Introduction

Thalassaemia is the name for a group of inherited conditions that affect a substance in the blood called haemoglobin.

People with the condition produce either no or too little haemoglobin, which is used by red blood cells to carry oxygen around the body. This can make them very anaemic (tired, short of breath and pale).

It mainly affects people of Mediterranean, South Asian, Southeast Asian and Middle Eastern origin.

There are a number of types of thalassaemia, which can be divided into alpha and beta thalassaemias. Beta thalassaemia major is the most severe type. Other types include beta thalassaemia intermedia, alpha thalassaemia major and haemoglobin H disease.

It's also possible to be a "carrier" of thalassaemia, also known as having the thalassaemia trait. Thalassaemia carriers don't have any serious health problems themselves, but are at risk of having children with the condition.

This page covers:

Symptoms

Causes

Screening and testing

Treatments

Outlook

Carriers

Symptoms of thalassaemia

Most people born withthalassaemia experience problemsfrom a few months after birth. Less severe cases may not be noticeable until later in childhood or even until adulthood.

The mainproblems associatedwith thalassaemiaare:

  • anaemia severe tiredness (fatigue),weakness, Shortness of breath , noticeably pounding, fluttering orirregularheartbeats ( palpitations ), and pale skin caused by the lack of haemoglobin
  • excess iron in the body this is caused by the regular blood transfusions used to treat anaemia and it can cause problems with the heart, liver and hormone levels if untreated

Some people experience other problems such as delayed growth, weak and fragile bones( osteoporosis ), and reduced fertility .

This means they only have one of the faulty genes that causes the condition.

  • Chelation therapy treatment with medications to remove the excess iron from the body that builds up as a result of having regular blood transfusions. Some people experience a build-up of iron even without transfusions and need treatment for this.
  • Eating a healthy diet, doing regular exercise and not smoking or drinking excessive amounts of alcohol can also help to ensure you stay as healthy as possible.

    The only possible cure for thalassaemia is a stem cell or bone marrow transplant , but thisisn't done very often because of the significant risks involved.

    But with currenttreatments,average life expectancy is expected to increase significantly, with people likely to live into their 50s, 60s and beyond.

    Carriers of thalassaemia (thalassaemia trait)

    A carrier of thalassemia is someone who carries at least one of the faulty genes that causes thalassaemia, but doesn't have the condition themselves. It's also known as having the thalassaemia trait.

    People with this trait won't develop severe thalassaemia, but are at risk of having a child with the condition if their partner is also a carrier.

    You can request a blood test to check if you're a carrier of thalassaemia from your GP surgery or nearest sickle cell and thalassaemia centre .

    .

    Content supplied by the NHS Website

    Medically Reviewed by a doctor on 29 Nov 2016