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Rare diseases

Chiesi is committed to helping people living with rare and ultra-rare diseases by researching and developing innovative treatments to improve patient outcomes

Please note that disease prevalence and impacts may vary; consult a healthcare provider for advice on your specific condition

Alpha-mannosidosis

Fabry disease

Nephropathic cystinosis

Beta-thalassaemia

Leber hereditary optic neuropathy

Homozygous familial hypercholesterolemia

Lipodystrophy

Epidermolysis bullosa

Beta-thalassaemia

Beta-thalassaemia refers to a group of rare conditions affecting haemoglobin, an important substance that carries oxygen in the blood.1 Due to a change in the HBB gene, very little or no haemoglobin is produced, reducing the amount of oxygen that is carried around the body.1,2

Approximately 1,000 people are affected by beta-thalassaemia, with approximately 214,000 carriers in England, beta-thalassaemia being the most common and severe form of the condition in the UK. The highest prevalence of beta-thalassaemia is found in Bangladeshi, Chinese, Cypriot, Indian and Pakistani communities.1

Beta-thalassemia signs and symptoms include:3

Anaemia

Delayed growth

Bone abnormalities, unusual growth and weakness

Small stones in the gallbladder

Reduced fertility

Beta-thalassaemia can be detected during pregnancy by a screening test that is offered to all pregnant women in England. It can also be detected soon after birth using a heel prick test. Diagnosis can also be carried out at any age with a blood test.4.5

It is important to note that those living with beta-thalassaemia may have very different experiences of the disease and symptoms. If you, or anyone you know, is or may be affected by symptoms of beta-thalassaemia, please speak to a healthcare professional as soon as possible to get appropriate advice.

Further support and resources

There are several organisations and charities across the UK that aim to raise awareness for patients with rare diseases. Many provide a supportive community in which individuals and their families can both seek and offer support to others facing similar challenges.

For resources to support you with managing your condition:

Patient Resources

If you’re a patient, or a carer of a patient, who has been prescribed one of our products, you’ll find information and resources to help manage your condition here

Access resources

References

  1. GOV.UK. Haemoglobin disorders: migrant health guide. Available at: https://www.gov.uk/guidance/haemoglobin-disorders-migrant-health-guide.
  2. National Center for Biotechnology Information. Genes and Disease. Available at: https://www.ncbi.nlm.nih.gov/books/NBK22200/.
  3. NHS. Thalassemia symptoms. Available at: https://www.nhs.uk/conditions/thalassaemia/symptoms/.
  4. NHS. Thalassaemia diagnosis. Available at: https://www.nhs.uk/conditions/thalassaemia/diagnosis/.
  5. Patient. Thalassaemia. Available at: https://patient.info/allergies-blood-immune/thalassaemia-leaflet.