Thalassemia is a genetic disease with which Blood has a low hemoglobin level and a lower than average amount of gorse cells. Hemoglobin is a protein whose function is to transport oxygen throughout the body. This lack of hemoglobin and red blood cells can lead to anemia, so it is common for the person to feel tired, among other symptoms. We can distinguish between several types of thalassemias: alpha-thalassemia, beta-thalassemia, Cooley’s anemia, and Mediterranean anemia. Some thalassemias do not pose a problem since their incidence is very low, while others must be treated. Next, FastlyHealwe introduces you to thalassemia’s types, symptoms, and treatments.
Types of thalassemias
Hemoglobin comprises two types of protein: alpha-globin and beta-globin. The type of thalassemia will depend on the number of mutations produced and which protein they affect. The more mutations that occur, the thalassemia will be more serious.
- Alpha-thalassemias. It is the most common type of thalassemia and includes four genes, of which two are obtained from the parents and the other two from the mother. The symptoms will be more significant depending on the number of inherited genes. Regardless of whether symptoms are experienced or not, the person will be a carrier of the gene and will be able to pass the disorder on to their children.
- Beta-thalassemias. In this type, two genes are included: one is obtained from the father and the other from the mother. Like the previous one, the symptoms will depend on the number of acquired genes.
Symptoms of thalassemias
As we explained in the previous section, the symptoms will vary depending on the inherited genes from the parents. The greater the number of genes inherited, the symptoms will appear to a greater extent. Among the most frequent symptoms in cases in which the patient has anemia due to thalassemia are fatigue, breathing difficulties, and jaundice. In addition, an enlargement of some of the organs, such as the spleen or liver, may also occur.
Alpha thalassemia symptoms
- A mutated gene. The person hardly experiences any symptoms, leading to a usual standard of living. In any case, the person is a carrier of the disease and can transmit it genetically. This type is called a salient trait.
- Two mutated genes. In these cases, patients usually develop moderate anemia.
- Three mutated genes. Anemia is severe due to the destruction of red blood cells, known as a chronic hemolytic syndrome. It is known as H hemoglobinopathy.
- Four mutated genes. Known as Bart’s hemoglobin or hydrops details, it causes a fetus to die before delivery or at birth.
Symptoms of beta-thalassemia
- A mutated gene. The symptoms or signs that occur are very mild and are compatible with a normal lifestyle. This type is known as thalassemia minor.
- Two mutated genes. Known as thalassemia major, symptoms can range from moderate to severe. This type of thalassemia does not prevent the birth of a baby, although it can develop symptoms in the first years of life.
In this article, you can learn more about anemia.
Thalassemia treatment
When the symptoms of thalassemia are mild, treatment is not usually considered since these involve cumbersome procedures. In the case of moderate or severe thalassemias, the treatments that are applied in most cases are:
- Blood transfusions. It is executed in cases where thalassemia is severe or those with moderate thalassemia. The downside is that blood transfusions involve an increase in iron, which can cause damage to the heart, liver, or even other organs. Likewise, the patient should avoid consuming foods or supplements that involve a contribution of iron to prevent a higher level of this in the Blood. These patients receive so-called chelation therapy to remove excess iron.
- Bone marrow transplant . Also called stem cell transplantation, this treatment is applied in cases of severe thalassemias, especially in children. This treatment is the destruction of damaged bone marrow that involves radiation and drug exposure to the patient. To do this, a compatible donor must be found.
- Spleen removal. It is carried out when thalassemia involves chronic anemia and involves an enlargement of the spleen. By removing the spleen, it is possible to avoid problems derived from the pressure of the spleen due to its increase and reduced blood transfusions.
Possible complications
- Iron excess. Both the disease itself and blood transfusions are susceptible to an excessive iron accumulation in the Blood. This excess creates a risk of damage to the heart, liver, and endocrine system.
- Infection. Blood transfusions can also lead to blood infections.
- Spleen dilated . The spleen helps the body fight infection by filtering damaged red blood cells. In the case of thalassemia, the spleen has an increased function, which implies overexertion of this organ that may require its removal.
- Bone problems . People with thalassemia can develop deformities in the bones of the face and skull due to the expansion of the bone marrow and being able to suffer from mild osteoporosis.
- Growth problems . This blood disorder can cause a delay in the growth of children and puberty.
- Heart problems . A severe type is susceptible to heart failure and liver problems.
This article is merely informative, at FastlyHeal .com we do not have the power to prescribe medical treatments or make any type of diagnosis. We invite you to see a doctor in the case of presenting any type of condition or discomfort.
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I am a Surgeon with a diploma in comprehensive ultrasound and surgical care residency, an area I am specializing in. During the exercise of my profession, I have realized the need for patients to know the diseases they suffer, and I can tell you that a large part of their complications is due to a lack of information. Being a health web writer allows me to transmit my experience, without borders, to all those readers eager for knowledge, educate them in the prevention of diseases and promote a healthy lifestyle.