Understanding the causes and symptoms of thalassemia is important if you suspect that you or your child may have this disorder. Learn about prevention and treatment options. A child with this disorder may inherit a mild or severe form, which requires the care of numerous specialists. Blood transfusions from healthy donors are sometimes required. How often they must give depends, on the type of thalassemia and the severity of the patient’s condition.
Symptoms
Thalassemia occurs when the bone marrow does not produce enough healthy hemoglobin, which requires to form red blood cells. This abnormal hemoglobin causes the red blood cells to break down and cannot reach all the necessary parts of the body. This causes anemia and fatigue. While mild cases do not require treatment, more severe ones require frequent blood transfusions. Most cases are diagnose by the time a person reaches age two. In people who do not show any symptoms, however, genetic testing can reveal that they are carriers of the disorder.
In order to diagnose thalassemia, a blood sample is taken from the patient. The sample will send to a laboratory for tests that will determine whether the blood contains an abnormal hemoglobin. A laboratory technician will examine the blood under a microscope. The abnormal red blood cells will examine using a technique called hemoglobin electrophoresis. The results of this test will indicate the type of thalassemia a person has.
If an individual has thalassemia, he or she must get a test before getting pregnant. This is a necessary part of the prenatal process since a pregnant woman with thalassemia is at higher risk for developing the disease. Testing will also determine the severity of the disease, which may cause life-threatening complications. Fortunately, there are treatments available for thalassemia. Moreover, a healthy diet can help the patient cope with the disease.
Thalassemia can also affect a child’s growth. It delays puberty and can affect the development of the child’s bones. It also affects the spleen, the organ responsible for recycling red blood cells. If the condition is left untreated, the spleen will become overactive and enlarged. Patients with severe thalassemia often require blood transfusions to stay alive.
Infections are one of the main causes of illness for people with thalassemia. They are the second leading cause of death for this condition. People with this disorder are more susceptible to infections, especially if they have their spleen removed. Those with thalassemia also have a greater chance of contracting a bone infection.
Causes
Despite being a genetic disorder, there are ways to prevent and treat thalassemia. One of these is a low-iron diet and lifestyle. Your doctor will also run blood tests to check for abnormal haemoglobin levels. The tests will also include genetic DNA mutation analysis and a physical examination of your spleen. If you are pregnant, you should also get prenatal screening.
Some of the complications of thalassemia can include bone deformities. In infants, thalassemia can lead to enlargement of the spleen, which can cause thin, brittle bones. It can also cause a heart problem or shortness of breath. Severe cases of thalassemia can even lead to death.
Children with thalassemia can inherit one or two mutated genes from their parents. Two mutated genes can cause mild thalassemia, whereas three or four mutated genes can result in severe hemoglobin deficiency. Children who inherit four or more mutated genes may develop the disorder later in life and require lifelong transfusions. In some cases, stem cell transplants can perform to treat thalassemia.
Thalassemia is an inherited blood disorder that affects the production of red blood cells. In severe cases, reduced red blood cells cause anemia, which can lead to a person passing out. Severe cases can also lead to extensive organ damage and even death. Though thalassemia is not a common disease, it can be fatal in severe cases. There are no known cures, but thalassemia is a lifelong condition that requires medical attention.
The primary cause of thalassemia is a mutation in the genes that make the alpha and beta haemoglobin chains. The condition can affect either of these chains or all three, and it is not entirely clear which is the most common form. In some cases, only one parent may affect by the disease, while others have one or more mutations.
Treatments
Treatments for thalassemia vary from person to person and depend on the severity and type of thalassemia a person has. For mild thalassemia, there may not require any treatment, but for severe cases, patients may need blood transfusions or medicines to treat the disorder. Other treatment options may include splenectomy or a blood and bone marrow transplant.
Thalassemia is a rare disorder that causes anemia in blood cells. It causes by a defect in the bone marrow’s ability to produce hemoglobin and healthy red blood cells. This leads to anemia and a lack of energy. The NHS estimates that there are around 1,000 patients with severe beta-thalassemia in the United Kingdom. Most cases are found in the Mediterranean, the Middle East, and South Asia. Pregnancy screening can detect thalassemia in women during the prenatal stage. Blood tests are included in routine screening for pregnancy, so if a pregnancy is abnormal, the woman should seek medical attention as soon as possible.
A blood test may reveal thalassemia if your hemoglobin or red blood cells are low. During the exam, doctors will also check for any other problems. If you have low hemoglobin, you may need frequent blood transfusions to maintain the proper hemoglobin levels and red blood cells. These procedures may perform once or twice a month or more frequently for severe thalassemia patients.
The severity of thalassemia depends on the level of the gene defect in the hemoglobin. If you have only one defective alpha gene, you’ll have mild symptoms and may not need treatment. If you have two or more defective genes, your symptoms are more severe and may even lead to your death.
Treatments for thalassemia can include chelation therapy, which removes excess iron from the body. Some patients even build up their iron levels naturally without receiving blood transfusions. Other options include maintaining a healthy diet, regular exercise, and not smoking. However, only a bone marrow or stem cell transplant will completely cure thalassemia.
While blood transfusions are not a cure for thalassemia, they can be life-sustaining for some patients. Aside from treating the physical symptoms, these treatments can also reduce the risk of iron overload in the body, which may lead to insidious complications.
Prevention
The prevention of thalassemia is an important issue. There are several prevention modalities, including screening during pregnancy. However, social taboos often limit the ability to detect thalassemia before conception or marriage. Therefore, screening during pregnancy is the preferred method. Moreover, prenatal diagnosis is costly and not widely available.
A major component of prevention programs is education. This goal is best achieved through regular meetings, educational materials, and social media. In Mediterranean countries, intensive educational initiatives aim at healthcare providers. They also use posters and other educational material placed in strategic locations to spread awareness. This type of education is critical in preventing thalassemia in pregnant women and children.
A healthy diet and regular exercise can help prevent and manage symptoms. However, heavy exercise can worsen symptoms. Moderate exercises such as walking, biking, swimming, or yoga are recommended. If thalassemia is not treated early, it can cause serious health issues and even death. However, thalassemia can successfully manage with proper diet and exercise.
Various blood tests are conducted to diagnose thalassemia. These tests measure the amount of red blood cells and hemoglobin in the blood. In some cases, genetic testing may also perform to identify whether a person has the disease. Amniocentesis, a procedure in which the fluid surrounding the unborn baby is collected, is another test that can conduct for thalassemia.
A doctor may recommend a course of treatment based on the specific thalassemia type you have. In some cases, surgery may be necessary. In some cases, severe thalassemia can lead to complications, including abnormal heart rhythms and heart failure. However, prevention is not possible in most cases. Genetic counseling should sought if a family member affects by thalassemia.
Symptomatic thalassemia is a genetic disease that affects the red blood cells. People with this disease have low levels of hemoglobin. This is important because hemoglobin helps red blood cells carry oxygen throughout the body. With thalassemia, the patient may experience fatigue, shortness of breath, or anemia.
