{"id":747,"date":"2024-05-01T16:19:14","date_gmt":"2024-05-01T16:19:14","guid":{"rendered":"https:\/\/www.chiesimedical.co.uk\/patient\/?page_id=747"},"modified":"2024-10-15T14:57:48","modified_gmt":"2024-10-15T14:57:48","slug":"thalassaemia","status":"publish","type":"page","link":"https:\/\/www.chiesimedical.co.uk\/patient\/therapy-areas\/rare-diseases\/thalassaemia\/","title":{"rendered":"Beta-thalassaemia"},"content":{"rendered":"\n
\n \n \n
\n

Alpha-mannosidosis<\/h2>\n <\/div>\n <\/a>\n \n \n
\n

Fabry disease<\/h2>\n <\/div>\n <\/a>\n \n \n
\n

Nephropathic cystinosis<\/h2>\n <\/div>\n <\/a>\n \n \n
\n

Beta-thalassaemia<\/h2>\n <\/div>\n <\/a>\n \n \n
\n

Leber hereditary optic neuropathy<\/h2>\n <\/div>\n <\/a>\n \n \n
\n

Homozygous familial hypercholesterolemia<\/h2>\n <\/div>\n <\/a>\n \n \n
\n

Lipodystrophy<\/h2>\n <\/div>\n <\/a>\n \n \n
\n

Epidermolysis bullosa<\/h2>\n <\/div>\n <\/a>\n <\/div>\n\n\n\n

Beta-thalassaemia<\/h2>\n\n\n\n

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

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<\/sup><\/p>\n\n\n\n

Beta-thalassemia signs and symptoms include:3<\/sup><\/h3>\n\n\n\n
\n \n
\n \n \n <\/svg>\n

Anaemia<\/p>\n <\/div>\n \n

\n \n \n <\/svg>\n

Delayed growth<\/p>\n <\/div>\n \n

\n \n \n <\/svg>\n

Bone abnormalities, unusual growth and weakness<\/p>\n <\/div>\n \n

\n \n \n <\/svg>\n

Small stones in the gallbladder<\/p>\n <\/div>\n \n

\n \n \n <\/svg>\n

Reduced fertility<\/p>\n <\/div>\n <\/div>\n\n\n\n\n

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<\/sup><\/p>\n\n\n\n

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.<\/p>\n\n\n\n

Further support and resources<\/strong><\/p>\n\n\n\n

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. <\/p>\n\n\n\n

For resources to support you with managing your condition:<\/p>\n\n\n\n