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Thalassaemia - Symptoms, Causes & Treatment

Medikoe Health Expert

Medikoe Health Expert

  Koramangala, bengaluru, karnataka, india, Bengaluru     Sep 17, 2020

   5 min     

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Overview

Thalassemia is an inherited blood disorder characterised by less haemoglobin (an oxygen-carrying protein) and fewer red blood cells in the body than usual. This is a genetic disorder inherited from a person's parents. Thalassemia can make people very anaemic (pale, tired and short of breath)

There are two main types, alpha-thalassemia and beta-thalassemia. The severity of alpha and beta-thalassemia depends on how many of the four genes for alpha globin or two genes for beta-globin are missing. Beta thalassaemia major is the most severe type among all the thalassemias. Other types of thalassemias include alpha thalassaemia major, beta thalassaemia intermedia and haemoglobin H disease.

It's also possible to for a person be a "carrier" of thalassaemia,i.e., having the thalassaemia trait. Having the beta thalassaemia trait will not generally cause you any health problems, but can be at risk of having children with thalassaemia.

This condition is most common among the people of Greek, Italian, South AsianMiddle Eastern and African origin. Males and females have shown similar rates of disease.

Symptoms of Thalassemia

Since thalassemia is a genetic disorder inherited from a person's parents, people born with this condition encounter health issues after a few months from birth. In case of less severe cases, symptoms may not be noticeable until later in childhood or even until adulthood. 

  • grow more slowly than usual as children

  • feel weak, tired or short of breath

  • jaundice (be pale or have yellow skin colouring)

  • have dark urine

  • have a slight deformity of their facial bones

  • have a swollen belly

Causes of thalassaemia

Thalassaemia is caused due to faulty genes which affect the production of haemoglobin in the blood. A child can be born with thalassaemia only if they inherit these faulty genes from both the parents. 

Haemoglobin is made of different parts. The main parts are termed as alpha chains and beta chains which are then put together to make the haemoglobin molecule. In thalassaemia, a part of the haemoglobin is faulty - usually either the alpha chains or the beta chains. This indicates that some of the haemoglobin does not work properly. As a result, there is not enough normal haemoglobin, and the red blood cells tend to break down easily. This makes the person lacking in haemoglobin-anaemic, along with various symptoms. Meanwhile, the body tries to cope up by making more haemoglobin and more red blood cells. So, the blood system undergoes an overproduction mode, which can cause more symptoms and complications.

Depending on the type of thalassaemia, the amount of abnormal haemoglobin varies. It can be most of the body's haemoglobin or only a small proportion. This is mainly what determines how severe the thalassaemia is. There are also other individual factors involved. So, two people with the same type of thalassaemia may have different severity of illness from the same condition.

Treatments for thalassaemia

People suffering from thalassaemia will require special care all their lives. 

The main treatments are:

  • Chelation therapy – This treatment with medicine is required to remove the excess iron from a person's body which builds up as a result of having frequent blood transfusions. Sometimes, people suffering thalassaemia get a build-up of iron even without going through transfusions and require treatment for this.

  • Blood transfusions – Regular blood transfusions prevent and treat anaemia; in serious cases, the transfusions are needed around once a month.

  • Bone marrow transplant- The only workable cure for thalassaemia is a bone marrow or stem cell transplant, but it is not done oftentimes due to the risks involved. 

  • Diet- Consuming a healthy diet, doing regular exercise and not drinking alcohol or smoking too much can greatly help you stay as healthy as possible.

Health conditions associated with thalassaemia

The main health conditions associated with thalassaemia are

Iron Overload

People with thalassaemia tend to be at risk of developing a variety of health problems caused by a build-up of iron in their bodies. It is usually a side effect of repeated blood transfusions and can cause,

  • heart problems – including conditions affecting the heart muscle (cardiomyopathy), an irregular heartbeat and heart failure

  • delayed puberty

  • swelling and scarring of the liver (cirrhosis)

  • problems with the parathyroid glands (hypoparathyroidism) and thyroid gland (hypothyroidism)

  • low levels of testosterone (in men) or oestrogen (in women)

  • diabetes

Lifelong treatment with medicine will usually be needed to stop iron building up to harmful levels. This is known as chelation therapy.

Anaemia

Almost every person with thalassaemia will, at some point, develop anaemia, which can prove to be life-threatening in serious cases.

Anaemia causes low levels of haemoglobin, a substance present in the blood that transports oxygen. It can cause

  • a general lack of energy and tiredness 

  • shortness of breath

  • palpitations (fluttering, pounding or irregular heartbeats)

  • pale skin

  • jaundice (yellowing of the skin and eyes)

Frequent blood transfusions are usually required for life to stop anaemia from becoming severe.

Carriers of thalassaemia-thalassaemia trait

A carrier of thalassaemia, also known as the thalassaemia trait, is someone who carries at least 1 of the faulty genes which cause thalassaemia but does not have thalassaemia themselves.

If you're a carrier of the thalassaemia trait, you will not develop the condition. Being a thalassaemia carrier will generally not cause any health problems for you.

But you may notice mild anaemia since your red blood cells are smaller than usual and your haemoglobin levels may be somewhat lower than the normal.

This is not similar to iron deficiency anaemia and does not require any treatment. However, in case you are a thalassaemia carrier, you are at risk of having children with thalassaemia in case your partner is also a thalassaemia carrier.

How common is thalassaemia?

Thalassemia affects nearly 4 in every 10,000 live births around the world.

  • Beta thalassaemia is most prevalent in areas around the Mediterranean, Middle East, Central, South and Southeast Asia, as well as Southern China.

  • Alpha thalassaemia is more prevalent in Southeast Asia, India and Africa.

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Tags:  Diseases ,blood disorder, thalassaemia trait, Causes of thalassaemia, Anaemia, Bone marrow transplant, Blood transfusions, Treatments for thalassaemia, haemoglobin, red blood cells, jaundice, Symptoms of Thalassemia,

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