Thalassemia- Genetic Disorder
Thalassemia is an inherited blood disorder. It causes your body to have less amount of hemoglobin than normal. Hemoglobin helps red blood cells to transport oxygen. Thalassemia usually causes anemia as a result of which you feel fatigued. If you are suffering from mild thalassemia, then you might not require a treatment. But the severe forms of Thalassemia require regular transfusion of blood. You can choose steps to cope with fatigue by selecting a healthy diet and exercising regularly.
What Are The Causes And Types Of Thalassemia?
Thalassemia is caused by mutations in the DNA of cells that make hemoglobin that can be passed from parents to children i.e., a genetic disorder. Molecules of hemoglobin are composed of chains known as alpha and beta chains that can be affected by mutations. In thalassemia, the production of either the alpha or beta chains are reduced which results in either alpha-thalassemia or beta-thalassemia. In alpha-thalassemia, the complexity of thalassemia you have depends on the quantity of gene mutations you receive from your parents. If there are more mutated genes, then your thalassemia would be more severe. In beta-thalassemia, the severity depends upon the part of the hemoglobin molecule that is affected.
Are There Any Symptoms Of Thalassemia?
The signs and symptoms you possess depend on the type and severity of your disease. These signs and symptoms can include fatigue, weakness, pale or yellowish skin, facial bone deformities, slow growth, abdominal swelling, and dark urine etc. Some babies show thalassemia signs and symptoms just after birth while others develop them during the first two years of life. Some people who have only one affected hemoglobin gene do not have thalassemia symptoms.
What Are the Risk Factors of Thalassemia?
The only factor that increases your risk of thalassemia includes family history. Thalassemia is inherited by children from their parents through mutated hemoglobin genes. Thalassemia occurs mostly in African Americans and in people belonging to Mediterranean and Southeast Asian descent.
Are There Any Complications of Thalassemia?
Every disease has its own set of complications. Therefore, thalassemia also has some possible complications. Most common complication is iron overload. If you have thalassemia, then you will notice high levels of iron in your body that could be either from disease or from frequent blood transfusions. A high amount of iron can cause damage to your heart, liver, and even endocrine system, which includes hormone-producing glands that helps in regulating processes throughout your body. In cases of severe thalassemia, another complication can occur like bone deformities.
Thalassemia can expand your bone marrow as a result it causes your bones to widen. This can cause an abnormal bone structure, especially in your face and skull. Expansion of bone marrow also makes bones brittle and thin hence there is greater chance of bones to break. Thalassemia can also result in enlarged spleen. Spleen helps your body in fighting infection and filtering old damaged blood cells. Thalassemia is often accompanied by the destruction of many red blood cells hence causing your spleen to enlarge and work harder than normal. An enlarged spleen can worsen your anemia, and it can also decrease the life span of transfused red blood cells. If your spleen grows too large, your doctor might suggest surgery to get rid of it. Other complications include infections, stunted body growth, delayed puberty, congestive heart failure and abnormal heart rhythms.
How Is Thalassemia Diagnosed?
If your doctor is trying to diagnose thalassemia, they will likely take a blood sample. The sample will be sent to a lab to be tested for anemia and abnormal hemoglobin. A lab technician will also look at the blood under a microscope to notice the oddly shaped red blood cells. Red blood cells having abnormal shape are the major sign of thalassemia. A test may also be performed by the lab technician known as hemoglobin electrophoresis. This test separates out the different molecules in the red blood cells thus allowing the technician in identifying the abnormal type. Depending on the type and severity of the thalassemia, a physical examination can also help your doctor in making a diagnosis. For example, a severely enlarged spleen might suggest to your doctor that you are suffering from hemoglobin H disease.
Can Thalassemia Be Treated?
The treatment for thalassemia mostly depends on the severity and type of disease involved. Your doctor will give you a course of treatment that will work best for your case. Some of the treatments include blood transfusions, bone marrow transplant, medications, and possible surgery to remove spleen or gallbladder etc. Your doctor may also instruct you to not consume vitamins or supplements that contain iron. This is especially true if you need blood transfusions because people who receive them accumulate extra iron that the body cannot easily get rid off. This iron can build up in tissues and can be potentially fatal. If you are having a blood transfusion, you may also require chelation therapy. This mostly involves getting an injection of a chemical that creates a bond with iron and other heavy metals. This helps in removing extra iron from your body.
Can We Prevent Thalassemia?
Since thalassemia is a genetic disorder, there is no way to prevent it. However, there are numerous ways you can manage your disease and prevent complications. You can protect yourself from infections by keeping up with the vaccines of haemophiles influenza type b, hepatitis, meningococcal and pneumococcal etc. In addition to a healthy diet, regular exercise can also help manage your symptoms and lead to a more positive prognosis. Thalassemia can be prevented from passing into next generation by considering talking with a genetic counselor for guidance if you want to have children. Another method is assisted reproductive technology diagnosis which screens an embryo in its early stages for genetic mutations combined with in vitro fertilization. This might help parents suffering from thalassemia or who are carriers of a defective hemoglobin gene give birth to healthy babies. This procedure involves retrieving mature eggs and fertilizing them with sperm in a dish in a laboratory. The embryos are tested for the defective genes, and only those who do not have any genetic defects are implanted into the female uterus.
What Is the Life Expectancy?
Thalassemia is a major illness which can lead to life-threatening complications if it is left without being treated. Although it is difficult to pinpoint an accurate life expectancy, the general rule is that the more severe the condition, the quicker thalassemia can become fatal. According to some estimates, people with beta thalassemia which is the most severe form, typically die by age 30. The shortened life span has to do with iron overload that can eventually affect your organs. Researchers are exploring genetic testing as well as the possibility of gene therapy. The earlier thalassemia is detected, the sooner you can start your treatment. In the future, gene therapy could possibly reactivate hemoglobin and deactivate abnormal gene mutations in the body helping the individual in leading a long, healthy, and prosperous life.