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Did you know how beta thalassemia causes an 'iron overload' crisis in the body?
Beta thalassemia is a hereditary blood disease mainly caused by reduced or missing synthesis of hemoglobin beta chains. Symptoms of this disease range from severe anemia to clinically asymptomatic individuals, with an annual global incidence of approximately 1 case per 100,000 people. As the disease progresses, patients' quality of life and life safety are often threatened, especially with the emergence of iron overload, which has attracted widespread concern in the medical community.
In the case of beta thalassemia, the body is unable to efficiently produce adult hemoglobin (HbA) due to insufficient beta chain synthesis. This will lead to ineffective production of red blood cells, increased hemolysis and abnormal iron metabolism.
Types of beta thalassemia
There are three main types of beta thalassemia: mild, severe and moderate. People with beta thalassemia major (also called beta thalassemia major) typically develop severe anemia, stunted growth, and skeletal abnormalities within the first two years of life. If left untreated, beta thalassemia major can lead to fatal heart failure, so screening during pregnancy is especially important.
People with beta thalassemia intermedia develop the disease later in life and usually exhibit mild to moderate symptoms of anemia and require regular monitoring.
Main causes of iron overload
Patients often require multiple blood transfusions to maintain normal hemoglobin levels, but this also increases the iron load in the body. Due to the excess iron introduced by blood transfusions, the body has no natural mechanism to eliminate excess iron, thus causing health problems. The most serious consequences may include liver disease, heart problems, and endocrine disorders.
Risk of iron overload
Iron overload can lead to a range of serious health problems, such as liver fibrosis, cirrhosis and even liver cancer. In terms of the heart, it can cause heart failure, arrhythmia and other diseases. Other symptoms patients may experience include physical fatigue, developmental delays, bone pain, etc.
With the inability to effectively excrete excess iron, patients face serious health risks that develop over time.
Diagnosis and Screening
The diagnosis of beta thalassemia relies on a series of clinical examinations and laboratory tests, including complete blood count, hemoglobin electrophoresis, etc. These tests can confirm hemoglobin A2 and F levels to help doctors diagnose the condition. Regular genetic screening can effectively prevent and detect high-risk groups early.
Treatment methods
For patients with beta thalassemia major, regular blood transfusions are usually required to maintain hemoglobin levels. Additionally, iron chelation therapy is needed to prevent other health problems caused by iron overload. Currently, the main iron chelators include deferoxamine, deferiprone, etc.
Future Outlook
With the rapid development of gene therapy and new treatment methods, the medical community is full of hope for the treatment of β-thalassemia. The latest gene editing technology promises to provide revolutionary treatments for patients.
Prevention and early treatment of beta thalassemia and the iron overload problems it causes are crucial to improving the quality of life of patients.
Like many genetic diseases, how can the health challenges posed by beta-thalassemia not cause us to think deeply?
