinical Characteristics

Genetically Related (Allelic) Disorders

Differential Diagnosis

Management

Genetic Counseling

Resources

Molecular Genetics

Chapter Notes

References

Authors:

Theodosia A Kalfa

Amber H Begtrup

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