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Hisam Siddiqi: Haemoglobinopathy Basics – A Quick Guide to Thalassaemia
Hisam Siddiqi/LinkedIn
Aug 4, 2026, 20:37

Hisam Siddiqi: Haemoglobinopathy Basics – A Quick Guide to Thalassaemia

Hisam Siddiqi, Consultant Haematologist at LycaHealth, The Blackheath Hospital, Dartford and Gravesham NHS Trust, shared a post on LinkedIn:

“Haemoglobinopathy Basics: A Quick Guide to Thalassaemia 

When faced with a patient with microcytic anaemia, don’t forget to think beyond iron deficiency!

Clues from the Full Blood Count (FBC)

Typical thalassaemia pattern:

  • Low Haemoglobin (Hb)
  • Elevated RBC count (often surprisingly high)
  • Low MCV (microcytosis)
  • Low MCH (hypochromia)

A low MCV with a normal or elevated RBC count is a classic clue.

1.Alpha (α) Thalassaemia

Alpha globin production depends on 4 α-globin genes.

Gene deletions and clinical outcomes:

  • αα/αα is Normal
  • αα/α- is Silent carrier
  • αα/– or α-/α- is α-thalassaemia trait – Mild microcytosis, Usually asymptomatic
  • α-/– is HbH disease – Moderate anaemia, Splenomegaly may occur, Markedly reduced MCV
  • –/– is Hb Bart’s hydrops fetalis – Severe disease, Usually incompatible with life

More common in:

  • Southeast Asia
  • Mediterranean populations
  • African populations

2.Beta (β) Thalassaemia

β-thalassaemia results from reduced or absent β-globin chain production.

Normal adult haemoglobin: HbA is α₂β₂

When β chains are reduced, Excess α chains accumulate, More δ chains combine with α chains, and HbA₂ (α₂δ₂) increases

HbA₂ Interpretation (Normal is approximately 2-3.5%)

  • Raised HbA₂
    Think: β-thalassaemia trait,Vitamin B12 deficiency, Folate deficiency, Some antiretroviral therapies
  • Normal HbA₂
    Think: α-thalassaemia
  • Reduced HbA₂
    Think: α-thalassaemia, δ-thalassaemia, δβ-thalassaemia

β-Thalassaemia Genotypes

  • β/β is Normal
  • β⁰/β or β⁺/β is Thalassaemia trait
  • β⁺/β⁺ or β⁰/β⁺ is Variable severity
  • β⁰/β⁰ is Thalassaemia major – Severe anaemia in infancy, Early transfusion dependence

Take-Home Message

When you see:

  • Very low MCV
  • Low MCH
  • Relatively high RBC count
  • Iron studies not fitting iron deficiency

Think thalassaemia and check haemoglobin electrophoresis and HPLC before prescribing iron.”

Hisam Siddiqi

Other posts featuring Hisam Siddiqi on Hemostasis Today.

Alpha Thalassaemia anemia bleeding disorders Blood electrophoresis FBC Full Blood Count Haemoglobin Haemoglobinopathy Hb Health Hematology Hemostasis Hemostasis News Hemostasis Today HPLC Iron-Deficiency MCH MCV Medicine Microcytic Anaemia RBC Thalassaemia
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