Thalassemia is a genetic blood disorder that affects hemoglobin, often requiring regular blood transfusions and treatment such as chelation therapy and bone marrow transplantation. Symptoms include anemia, jaundice, and stunted growth. Diagnosis is done through blood tests. Complications can lead to premature death, but can be managed with appropriate treatment.
Thalassemia is a serious disease that affects the physical presentation and composition of an individual’s blood hemoglobin. Recognized as a genetic condition, thalassemia carries a high mortality rate often requiring regular blood transfusions to increase life expectancy. In addition to blood transfusions, treatment of this condition may also require the application of chelation therapy and bone marrow transplantation. Left untreated, this condition can increase your susceptibility to infection, organ failure, and anemia.
Many who acquire this disorder may experience a yellowing skin tone, a condition known as jaundice, due to the presence of elevated levels of bilirubin in their system caused by the thalassemia-induced assault on their red blood cells. Often showing signs of the disorder soon after birth, children with this disorder may show facial deformities and exhibit stunted growth. Additional signs of this blood disorder include chronic fatigue, persistent headaches, and shortness of breath.
In the presence of this inherited autosomal recessive blood disorder, the oxygen-carrying hemoglobin shows an abnormal physical presentation and chemical composition. Under normal circumstances, the protein hemoglobin is composed of both beta and alpha globin; however, in the presence of thalassemia one of the globins is missing or changed. The mutation of the chromosomal gene damages and eliminates red blood cells causing the onset of anemia.
The condition is usually diagnosed as a major or minor presentation, depending on the severity of the symptom presentation and whether the individual inherited the defective gene from one or both parents. As with many inherited conditions, such as sickle cell disease, an individual can inherit the mutated gene from one parent and remain a carrier, or inherit one defective gene from each parent and become symptomatic. Those who remain carriers often remain asymptomatic, meaning they do not experience any symptoms.
There are several diagnostic blood tests that can be done to confirm the presence of the disorder. Generally, a physical exam will detect abdominal distention resulting from inflammation of the spleen, often prompting the administration of a battery of blood tests to evaluate the presentation of hemoglobin in the individual’s blood. Tests performed frequently include a complete blood count (CBC) and hemoglobin electrophoresis.
Thalassemia is known to cause premature death in young adults. Individuals with this condition are often more susceptible to serious complications, including infections and organ failure. These complications, which frequently occur during young adulthood, can be discouraged with appropriate treatment, usually centered on regular blood transfusions. Some individuals may also undergo chelation therapy and a bone marrow transplant to help stabilize their condition and manage symptoms. Complications associated with thalassemia often include increased susceptibility to infection and organ damage due to prolonged presence of high iron levels.
Protect your devices with Threat Protection by NordVPN
