Severe microcytosis in a hemoglobin E/Β-thalassemia patient with signs of iron deficiency: A case report

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Measurement of Tissue Non-Heme Iron Content using a Bathophenanthroline-Based Colorimetric Assay
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Laurensia Goretti1, Christophorus Oetama Adiatmaja1, Hartono Kahar2

  • 1Study Program of Clinical Pathology, Department of Clinical Pathology, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia.

Annals of Medicine and Surgery (2012)
|June 23, 2022
PubMed

Insights

This case highlights a 6-year-old girl diagnosed with beta-thalassemia. Iron profile examination is crucial for managing this hereditary blood disorder, especially when microcytosis is present.

Area of Science:

  • Hematology
  • Genetics
  • Pediatrics

Background:

  • Beta-thalassemia is an inherited blood disorder impacting hemoglobin synthesis.
  • It leads to reduced red blood cell production and anemia.

Observation:

  • A 6-year-old girl presented with anemia and hepatomegaly.
  • Investigations revealed severe microcytosis, low hemoglobin, and characteristic red blood cell morphology.
  • Hemoglobin electrophoresis confirmed beta-thalassemia with elevated HbE and HbF levels.

Findings:

  • The patient exhibited severe microcytosis, suggesting potential coexisting iron deficiency.
  • Automated blood counts showed pseudothrombocytosis due to misinterpretation of small red blood cells.
  • Hemoglobin electrophoresis confirmed beta-thalassemia, with HbA at 4.9%, HbF at 18.3%, HbE at 70.5%, and HbA2 at 6.3%.

Implications:

  • Complete iron profile assessment is vital for accurate diagnosis and management of beta-thalassemia.
  • Understanding red blood cell morphology and potential co-morbidities like iron deficiency is critical for comprehensive patient care.
Abstract

Keywords:
AnemiaIron deficiencyMicrocytosisβ-Thalassemia

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