​​Thalassemia: Symptoms,Causes and Treatment

Thalassemia, an inherited blood illness, has piqued the medical community's curiosity and worry. Understanding the complexity and repercussions of this illness is critical, given its prevalence in diverse parts of the world. This blog sheds light on thalassemia by investigating its causes, symptoms, and treatment options.

What Is Thalassemia?

Thalassemia is a category of genetic blood illnesses that disrupt hemoglobin synthesis, the protein that transports oxygen in red blood cells. It is caused by gene mutations that govern hemoglobin production, resulting in decreased or aberrant protein synthesis. Two protein chains, i.e., alpha globin and beta globin, make up hemoglobin. Thalassemia is divided into two categories based on whether the region of the hemoglobin molecule is affected:

• Alpha Thalassemia: A lack or absence of alpha globin chains characterizes Alpha Thalassemia. It is more common in Asian, Southeast Asian, and African individuals.
• Beta Thalassemia: This condition is distinguished by decreased or nonexistent beta globin chains.

The number of damaged genes and the precise mutations involved determine the severity of thalassemia. Individuals with thalassemia may have diminished red blood cell production, resulting in anemia, tiredness, and other health issues. Thalassemia is usually inherited when both parents have one or more defective thalassemia genes. A child is more likely to have a severe form of thalassemia if they receive two faulty genes (one from each parent).

Thalassemia Symptoms

The following are some of the most prevalent thalassemia symptoms:

​Thalassemia causes a decrease in the production of hemoglobin and red blood cells, resulting in anemia. Anemia can cause fatigue, weakness, and pale complexion, among other symptoms.

• ​Jaundice: An excessive breakdown of red blood cells can increase bilirubin levels, producing skin and eye yellowing (jaundice).
• Spleen Enlargement (Splenomegaly): As the spleen attempts to remove damaged red blood cells, it may enlarge.
• Growth and Developmental Delays: Thalassemia can impact children's physical and mental development in extreme situations.
• Thalassemia can cause bone marrow enlargement, resulting in bone abnormalities and thinning.
• Adolescents with thalassemia may undergo delayed puberty as a result of hormonal abnormalities.
• Infections: People with thalassemia may be more prone to infections due to their suppressed immune systems.
• Severe thalassemia can cause fluid collection in the abdomen (ascites) due to an enlarged spleen and liver.
• Dark-colored Urine: The release of hemoglobin from the breakdown of red blood cells can make the urine seem black.

Contact the medical staff at MLP in Turkey to learn more about the medical condition!

Thalassemia Causes

Genetic anomalies that prevent the formation of hemoglobin, the protein that carries oxygen in red blood cells, are the root cause of thalassemia. Alpha and beta-globin are the two types of protein chains that make up hemoglobin. Thalassemia can occur when the genes responsible for making these globin chains are mutated.

The two main types of thalassemia, alpha-thalassemia, and beta-thalassemia, are caused by mutations in different sets of genes:

Alpha-Thalassemia

The HBA1 and HBA2 genes, which contain the instructions for making alpha globin chains, are mutated in alpha thalassemia. The number of defective alpha globin genes present determines how severe alpha thalassemia is. The alpha-globin gene is duplicated four times (two from each parent). The condition is divided into four major categories based on the number of affected genes: silent carrier (one affected gene), alpha thalassemia trait (two affected genes), hemoglobin H disease (three involved genes), and hydrops fetalis (all four genes affected).

Beta-Thalassemia

Beta Thalassemia is caused by HBB gene mutations, which are responsible for generating beta globin chains. The individual mutation and the number of beta-globin genes involved determine the severity of beta-thalassemia. When both copies of the HBB gene are faulty, both copies of the HBB gene produce little or no beta globin. When one HBB gene is missing, it results in a minor beta-thalassemia, commonly known as a beta-thalassemia trait.

Thalassemia is commonly inherited in an autosomal recessive form, meaning two faulty copies of the gene—one from each parent—would have been inherited. If a person gets only one defective gene, they are designated carriers of the thalassemia trait and may or may not exhibit symptoms.

Get the best treatment for thalassemia in Istanbul. Contact us today!

Thalassemia Treatment

The primary methods of thalassemia treatment are as follows:

Blood Transfusions

Regular blood transfusions are a typical treatment for those with mild to moderate thalassemia. Healthy red blood cells with proper hemoglobin are given through transfusions to replace the inadequate or abnormal ones. It enhances the body's ability to transfer oxygen and lessens anemia. A frequent transfusion schedule, however, can result in iron overload, which calls for extra care.

Iron Chelation Therapy

People with thalassemia who receive frequent blood transfusions may build up too much iron in their bodies, which could harm their organs. Using drugs to assist in eliminating extra iron from the body and lower the risk of iron-related problems is known as iron chelation therapy.

Folic Acid Supplements

To support red blood cell synthesis and lower the risk of specific problems, folic acid supplements are frequently administered to people with thalassemia.

Stem Cell Transplantation

In some severe cases of thalassemia, a bone marrow or stem cell transplant may be an option. Treating thalassemia entails replacing the defective bone marrow stem cells with healthy ones from compatible donors.

Gene Therapy

Gene therapy is a newly developed therapeutic strategy that tries to fix the genetic abnormalities that cause thalassemia. It requires modifying the patient's stem cells outside the body before returning them to produce healthy hemoglobin.

Splenectomy

When splenomegaly (an enlarged spleen) is severe and causes discomfort or difficulties, the spleen is surgically removed.

Supportive Care

Managing thalassemia frequently entails a multidisciplinary approach, including routine checkups with the doctor, nutritional assistance, and psychiatric counseling to address the condition's psychosocial effects.

Book a consultation today with a doctor in Istanbul to know more about your treatment options!

MLP For Thalassemia Treatment

Medical Park facilities are a top option for thalassemia treatment in Turkey. They provide dependable, high-quality care with 27 hospitals, more than 2500 doctors, 5300 beds, and 210 sterile operating rooms. Patient safety is their top focus, and they have 25 years of expertise and several international certifications, including JCI. They also stay current with technological developments to provide comprehensive, cutting-edge medical treatments. Check with our medical experts in Istanbul to learn about Thalassemia treatment prices in Turkey 2023!