Understanding Beta Thalassaemia: A Patient Guide

Beta thalassaemia is a genetic blood disorder that affects the production of haemoglobin, the protein in red blood cells that carries oxygen around your body. This guide explains the condition, its causes, symptoms, treatments, and how to manage living with it.

What is Beta Thalassaemia?

Beta thalassaemia occurs when your body produces less haemoglobin than normal due to mutations in the HBB gene, which provides instructions for making beta-globin (a component of haemoglobin). This leads to anaemia (low red blood cell count), causing fatigue and other symptoms.

There are three main forms of beta thalassaemia:

• Beta Thalassaemia Minor (Trait): Mild and often without symptoms.
• Beta Thalassaemia Intermedia: Moderate anaemia with occasional complications.
• Beta Thalassaemia Major (Cooley’s Anaemia): Severe anaemia requiring lifelong treatment, including blood transfusions.

Background on Beta Thalassaemia

• History: Beta thalassaemia was first described in the early 20th century and is named after the Greek word “thalassa,” meaning sea, as it was initially identified in people living near the Mediterranean Sea.
• Global Impact: It is one of the most common inherited blood disorders worldwide, particularly in regions where malaria was historically prevalent, as carrying one copy of the gene provides some protection against malaria.

Causes, Incidence, and Prevalence

Causes

Beta thalassaemia is caused by mutations in the HBB gene, which affect the production of beta-globin chains in haemoglobin. It is inherited in an autosomal recessive pattern, meaning you need to inherit two faulty copies of the gene (one from each parent) to develop severe forms like beta thalassaemia major.

Incidence and Prevalence

• Incidence: Around 60,000 babies are born with severe forms of beta thalassaemia annually worldwide (source).
• Prevalence: More than 1.5% of the global population carries a beta thalassaemia gene mutation.

Who Is Affected?

1. Age of Onset: Symptoms typically appear within the first two years of life for severe cases like beta thalassaemia major.
2. Gender: Both males and females are equally affected.
3. Ethnicity: Higher prevalence is seen in people of Mediterranean, Middle Eastern, South Asian, and African descent due to genetic factors.

Geographic Distribution

Beta thalassaemia is more common in regions such as:

• The Mediterranean (e.g., Greece, Italy).
• The Middle East (e.g., Iran).
• South Asia (e.g., India, Pakistan).
• Southeast Asia (e.g., Thailand).

How Does Beta Thalassaemia Impact You?

Symptoms

The severity of symptoms depends on the type of beta thalassaemia:

• Mild Forms (Beta Thalassaemia Minor): Often no symptoms or mild anaemia.
• Moderate Forms (Beta Thalassaemia Intermedia): Fatigue, pale skin, delayed growth, and occasional complications like bone deformities or an enlarged spleen.
• Severe Forms (Beta Thalassaemia Major): Severe anaemia requiring regular blood transfusions, delayed growth and puberty, bone deformities (especially in the face), and complications like iron overload from transfusions.

 

Living With Beta Thalassaemia

Living with beta thalassaemia involves managing symptoms through treatment and regular monitoring to prevent complications such as iron overload or organ damage.

Expected Life Expectancy

With modern treatments like regular transfusions and iron chelation therapy, many individuals with beta thalassaemia major live into their 50s or beyond. Those with milder forms have normal life expectancy.

Managing and Treating Beta Thalassaemia

Available Treatments

Treatment depends on the severity of the condition:

1. Blood Transfusions:
   1. Regular transfusions are needed for individuals with beta thalassaemia major to maintain healthy haemoglobin levels.
   2. Transfusions help prevent complications like severe anaemia and delayed growth.

2. Iron Chelation Therapy:
   1. Frequent transfusions can lead to iron overload, which damages organs like the heart and liver.
   2. Medications like deferasirox or deferoxamine are used to remove excess iron from the body.

3. Bone Marrow or Stem Cell Transplant:
   1. The only potential cure for beta thalassaemia major.
   2. Suitable for some patients if a compatible donor is available.

4. Supportive Care:
   1. Folic acid supplements may help improve red blood cell production.
   2. Regular monitoring for complications such as heart disease or liver damage.

5. Lifestyle Adjustments:
   1. Eat a balanced diet rich in nutrients but low in iron-rich foods if you have iron overload.
   2. Avoid alcohol and smoking to protect your liver and overall health.
   3. Stay physically active within your limits to maintain strength.

Ongoing Clinical Research

Research into beta thalassaemia continues to explore new treatments aimed at improving outcomes for patients:

1. Gene Therapy: Trials are underway to correct HBB gene mutations or introduce functional copies of the gene into patients’ cells (source).
2. Gene Editing Techniques: Technologies like CRISPR-Cas9 are being studied for their potential to cure beta thalassaemia by repairing faulty genes.
3. Improved Iron Chelation Therapies: Newer drugs aim to reduce side effects while effectively managing iron overload.
4. For information on clinical trials related to beta thalassaemia, visit gov.

Support Groups and Resources

If you have been diagnosed with beta thalassaemia or want more information about managing it, connecting with support groups can provide valuable information and emotional support:

1. Thalassemia International Federation (TIF) (org.cy) – Offers global resources for patients living with thalassaemias.
2. UK Thalassemia Society (org) – Provides support for individuals affected by thalassaemias in the UK.
3. Cooley’s Anemia Foundation (CAF) (org) – Focuses on education and advocacy for people living with beta thalassaemias in the USA.
4. Rare Disease UK (org.uk) – Supports individuals living with rare conditions like beta thalassaemias.