All You Need to Know About Thalassemia
What is Thalassemia?
Thalassemia is a blood disorder in which the body forms an abnormal form of hemoglobin. Hemoglobin is a protein molecule present in red blood cells. It has a high affinity for oxygen and is, in fact, responsible for the movement of oxygen to all tissues of the body.
This condition destroys red blood cells, and red blood cell destruction causes anemia. Anemia is a condition characterized by a deficiency of healthy red blood cells.
It is important to note that Thalassemia is inherited. This means that at least one of your parents must be a carrier. In addition, the disease may be caused by a genetic mutation or deletion of specific key gene fragments.
Thalassemia minor is a less severe form of the disorder. However, two other formats of the disorder are more serious – alpha and Beta Thalassemia. In the alpha form, at least one alpha-globin gene is abnormal or has a mutation. In beta-thalassemia, the beta-globin genes have a defect.
Each form of the disease has a subtype. The type you have will determine the severity of your symptoms.
Symptoms of Thalassemia
There are varying symptoms. The most common symptoms include:
- Dark urine
- Facial bone deformities
- Delayed growth
- Pale or yellow skin
- Excessive fatigue and tiredness
These symptoms do not show up in everyone. Signs of the disorder also appear to show up in adolescence or late childhood.
What causes Thalassemia?
Thalassemia occurs when a mutation or abnormality in any gene regulates hemoglobin production. This genetic abnormality is inherited from the parents.
A person may have Thalassemia minor if only one of the parents is a carrier of the disorder. Therefore, people with Thalassemia minor may not have symptoms but will be a carrier of the disease. However, they may develop minor signs in some cases.
If both parents are carriers, you’ll be at risk of developing a more severe form of the disease.
Thalassemia is common among Asians, Africans, the Middle East, the Greeks, and people from Turkey.
Types of Thalassemia
There are three major types:
- Alpha (with subtypes hydrops fetalis and hemoglobin H)
- Beta (with subtypes major and intermedia)
- Thalassemia minor
The symptoms and severity of these types and subtypes vary. In addition, the onset of the disease may also vary.
Your healthcare provider will take your blood sample before diagnosing this disorder. The blood sample will be sent to a laboratory to be tested for abnormal hemoglobin and anemia. A lab technician will examine the blood to see the shape of the red blood cells.
Red blood cells with an abnormal shape are a sign of Thalassemia. The technician may also do a test known as hemoglobin electrophoresis. Hemoglobin electrophoresis separates the different molecules in the red blood cells. With this, they can identify the abnormal ones.
Your doctor may also perform a physical examination to make a diagnosis. For instance, an enlarged spleen might indicate that you have hemoglobin H.
What are the treatment options for Thalassemia?
Treatment for this condition depends on the type of disease and its severity. Your healthcare provider will design a course of treatment that is suitable for your case.
Some treatments designed for Thalassemia include:
- Bone marrow transplant
- Blood transfusions
- Surgery to remove the gallbladder or the spleen
- Supplements and medications
Your doctor may ask you to suspend taking iron supplements or vitamins. This is true for those who need blood transfusions because the recipients may accumulate so much iron that the body cannot quickly get rid of. In addition, iron can accumulate in the tissues.
People receiving a blood transfusion may also need chelation therapy. Chelation therapy involves injecting a chemical that binds with heavy metals and iron. This flushes extra iron out from your body.
Does Thalassemia affect pregnancy?
Thalassemia brings up many issues related to pregnancy. It affects the development of the reproductive organs. This explains why women with this condition may experience issues with fertility.
To ensure that you and your baby are in optimal health, you must plan. If you intend to have a baby, consult your healthcare provider and ensure that you are in optimal health.
Your doctor will carefully monitor your iron levels. They may also consider whatever issues you have had with your body organs.
Prenatal testing for Thalassemia is usually done at 11 weeks and 16 weeks. Prenatal testing is done by taking fluid samples from either the fetus (if testing is done at 16 weeks) or from the placenta (if done at 11 weeks).
Pregnant women with Thalassemia may be at risk of the following:
- Gestational diabetes
- A high risk for infections
- Low bone density
- Low thyroid (hypothyroidism)
- Heart problems
Thalassemia is a severe disorder that can cause fatal complications when undertreated or left untreated. Therefore, pinpointing an exact life expectancy is not easy. However, as a rule of thumb, the more severe the condition, the quicker the fatality rate.
Some studies estimate that people with beta-thalassemia typically die before 30. Beta thalassemia is the most severe form of Thalassemia. The short lifespan is due to iron overload, which hurts the organs.
There is ongoing research to explore genetic testing and the possibility of gene therapy. Early detection and treatment are paramount. Gene therapy may help reactivate hemoglobin and deactivate abnormal genetic mutations in the body.