Thalassemia is one of the most common hereditary hematopoietic diseases in which hemoglobin and red blood cells are lower in number in the affected body than normal. Molecular hemoglobin is a protein found in your red blood cells that allows blood cells to carry oxygen. This disorder leads to excessive destruction of red blood cells and causes anemia.

Symptoms

Since there are several types of thalassemia, the symptoms that occur depend on the type of the disease. The most common signs and symptoms of thalassemia anemia are:
• Fatigue
• Weakness
• Pale skin
• Abdominal swelling
• Dark urine
• Slow child development
• Facial bone deformity

Some babies develop thalassemia symptoms at birth, but in others, symptoms appear after one or two years of birth. People with only one of the genes associated with hemoglobin are not usually symptoms of anemia, but if the number of mutated genes is higher than the number of genes involved, the symptoms also become more severe.

Reasons

Thalassemia occurs when hemoglobin protein-producing genes are impaired and mutated so that part of the body’s hemoglobin production power is removed due to such a disorder. Thalassemia mutated genes are transmitted from parents to offspring. This hereditary transfer leads to a significant decrease in blood oxygen levels and subsequent symptoms such as fatigue and weakness.

Types of Thalassemia

Hemoglobin protein is composed of two chains called alpha and beta. If any of these chains have structural defects, the child will develop the disease. If the alpha chain mutates, it is called alpha thalassemia, and if the beta chain mutates, it is called beta thalassemia. In the alpha type, the severity of anemia depends on the number of mutations inherited from parents, so that the higher the number of mutations, the higher the severity of the symptoms, but in the beta type the symptoms depend on which part of the hemoglobin molecule is affected.

Alpha Thalassemia

Four genes are involved in the construction of the hemoglobin alpha chain. Of these four genes, two genes are inherited from the father and two from the mother. If you:
• You inherited an incomplete and mutated alpha gene, anemia is very mild and often does not show symptoms. But you are the vector of the disease and there is a possibility of passing the mutated gene to your children.
• You inherited two alpha mutated genes from parents, in which case your symptoms are usually mild and officially and medically called this alpha thalassemia condition.
• You have received three incomplete genes, in such cases the signs and symptoms of the disease will range from moderate to severe.
Inheriting four alpha mutant genes is very rare and if that happens, the baby will die at birth. However, in some cases, infants with such conditions can be treated with bone marrow transplantation and blood transfusion.

Beta thalassemia

Two genes are involved in the construction of the beta chain of hemoglobin protein, one of which is transmitted from father and the other from mother to offspring. If you:

• You have received a mutated gene, the symptoms are mild and are officially called minor thalassemia or beta conditions.

• The two genes you inherited, the signs and symptoms will range from moderate to severe, and it is called major thalassemia.
Newborns born with two incomplete genes are usually healthy early in birth, but in the first two years of life the signs and symptoms of thalassemia gradually become apparent.

Treatment

Treatment for thalassemia varies depending on the type and severity of the disease. Thalassemia treatments generally include:
• Blood transfusion
• Bone marrow transplantation
• Taking medications and supplements
• Surgery to remove spleen or gallbladder
• Gene therapy

Complications

The complications and possible consequences of this moderate to severe disease are as follows:
• Iron accumulation in the body: Iron accumulation is likely in the body of people with the disease due to frequent blood transfusions or the disease itself. Excess iron in the body can damage the heart, liver and hormonal system of the body
• Infection: People with thalassemia are more susceptible to infection than others

In severe cases, the following complications are likely to occur:

– Bone deformity: In some severe cases of thalassemia, bones may be flattened and bone abnormalities are possible. It is most commonly seen in the bones of the face and skull. Changing the state of the bones makes them thin and this process can increase the likelihood of fractures .
– Spleen swelling: One of the most important tasks of the spleen in the body is to help the immune system fight infectious agents and cleanse the body of unhealthy compounds such as damaged red cells. In thalassemia due to the widespread destruction of red cells, the pressure on the spleen is doubled and causes it to swell.
– Slowing growth rate: Children with severe type thalassemia may have slower growth rate and reach puberty later.
– Heart problems: Arrhythmia and heart failure are other complications associated with severe thalassemia

Since thalassemia is a genetic disorder, there is no way to prevent it. However, there are ways you can control the disease and prevent its complications. In addition to hepatitis vaccines and ongoing medical care, diet and exercise will also be beneficial.
In most cases, you cannot prevent thalassemia. However, if you have thalassemia or are carrying a thalassemia gene and plan to have children, it is best to consult a genetic doctor.