A case of hereditary spherocytosis misdiagnosed as pyruvate kinase deficient hemolytic anemia.

Abstract

BACKGROUND:

Hereditary spherocytosis (HS) and pyruvate kinase (PK) deficiency are the most common causes of congenital hemolytic anemia. We describe a case of HS with defective PK activity initially misdiagnosed as PK deficiency.

METHODS:

Hematologic investigation, SDS-PAGE analysis of red cell membrane proteins and sequencing of the PKLR gene were performed.

RESULTS:

The molecular characterization of the PKLR gene showed a heterozygous mutation 994G > A (Gly332Ser) associated with the promoter substitution -148C > T, whose role in the pathophysiology of PK deficiency is debated. Further investigations revealed spectrin deficiency; the family study demonstrated that the hemolysis was exclusively attributable to HS.

CONCLUSIONS:

The present case pinpoints to the need for extensive family investigations to correctly diagnose chronic hemolytic anemia, in particular when molecular characterization does not fully explain the clinical phenotype.

• Authors: Cristina Vercellati, Anna Paola Marcello, Elisa Fermo, Wilma Barcellini, Alberto Zanella, Paola Bianchi
• Journal: Clinical laboratory (Clin Lab) Vol. 59 Issue 3-4 Pg. 421-4 ( 2013) ISSN: 1433-6510 [Print] Germany
• PMID: 23724634 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Pyruvate Kinase

Topics

• Adolescent
• Anemia, Hemolytic, Congenital Nonspherocytic (diagnosis)
• Diagnostic Errors
• Electrophoresis, Polyacrylamide Gel
• Humans
• Male
• Pyruvate Kinase (deficiency)
• Pyruvate Metabolism, Inborn Errors (diagnosis)
• Spherocytosis, Hereditary (diagnosis)