Thalassemia- A Threatening Blood Disorder

If you get hurt, you bleed and to stop the bleeding your body forms a blood clot. Platelets and proteins are widely known as clotting factors, which every human body needs. If a person does not have enough platelets or clotting factors then he/she may be suffering from blood disorder. Bleeding disorders may be the result of various other diseases, they can also be inherited. Some of the bleeding disorder types are:

• Red blood cells (RBCs) – Thalassemia
• White blood cells (WBCs) – Leukemia
• Blood plasma- Haemophilia is an inherited bleeding disorder

Here in this blog, we are going to discuss the brief account on Thalassemia. It a blood disorder which genetically inherited through parents in which the body makes an abnormal form of haemoglobin or red blood cells that carries oxygen. This blood disorder is originated in the Mediterranean region and is caused by the destruction of the red blood cells, which leads to anaemia and fatigue. An estimated 18,000 deaths occurred in the year 2010 globally due to thalassemia.

It has been reported in the United Nations study that the Maldives has the highest incidence of thalassemia in the world with 18% of the population. An estimated 16% of people in Cyprus and 3% to 8% of populations from India, China, Bangladesh, Malaysia and Pakistan are on the prevalence of thalassemia. Moreover, thalassemia also occurs in descendants of people from Latin America and other coastal regions.

Thalassemia causes and types:

Excessive destruction of red blood cells in thalassemia leads to anaemia, a disorder in which the body doesn’t produce normal or healthy red blood cells (RBCs). Basically, Haemoglobin is composed of protein chains including two α and two β globin chains. Two types including causes of thalassemia are:

• Alpha thalassemia – In alpha thalassemia, at least one of the alpha globin genes has a mutation or abnormality and it occurs mostly in people from the Southeast Asia, Middle East, China, and African descent.
• Beta thalassemia – In beta thalassemia, the beta globin genes gets affected and these occur often in persons of Mediterranean origin. Further, to a lesser extent, Chinese, Asians, and Afro Americans can be affected.

Alpha and beta thalessemia include thalassemia major, which occurs when gene’s defect inherit from both parents. Whereas, thalassemia minor occur, when the infected person receive the faulty gene only from one parent.

What are the symptoms of thalassemia?

Basic symptom of developing thalassemia is lack of oxygen in the bloodstream. It occurs, when the body is not able to produce enough healthy red blood cells and haemoglobin. But, the severity of symptoms depends on the severity of the disorder. Some of the signs and symptoms of thalassemia are mentioned below:

• Fatigue
• Weakness
• Pale appearance
• Facial bone deformities
• Abdominal swelling
• Dark urine
• Enlarged liver, spleen, or heart
• Overloading of iron in the body either from the disease itself or from frequent blood transfusions, which may result in damage to the heart and liver.
• Slow growth rate of child

Further, the most severe sign of thalassemia is stillbirth, which means the death of the unborn baby during birth.

Complications of thalassemia:

In every disease there are complications involved but better treatments nowadays helps people in curing their disease and allows them to live much longer. People suffering from moderate and severe thalassemia must cope up with the below mentioned complications that occur over time, these are:

• Heart and liver diseases – Regular blood transfusions are the only treatment for thalassemia. But blood transfusions often cause iron to build up in the blood (iron overload) and damage organs and tissues, especially the heart and liver. Basically, heart disease caused due to iron overload is the main death cause of people with thalassemia.
• Infections – People with thalassemia are at high risk of getting attacked by infections, which are the key cause of illness and the second most common cause of death in these patients. In addition, people who have had their spleens removed are at higher risk against fighting the infections.
• Osteoporosis– People with thalassemia face bone problems, including osteoporosis (OS-te-o-po-RO-sis). In this condition bones get weak and brittle and can break easily.
• Leukemia – This is regarded as a group of cancers that begin in the bone marrow and results in the development of large number of abnormal white blood cells. A spongy material inside the bones which uses iron that our body makes from food and makes haemoglobin. The bone marrow of people with thalassemia does not produce enough healthy red blood cells and causes anaemia and fatigue, because the body is short of oxygen.

Treatment of thalassemia:

Treatment of any disease totally depends on the type and condition of it. As in the case of thalassemia it depends on which type you have and how severe it is. There are various treatment options of thalassemia, which are mentioned below:

• Blood transfusions – This procedure is basically used to replenish haemoglobin and red blood cell levels. Patients suffering from moderate thalassemia require transfusions every 4 months, while those with more severe thalassemia may require blood transfusions every two to four weeks. Moreover, as the passage of time, blood transfusions can cause building up of iron in your blood, which may damage your heart, liver and other organs too. To get rid of the extra iron from the body, you may need to take other medications.
• Iron chelation -This procedure is the process of removing excess iron from the bloodstream because excessive amount of iron is bad for the heart and other organs. In some cases patients are prescribed subcutaneous (injected under the skin) deferoxamine or oral (taken by mouth) deferasirox.
• Stem cell transplant – This is another treatment option for thalassemia and in this process bone marrow transplant happens. Before starting this treatment, patient may receive high doses of drugs or radiation to destroy their diseased bone marrow. Then they have to receive infusions of stem cells from a compatible donor. This treatment procedure is effective but sometimes possesses serious risks such as death.

Lifestyle and remedies:

To cure or lower the symptoms of any disease, there is a definite law that the patient has to make a change in his/her lifestyle and also try to implement some remedies too. Some of the lifestyle changes and remedies are mentioned below:

• Avoid excess iron – Always try to consult your doctor first. Don’t take vitamins or other supplements that contain iron unless he recommends it.
• Eat a healthy diet – Consumption of balanced healthy diet can help you feel better and boost your overall energy. During the treatment course of thalassemia your doctor will definitely recommend you to take folic acid supplements to help your body make new red blood cells. Moreover, make sure your diet should contain adequate amount of calcium and vitamin D to keep your bones healthy.
• Avoid infections – To protect yourself from every infection or bacteria are impossible. But you can protect yourself from infections with frequent hand-washing and by avoiding sick people and it’s very important if you’ve already had your spleen removed. Furthermore, to prevent yourself against infections, you need an annual flu shot along with meningitis and hepatitis B vaccines.

Was this article helpful? Did you read anything new here about thalassemia? Let us know by leaving comments in the following section. Share this with anyone you think needs to read it. Play a part in spreading awareness about thalassemia!