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Haemoglobinopathy – Causes, Symptoms and Treatment

Haemoglobinopathies are inherited disorders affecting the structure or production of haemoglobin, the red blood pigment. They can cause anaemia and other serious health complications.

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Things worth knowing about "Haemoglobinopathy"

Haemoglobinopathies are inherited disorders affecting the structure or production of haemoglobin, the red blood pigment. They can cause anaemia and other serious health complications.

What is a Haemoglobinopathy?

A haemoglobinopathy is a genetically inherited disorder in which the structure or production of haemoglobin – the red pigment found in red blood cells (erythrocytes) – is abnormal. Haemoglobin is responsible for transporting oxygen from the lungs to the body tissues and carrying carbon dioxide back. When haemoglobin is incorrectly formed or produced in insufficient quantities, the ability of red blood cells to function properly is significantly impaired.

Haemoglobinopathies are among the most common inherited disorders worldwide and are particularly prevalent in regions where malaria is or was endemic, as certain haemoglobin variants can provide partial protection against malaria infection.

Causes

Haemoglobinopathies are caused by mutations in the genes responsible for producing haemoglobin chains (alpha and beta chains). These mutations are inherited in an autosomal recessive pattern, meaning a child must inherit an altered gene from both parents to develop the full condition. Carriers of a single mutated gene (heterozygous carriers) usually show no or only mild symptoms.

The main causes include:

Point mutations in the globin genes (e.g., in sickle cell disease)
Deletions or duplications in the globin genes (e.g., in thalassaemias)
Combinations of multiple gene mutations (e.g., HbSC disease)

Types of Haemoglobinopathy

There are two main categories of haemoglobinopathies:

1. Structural Haemoglobinopathies

In these conditions, the amino acid sequence of a haemoglobin chain is altered, resulting in an abnormal haemoglobin molecule. The most well-known example is sickle cell disease, in which the abnormal haemoglobin S (HbS) causes red blood cells to adopt a characteristic sickle shape under low-oxygen conditions. Other known structural variants include haemoglobin C (HbC), haemoglobin E (HbE), and haemoglobin D (HbD).

2. Thalassaemias

In thalassaemias, it is not the structure but the quantity of one or more haemoglobin chains that is reduced. They are classified as:

Alpha-thalassaemia: Reduced or absent production of the alpha chains of haemoglobin
Beta-thalassaemia: Reduced or absent production of the beta chains of haemoglobin

Depending on severity, thalassaemias range from asymptomatic carrier states (thalassaemia minor) through mild anaemia to severe, transfusion-dependent forms (thalassaemia major).

Symptoms

Symptoms of a haemoglobinopathy depend greatly on the type and severity of the disorder. Common complaints include:

Anaemia: Fatigue, pallor, shortness of breath, reduced exercise tolerance
Pain crises (especially in sickle cell disease): sudden severe pain in bones, joints, chest, or abdomen
Jaundice: Yellowing of the skin and eyes due to increased breakdown of red blood cells
Enlargement of the spleen and liver (splenomegaly, hepatomegaly)
Delayed growth in children
Increased susceptibility to infections
Organ damage (kidneys, lungs, brain, heart) in severe cases

Diagnosis

The diagnosis of a haemoglobinopathy is established through several methods:

Full blood count: May reveal anaemia and changes in the size and shape of red blood cells
Haemoglobin electrophoresis or HPLC (High Performance Liquid Chromatography): Detection and quantification of abnormal haemoglobin variants
Molecular genetic testing: Identification of the specific gene mutation
Newborn screening: Routinely performed in many countries for common haemoglobinopathies
Prenatal diagnosis: Available when there is a known family history

Treatment

Treatment depends on the type and severity of the haemoglobinopathy:

Supportive and Symptomatic Therapy

Regular blood transfusions in severe anaemia (e.g., thalassaemia major)
Chelation therapy to manage iron overload resulting from repeated transfusions
Pain management during pain crises (sickle cell disease)
Folic acid supplementation to support red blood cell production
Vaccinations and antibiotic prophylaxis to reduce the risk of infections

Drug Therapy

Hydroxyurea: Increases the production of foetal haemoglobin (HbF) and reduces the frequency of pain crises in sickle cell disease
Voxelotor, Crizanlizumab: Newer medications approved for the treatment of sickle cell disease

Curative Therapy

Allogeneic stem cell transplantation: Currently the only established curative option for severe haemoglobinopathies
Gene therapy: Promising approaches including already approved treatments (e.g., betibeglogene autotemcel for beta-thalassaemia, exagamglogene autotemcel for sickle cell disease)

References

Weatherall DJ. - The inherited diseases of hemoglobin are an emerging global health burden. Blood. 2010;115(22):4331-4336. PubMed PMID: 20233970.
World Health Organization (WHO) - Sickle-cell disease and other haemoglobin disorders. WHO Fact Sheet. Geneva, 2011.
Piel FB, Steinberg MH, Rees DC. - Sickle Cell Disease. New England Journal of Medicine. 2017;376(16):1561-1573.

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