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Thalassemia is a genetic disorder that affects the body’s ability to produce hemoglobin. Hemoglobin is the protein found in red blood cells responsible for carrying oxygen throughout the body. This condition can lead to severe anemia, and in some cases, even death.
While the condition is often inherited, it can also be acquired in certain cases. In this article, we’ll explore the difference between inherited and acquired thalassemia, and how to identify which form of the disorder you have.
Genetic Inheritance Of Thalassemia:
Thalassemia is inherited from both parents. A person can be a carrier of thalassemia, meaning they have one copy of the mutated gene. If both parents are carriers, there is a 25% chance that their child will have the condition. If only one parent is a carrier, there is a 50% chance that their child will have thalassemia.
What Is Inherited Thalassemia?
Inherited thalassemia is a genetic disorder that is passed down from parent to child. It is caused by a genetic mutation in either the alpha or beta globin gene, which is responsible for producing hemoglobin. This type of thalassemia is most commonly found in people of Mediterranean and Asian descent, although it can affect people of any ethnic background.
Two Main Types Of Inherited Thalassemia:
There are two main types of inherited thalassemia:
- Alpha thalassemia
- beta-thalassemia
Alpha thalassemia is caused by a mutation in the alpha globin gene and is usually milder than beta thalassemia. Beta thalassemia is caused by a mutation in the beta-globin gene and is usually more severe.
What Is Alpha Thalasemmia?
Alpha Thalassemia is caused by a mutation in the alpha-globin gene. This type of Thalassemia is inherited in an autosomal recessive manner, meaning both parents must pass on the mutated gene for the disorder to be present in a child. Alpha Thalassemia can be either mild or severe, depending on how many copies of the mutated gene a person has.
What Is Beta Thalassemia:
Beta Thalassemia is caused by a mutation in the beta-globin gene. This type of Thalassemia is inherited in an autosomal dominant manner, meaning only one parent needs to pass on the mutated gene for the disorder to be present in a child. Beta Thalassemia can be either mild or severe, depending on the severity of the mutation.
What Is Acquired Thalassemia?
Acquired thalassemia is a form of the disorder that is not inherited, but rather develops due to environmental factors. This type of thalassemia can be caused by certain medications, such as chemotherapy, or certain medical conditions, such as anemia or iron deficiency.
Unlike inherited thalassemia, acquired thalassemia is not caused by a genetic mutation. Instead, it is caused by a lack of iron in the body, which can be caused by a number of factors. For example, if a person does not get enough iron from their diet, or if their body is not absorbing enough iron, it can lead to an iron deficiency, which can cause acquired thalassemia.
How To Identify Which Form Of Thalassemia You Have?
If you have been diagnosed with thalassemia, your doctor will be able to identify which type of thalassemia you have. In order to do this, he/she will order a blood test to check for the presence of abnormal hemoglobin levels.
If you do have inherited thalassemia, your doctor may order a genetic test to confirm the diagnosis. This test looks for changes in the alpha or beta globin genes, which can indicate the presence of inherited thalassemia.
If you have acquired thalassemia, your doctor may order additional tests to determine the cause. These tests may include a complete blood count, a serum iron test, and a serum ferritin test.
What Type Of Thalassemia Is Inherited?
Thalassemia is an inherited blood disorder that affects the production of hemoglobin. It is caused by a mutation in the gene that makes hemoglobin. The mutation prevents the body from producing enough hemoglobin, resulting in anemia.
What Are The Symptoms Of Thalassemia?
The symptoms of Thalassemia vary depending on the severity of the disorder. Generally, the symptoms of Thalassemia include:
- Fatigue
- Weakness
- Pale skin
- Shortness of breath
- Jaundice
- Enlarged spleen
- Dark urine
What Are The Treatments For Thalassemia?
The treatment for Thalassemia depends on the severity of the disorder and the age of the patient. In mild cases of Thalassemia, treatment may involve taking iron supplements, taking regular blood transfusions, or undergoing splenectomy (surgery to remove the spleen) while severe cases of thalassemia may require regular blood transfusions, chelation therapy, and other treatments. In some cases, a bone marrow transplant may be necessary.
How Can Thalassemia Be Prevented?
The best way to prevent thalassemia is to get tested for the condition before starting a family. This can be done through a genetic test, which can detect if you or your partner are carriers. If both parents are carriers, they can choose to undergo preimplantation genetic testing to ensure that their child does not have thalassemia.
Since Thalassemia is an inherited disorder, it cannot be prevented, once a person is diagnosed with this disease. However, genetic counseling and testing can help individuals determine their risk of passing on the mutated gene to their children.
Can Thalassemia Patients Marry:
Yes, people with thalassemia can get married, but it is recommended that they seek genetic counseling before marriage to understand the risks of passing on the condition to their children.
The severity of thalassemia varies depending on the type and number of mutations in the genes that control hemoglobin production.
In general, carriers of thalassemia (people who have one mutated gene and one normal gene) are not affected by the condition and can lead normal lives. However, if two carriers of thalassemia have children, there is a 25% chance that their child will inherit two mutated genes and develop thalassemia major, which can be life-threatening. Genetic counseling can help couples understand their risk of having a child with thalassemia and explore options for family planning.
Conclusion:
Thalassemia is a genetic disorder that affects the body’s ability to produce hemoglobin. While the condition is often inherited, it can also be acquired in certain cases. Inherited thalassemia is caused by a genetic mutation in either the alpha or beta globin gene, while acquired thalassemia is caused by a lack of iron in the body.
If you have been diagnosed with thalassemia, your doctor can order a blood test to check for the presence of abnormal hemoglobin levels, and a genetic test to confirm the diagnosis if needed.
