Reticulum vs Inclusions: A Learning Experience in Haemoglobin H Disease

Area of Science:

• Hematology
• Genetics
• Red blood cell disorders

Background:

• Haemoglobin H (HbH) disease, a variant of alpha-thalassaemia, is defined by HbH inclusions in erythrocytes.
• Diagnosis typically involves identifying these inclusions via specific staining techniques.

Observation:

• A 31-year-old male presented with insidious anemia and splenomegaly.
• Peripheral smear showed microcytic hypochromic anemia with spherocytes and polychromasia.
• HbH inclusions were initially misidentified as reticulocyte reticulum on vital stain, leading to an erroneously high reticulocyte count.

Findings:

• Accurate identification of HbH inclusions is crucial for diagnosing Haemoglobin H disease.
• High-performance liquid chromatography (HPLC) confirmed the presence of HbH inclusions.
• Distinguishing HbH inclusions from reticulocyte reticulum is essential for correct diagnosis.

Implications:

• Misinterpretation of HbH inclusions can lead to diagnostic errors and delayed treatment.
• This case underscores the importance of careful microscopic examination and advanced diagnostic tools.
• Accurate diagnosis of alpha-thalassaemia variants ensures appropriate patient management and genetic counseling.