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The mysterious gene for beta thalassemia: How does it affect our blood?
Beta thalassemia, as a hereditary blood disease, causes patients around the world to suffer varying degrees of health troubles due to its impact on heme synthesis. The disease results from reduced or missing synthesis of beta-globin chains, and symptoms range from mild to severe anemia, which may even lead to death. According to global estimates, the annual incidence of beta thalassemia is about 1 per 100,000 people, and its underlying cause is closely related to defects in the HBB gene.
The development of beta thalassemia depends on the nature of the mutation, and as the disease progresses, patients may require repeated blood transfusions to maintain adequate heme levels.
Currently, the disease is divided into three main types: beta thalassemia minor, beta thalassemia medium and severe. Severe cases typically experience severe symptoms within the first two years of life, including anemia, growth retardation, and skeletal deformities. When left untreated, patients with severe disease often face serious consequences of heart failure. Therefore, prenatal screening is crucial to identify high-risk pregnant women early.
In addition, because of the genetic nature of beta thalassemia, the related health history in many families is also an important consideration in preventing the disease.
The impact of genetic mutations
Beta thalassemia mutations can be divided into two categories: non-deletion mutations and deletion mutations. These mutations mainly affect the synthesis of the beta globin gene and may be caused by a single base substitution or the deletion of a gene segment. These abnormalities directly affect the composition of heme, which in turn affects the body's ability to transport oxygen.
Mutations can be divided into β0 and β+ types. The β0 type mutation completely interrupts the synthesis of β, while the β+ type causes partial synthesis.
Diagnosis and Screening
Diagnosis of beta thalassemia usually relies on clinical symptoms and multiple blood tests. Tests such as a complete blood count, hemoglobin electrophoresis, and serum iron levels are important diagnostic tools. Patient studies have shown that patients with beta thalassemia have increased heme A2 levels, accompanied by a slight increase in HbF.
Therefore, early screening is crucial especially for candidates with a family history of the disease, which will help reduce the risk of future generations developing the disease.
Treatment methods
Currently, the main treatment for severe patients with β-thalassemia is regular blood transfusions, and the use of iron-removing agents to reduce the damage caused by iron overload. Whole blood stem cell transplantation may be a curative treatment in some cases, especially if a suitable stem cell donor is available. Gene therapy has also received attention in many studies, which could theoretically restore normal heme synthesis by repairing mutations.
Another important development is the treatment created by CRISPR gene editing technology, which will hopefully open a new chapter in the treatment of beta thalassemia.
Future Outlook
Although currently available treatments can improve patients' quality of life, treatment of beta thalassemia still faces challenges. How to effectively manage the disease and reduce the side effects of treatment is still a difficult problem that scientists and doctors need to face together. As genetic testing and technology evolve, can we find more effective treatment options in the future, or even break through traditional treatment boundaries?
