Beta-thalassemia: Types, Symptoms Reasons and Treatment

Introduction

Beta thalassemias are a known inherited blood disorder. The occurrence of Beta thalassemias happens, when there is a reduction or absent synthesis of the beta chains of haemoglobin which leads to anaemia in individuals.

The incidence of these diseases happens to one in 100000 people. In other words, it happens quite rarely, when there is a malfunction in the HBB (Haemoglobin subunit beta). The severity of this disease can only be known by the level of its mutation.

The blockage of HBB over time can be the major reason to cause a decrease in the rate of beta chain synthesis. The inability of the body to construct new beta chains lead to the underproduction of HbA. This reduction of HbA leads to filling by red blood cells by which the problem of microcytic anaemia arises.

This problem occurs when there is inadequate HBB protein available for sufficient red blood cell functioning. The patients with this deficiency problem get into a critical situation where they need blood transfusions to correct the problem of blockage in the beta chains. But repeated blood transfusion can lead to the problem of iron overload.

Types of Beta-Thalassemia

There are two different forms of beta-thalassemia. The details are described below.

1. Thalassemia Minor

In this type of Beta-thalassemia, the individual has only one type of beta-thalassemia gene. According to certain research done on beta-thalassemia, it is found that the individual who has this beta-thalassemia would have a heterozygous genotype.

That person also faces the problem of mild anaemia in which there is a slight lowering of haemoglobin level in the blood. They also face a mild iron deficiency anaemia. But it is found from certain research that there is no treatment required to treat this disease.

2. Cooley's Anemia (Thalassemia Major)

This is another type of beta-thalassemia in which the child born with this disease doesn't have normal beta-chain genes. The child usually is homozygous for beta-thalassemia. This type of beta-thalassemia causes a striking deficiency in the beta chain production and in the production of HbA. The baby with this disease can seem entirely normal.

The predominant haemoglobin at birth is considered as fetal haemoglobin (HbF). Usually, the effect of anaemia starts to develop in the first few months after the birth of the baby. The baby fails to grow normally and faces the problem of easy fatigue due to anaemia and also suffers from fever, diarrhoea, and other intestinal problems.

Symptoms of Beta-Thalassemia

We have seen about the two different types of beta-thalassemia. There are also different types of symptoms and signs associated with it, like the damage to the spleen and formation of gallstones due to iron deposition. The above-mentioned symptoms usually can be seen in thalassemia major and intermedia patients. The person who has thalassemia major can also sometimes die of heart failure.

In this type of beta-thalassemia, there is a problem of excess iron that causes serious issues with the heart, liver, and endocrine glands. There are other symptoms like liver fibrosis, liver cirrhosis and in some extreme cases, there is an occurrence of liver cancer. There are problems of growth impairment, heart failure, diabetes and osteoporosis are some life-threatening conditions that one can face due to Thalassemia major.

Reasons Causing Beta-ThalassemiaMutations

This is one of the main reasons that causes beta-thalassemia. There are two different types of mutation that lead to beta-thalassemia.

Non-Deletion Forms

Usually, this type of mutation happens when there is involvement of single base substitution and one can find a small insertion near the upstream of the beta-globin gene. It is found that mutations most often occur in the promoter regions preceding the beta-globin genes. It is believed that the splice variant contributes to the cause of this disease.

Deletion Forms

In this mutation, there are deletions of different sizes that consist of the beta-globin gene that produces different syndromes like hereditary persistence of fetal haemoglobin syndromes or (?o).

Risk Factors Related to Beta-Thalassemia

There are certain risk factors that one should look after to prevent this disease. Some of those factors include family history and ancestry.

According to some recent findings, It is found that if a person's parents or grandparents had beta-thalassemia major or intermediate then there is around 75% chance that the person inherits those mutated genes.

If those children do not have beta-thalassemia they are still considered a carrier that can spread it to their offspring. The risk of beta-thalassemia is also related to certain regions. According to research, it is found that people of certain ancestry are said to carry this disease like people of Italian, Southern Asian, Greek, Middle Eastern, and African ancestry are seen to have this disease.

Treatments for Beta-Thalassemia

The following are the different types of treatment for treating this disease.

A. Treatment for Beta-Thalassemia Major1. Surgical

The person who has thalassemia major goes through the procedure of splenectomy. Nowadays there are less medical cases of splenectomies due to the decreased prevalence of hypersplenism in the properly transfused patients.

The person who undergoes hypersplenism tends to have a lower amount of healthy blood cells in their body and hence will face the symptoms of anaemia. Those iron-rich patients always need a splenectomy to reduce the overload of iron.

2. Therapeutic

The person with beta-thalassemia goes through the process of long term transfusion therapy to maintain the haemoglobin levels between 9 and 10 g/dL. There are very strict criteria regarding the safety of patients during the process of transfusion.

They should go through diagnosis and get confirmation of thalassemia major and their haemoglobin levels need to be less than 7 g/dL to be eligible to go through the process of transfusion.

These safety measures are taken to ensure a good quality of blood transfusion in which packed blood cells need to be leukoreduced with a minimum of 40g of haemoglobin content. By having leukoreduced blood packets the person is at a lower risk to develop adverse reactions by the contaminated white cells and also helps in taking care of platelet alloimmunisation.

3. Pharmaceutical

When a person has iron overload then it may become necessary for them to undergo chronic transfusion therapy. There is medical therapy like iron chelation that is used to balance iron overload.

There are other ways to remove this iron overload from happening like using Deferasirox which is known as an oral iron chelator and its dose depends on the iron burden. The use of deferasirox is vital after blood transfusion.

B. Treatment of Beta-Thalassemia Intermedia

When a person goes through beta-thalassemia intermedia then, they should require an episodic blood transfusion. This transfusion is necessary for patients who develop iron overload and need chelation therapy to get rid of excess iron. In some cases, genetic counselling is recommended and prenatal diagnosis may also be offered.

C. Treatment of Beta-Thalassemia Minor

In the case of beta-thalassemia minor, it can be monitored without treatment. People with minor thalassemia don't require transfusion therapy. These patients are still at risk of iron overload and particularly in the liver. It is not life-threatening but still affects the quality of life since it causes the problem of anaemia.

Beta thalassemia minor usually coexists with other health problems like asthma and can be caused by iron overload in the liver and can also be the reason for non-alcoholic fatty liver disease that can also lead to severe outcomes.

Conclusion

In this article, we have written about the most commonly faced health issue by the people of the UAE. We have tried to cover all aspects of beta-thalassemia like its causes, complications, and treatments. Health is the real wealth which is very important for a happy life. Eat healthy food and take some reliable health supplements for better health.

We should take care of our health in a proper manner to lead a good quality of life. A healthy lifestyle is one of the essential things for having a good quality of living. Be healthy, be happy, and stay away from diseases.

The Person who has health has hope and he who has hope has everything!