What is Thalassemia?
Thalassemia, also known as Mediterranean Anemia, is a genetic disease that results in the inability of the body to produce blood normally. This occurs due to an abnormality in the structure of a protein called hemoglobin, which is necessary for carrying oxygen in our blood.
Thalassemia is named after the Mediterranean region where it is commonly seen, and it is caused by the inheritance of mutated genes from one or both parents. These genes are normally used to code for the structure of hemoglobin, but in thalassemia patients, one or more of these genes have undergone a mutation.
What is Thalassemia and its Causes?
Thalassemia is a genetic disease caused by abnormal genes that code for the production of hemoglobin protein. Hemoglobin is essential for carrying oxygen in the blood. In normal individuals, the genetic code in hemoglobin proteins allows for the production of normal hemoglobin chains. However, in thalassemia patients, there is a mutation in these genes which prevents the production of normal hemoglobin chains.
Thalassemia is classified into two main types: alpha and beta thalassemia. Alpha thalassemia results from an abnormality in the production of alpha globin chains, while beta thalassemia is caused by a mutation in beta globin chains.
Abnormal genes can be inherited from either one or both parents. If both parents have normal genes, then their children are not at risk of having thalassemia. However, if one parent has an abnormal gene and the other has normal genes, there is a chance that their children will be carriers of the disease. If two carrier parents have children together, there is a 25% chance that their child will have thalassemia.
Thalassemia is particularly prevalent in the Mediterranean, Middle East, and Asia. In these regions, the number of individuals with abnormal genes is higher than that of the normal population.
Types of Thalassemia
There are three types of Thalassemia: Alpha Thalassemia, Beta Thalassemia, and Hemoglobin E Thalassemia.
Alpha Thalassemia: This type of Thalassemia results from a mutation in the production of alpha globin chains, which are normally involved in the production of red blood cells. The different variants of this type range from the mildest form to the most severe form. Hydrops fetalis is the most severe form and is known to be a fatal condition in babies.
Beta Thalassemia: This type of Thalassemia results from a mutation in the production of beta globin chains, which are normally involved in the production of red blood cells. There are different variants of this type. Beta Thalassemia Major is the most severe form and can cause symptoms such as severe anemia, inadequate growth and development, bone deformities, and enlargement of the liver and spleen in the first years of life. Beta Thalassemia Minor is a milder form and usually does not cause symptoms.
Hemoglobin E Thalassemia: This type of Thalassemia results from a mutation in which Hemoglobin E, a variant of hemoglobin that is normally produced instead of a beta globin chain, is produced. There are different variants of this type, and symptoms can vary from person to person.
All three types can cause various symptoms as they lead to inadequate or abnormal production of red blood cells. However, symptoms can vary depending on the type, severity of the disease, and individual factors.
Symptoms of Thalassemia
Symptoms of the disease can vary depending on the severity and type of thalassemia, but typically include pale skin, fatigue, weakness, shortness of breath, and heart problems. Treatment can be done through methods such as blood transfusions, bone marrow transplants, and certain medications.
Thalassemia, also known as Mediterranean anemia, occurs when there are abnormalities in the hemoglobin protein, resulting in the inability for blood to be produced normally. Symptoms of the disease can vary depending on the severity and type of thalassemia. Some people may experience mild symptoms while others may experience more serious symptoms that can be life-threatening. Symptoms include:
Fatigue, weakness, and rapid breathing
Pale skin
Weight loss and insufficient growth (in children)
Bone pain and fractures
Enlarged liver and spleen
Loss of appetite and abdominal pain
Heart problems and heart failure
Yellowing of the skin (jaundice)
Dark urine
Susceptibility to infections
These symptoms can vary depending on the severity and type of the disease. Therefore, individuals who suspect they may have thalassemia should consult their doctors and take the necessary steps for diagnosis and treatment.
Diagnosis of Thalassemia
can be made using various methods such as blood tests and genetic tests. The diagnosis is made using medical tests such as genetic tests and blood tests starting from the symptoms.
A blood test called Hemoglobin Electrophoresis can be used to determine the type of thalassemia. This test distinguishes between different types of hemoglobin proteins and determines the ratio of normal and abnormal hemoglobin types.
The patient can also learn if they are a carrier of thalassemia by undergoing a genetic test. This test identifies mutations that cause the formation of abnormal hemoglobin chains by analyzing the genetic material in the patient's blood sample.
Additionally, if thalassemia carrier status is detected during childhood, early intervention and treatment plans can be made to prevent the onset of thalassemia disease.
After the diagnosis, doctors work to control patients' symptoms and improve their quality of life by suggesting appropriate treatment options.
Treatment Options for Thalassemia
Treatment options for thalassemia depend on the severity of the disease, symptoms, and age of the person. Treatment options may include:
Blood transfusions: People with thalassemia may need regular blood transfusions. This helps to control anemia and reduce the severity of symptoms. However, long-term blood transfusions can lead to excessive iron accumulation in the body.
Iron-chelating drugs: Regular blood transfusions can cause excessive iron accumulation in the body, which can lead to various health problems. Iron-chelating drugs are used to reduce the excessive amount of iron in the body.
Bone marrow transplantation: Bone marrow transplantation can be used as a treatment option for severe cases of thalassemia. Bone marrow transplantation involves replacing the patient's bone marrow cells with healthy bone marrow cells. This can help to control thalassemia symptoms.
Gene therapy: This is a new treatment method. Diseased cells are transformed into healthy cells. Healthy cells are then injected into the patient's bone marrow, which can help to control thalassemia symptoms.
Thalassemia treatment requires a treatment plan that combines a variety of treatment methods instead of a single approach. Therefore, doctors can personalize the treatment plan for patients and recommend an appropriate treatment option based on the severity of the disease, symptoms, and age.
How to Prevent Thalassemia?
Thalassemia, also known as Mediterranean Anemia, is a hereditary disease, therefore it cannot be completely prevented. However, preventive measures can be taken due to the prevalence of the disease and the increased risk of consanguineous marriage.
Genetic counseling: It is important for couples at risk of thalassemia to receive genetic counseling to determine if their baby is a carrier of the disease. If one partner is a carrier, the other should also be tested. This allows for a birth plan that can help reduce the risk of thalassemia in offspring.
Prenatal testing: If the mother-to-be is a carrier or at risk of the disease, pre-pregnancy testing can detect whether the fetus is a carrier or affected by the disease. This provides information on whether the child will have thalassemia and helps take necessary precautions.
Newborn screening: Many countries perform newborn screening to detect carriers or affected individuals of thalassemia. Early diagnosis allows for prompt treatment to prevent disease progression.
Avoiding consanguineous marriages: Thalassemia may be more prevalent due to consanguineous marriages. Therefore, avoiding such marriages can help reduce the risk of thalassemia.
In summary, thalassemia is not a completely preventable disease, but preventive measures such as genetic counseling, prenatal testing, newborn screening, and avoiding consanguineous marriages can be taken to reduce its prevalence.