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Marwa Mostafa: Hemoglobinopathies – When Globin Genes Go Wrong

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Oct 2, 2026, 00:33

Marwa Mostafa: Hemoglobinopathies – When Globin Genes Go Wrong

Marwa Mostafa, Clinical Pathologist at Al-Esraa Medical Center, shared a post on LinkedIn:

“Hemoglobinopathies: When Globin Genes Go Wrong

When we hear ‘hemoglobinopathy,’ we often think immediately of sickle cell disease or thalassemia.

But hemoglobinopathies are a much broader group of inherited disorders – and understanding what goes wrong at the globin-gene level is the key to understanding their laboratory patterns.

There are two major mechanisms:

1. Quantitative defects – ‘How much globin is produced?’

The globin chain itself may be structurally normal, but its production is reduced or absent.

This is the basic mechanism of thalassemia.

α-thalassemia – reduced α-globin production
β-thalassemia – reduced β-globin production

The resulting imbalance between globin chains affects hemoglobin synthesis and produces the characteristic hematological findings of thalassemia.

2. Qualitative defects – ‘What does the globin look like?’

Here, the amount of globin may be produced, but a mutation changes the structure or function of the globin chain.

Examples include:

HbS – abnormal hemoglobin associated with sickling
HbC – structural hemoglobin variant
Other variants may result in unstable hemoglobin, altered oxygen affinity, or other functional abnormalities.

3. Sometimes, it is BOTH

One interesting example is HbE.

HbE results from a β-globin mutation that causes an amino-acid substitution and also affects β-globin mRNA splicing.

So HbE behaves as both:

A structural hemoglobin variant and a β-thalassemia-like production defect.

This is a great example of why classifying hemoglobinopathies isn’t always as simple as putting every disorder into one box.

So how do we investigate them?

The laboratory evaluation usually starts with:

CBC – Blood film – Hemoglobin analysis

Hemoglobin analysis by HPLC, capillary electrophoresis, or electrophoresis can help identify and quantify different hemoglobin fractions.

And this brings us to three very important fractions:

HbA
HbA₂
HbF

Understanding what these fractions represent – and how their proportions change in different disorders – is essential for interpreting hemoglobin analysis.

Clinical Pearl

Don’t just ask ‘Which hemoglobin is abnormal?’

Ask ‘What happened to the globin gene – production, structure, or both?’

That question can completely change how we interpret the laboratory pattern.”

Marwa Mostafa