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hy are some people born without β-thalassemia
Beta thalassemia is a blood disease caused by genetic factors. It is characterized by reduced or missing beta globulin synthesis in the human body. This condition can lead to different clinical manifestations. According to research, the annual global incidence of this condition is approximately one case per 100,000 people. Yet why are some people naturally able to escape its effects and appear asymptomatic? This issue has attracted the attention of many scholars.
Basic concepts of beta thalassemia
Beta thalassemia is a group of inherited blood disorders that are generally divided into three main types: beta thalassemia minor, beta thalassemia medium, and beta thalassemia major. Symptoms of these types range from no symptoms or mild discomfort to severe anemia requiring lifelong blood transfusions, with severe cases being the most severe. Depending on the pathogenesis, beta thalassemia can be caused by different types of genetic mutations that interfere with normal beta globin synthesis.
Effects of mutations
Mutations are mainly divided into two categories: non-deletion mutations and deletion mutations. Non-deletion mutations usually involve the substitution of a single base or a small insertion, while deletion mutations involve the deletion of an entire gene. Depending on the nature of the mutation, patients may exhibit different clinical symptoms. Some people, despite having mutations, are able to synthesize beta globulin in a normal way, allowing them to survive without the need for special medical treatment.
Innate escape mechanism
Some studies have pointed out that variations in certain genes can provide protection and help individuals resist the effects of beta thalassemia.
This protective effect may be due to increased levels of hemoglobin F (fetal hemoglobin). Fetal hemoglobin has a higher affinity for oxygen than adult hemoglobin, meaning it can continue to carry oxygen efficiently in the absence of normal adult hemoglobin. Therefore, if the mother who conceived the fetus carries certain gene mutations for beta thalassemia, she may unconsciously provide some protection to the fetus, resulting in a relatively healthy child after birth.
Risk factors and ethnicity
The risk of beta thalassemia is significantly increased based on family history. Certain ethnic groups, such as Italians, Greeks, Middle Easterners and South Asians, are more likely to carry the beta thalassemia gene variant. Interestingly, even if the overall gene mutation rate of a certain group is high, there are still some individuals who escape the effects of the disease due to different gene combinations.
The significance of health testing
Prenatal screening and genetic testing are of great significance in the early detection and prevention of β-thalassemia. With effective screening, future generations may be able to avoid the threat of this disease. Medical experts recommend that people with a family history should get genetic testing to learn about their carrier status.
Conclusion
Exploring and understanding the potential protective mechanisms of this type of disease may contribute to future medical strategies and disease management.
So, does this mean that it is possible for the scientific community to find new ways to treat or prevent beta thalassemia through these discoveries?
