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A SEVEN-YEAR-OLD MALE WITH CIRCULATING RED BLOOD CELLS SHOWING A THERMAL INJURY-LIKE MORPHOLOGY

R Shackelford1, J Ansari2, D Veillon3

  • 1Dr. Shackelford is associated with the Department of Pathology.

The Journal of the Louisiana State Medical Society : Official Organ of the Louisiana State Medical Society
|March 18, 2016
PubMed

Insights

Hereditary pyropoikilocytosis is a rare red blood cell disorder causing anemia and jaundice. This case highlights unusual erythrocyte morphology in a pediatric patient, aiding diagnosis.

Area of Science:

  • Hematology
  • Genetics

Background:

  • Hereditary pyropoikilocytosis (HPP) is a rare, inherited hemolytic anemia.
  • It is characterized by abnormal red blood cell shape and fragility.

Observation:

  • A pediatric patient presented with a history of hematuria, jaundice, and anemia.
  • Family history revealed similar symptoms in his father and sister, diagnosed with HPP.
  • Peripheral blood smear showed extreme erythrocyte poikilocytosis with bizarre forms.

Findings:

  • Laboratory studies confirmed hemolytic anemia with elevated alkaline phosphatase and bilirubin.
  • Erythrocyte morphology was highly unusual, resembling that seen in severe thermal burns.

Implications:

  • This case underscores the importance of considering HPP in pediatric patients with unexplained hemolytic anemia and abnormal red blood cell morphology.
  • Recognizing these distinctive erythrocyte shapes can aid in the diagnosis of HPP, even in atypical presentations.
  • Further research into the genetic basis and clinical spectrum of HPP is warranted.

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