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Alpha Thalassaemia

 
 
 
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Overview

  • Alpha thalassaemia is an inherited condition affecting the alpha chains of haemoglobin, resulting in defective haemoglobin synthesis.
  • Four alpha chain genes are inherited (two from each parent), and the type of alpha thalassaemia depends on how many of the four alpha chains are defective.
  • Due to a lack of alpha chains, there is an increase in haemoglobin H (consisting of four beta chains).
  • Alpha thalassaemia commonly occurs in people from South-East Asia, Mediterranean countries, Africa, the Middle East and India. The condition is very uncommon in caucasian populations.

Classification

  • GenotypePhenotype
    Silent Carrier α α / α -Mild to no anaemia
    Alpha Thalassaemia Minor / Traitα - / α - (cis)
    α α / - - (trans)
    		Hypochromic microcytic anaemia
    Haemoglobin H (HbH) Diseaseα - / - -Severe hypochromic microcytic anaemia
    HbH inclusions (supravital staining)
    Hydrops Foetalis- - / - -Fatal in utero

Diagnosis

    • Test Findings in Alpha Thalassaemia

    • Full Blood Count & Film

    • Microcytic hypochromic anaemia
    • Anisocytosis: variation in red blood cell size
    • Poikilocytosis - target cells, teardrop cells, elliptocytes, fragments
    • HbH bodies (on supravital staining)HbH disease only
    • Basophilic stippling
    • Nucleated red blood cells

    • Other Tests

    • High performance liquid chromatography / haemoglobin electropheresis - increased haemoglobin HNormal in thalassaemia trait - used for the diagnosis of HbH disease only
 
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