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What’s blood disease?

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Blood diseases can be congenital or acquired, affecting the blood’s ability to clot, transport oxygen, or causing cancer. Treatment focuses on managing symptoms or addressing the underlying cause. Genetic testing can identify risks early, and medical tests can diagnose symptoms.

A blood disease is a disease that affects the blood. Many blood disorders are congenital, the result of inherited genetic disorders. Others can be acquired, usually in response to some sort of stress in the body. These disorders are distinct from blood-borne diseases, diseases that are carried in the blood. One of the main differences between a blood disease and a blood borne disease is that blood diseases are not contagious.

There are four types of blood diseases. Coagulopathies are disorders involving bleeding and clotting, such as hemophilia. Anemias concern the lack of hemoglobin, a substance present in red blood cells which is essential for the transport of oxygen. Hematological malignancies such as leukemia are cancers that affect the blood and bone marrow, while hemoglobinopathies are diseases that have to do with the structure of red blood cells. Sickle cell anemia is a classic example of hemoglobinopathy.

In the case of a disease caused by genetics, treatment for the disease is usually focused on managing the symptoms to keep the patient comfortable and help them lead a normal life. In hemophilia, for example, the patient is given clotting factors so that the blood clots normally. These diseases cannot be cured, but can often be managed very effectively. With the use of gene therapy in the future, it may be possible to address the underlying cause of such disorders.

Blood disorders with external causes such as the disease leading to anemia can be treated by addressing the cause, which also resolves the disease. In blood cancers, the blood can be treated with chemotherapy and radiation to kill the malignant cells, with more extreme procedures such as bone marrow transplants and blood infusions being used in particularly aggressive cases.

Many blood disorders are identified early because the symptoms can be very debilitating for the patient. In the case of genetic disorders, people who know their children are at risk can request testing soon after birth to see if the genetic disorder is present, and some parents use genetic testing in assisted reproduction to select embryos that are free from genetic disease. In other cases, people go to the doctor for symptoms such as fatigue, pale gums, excessive bleeding or clotting, joint pain, and so on, and the disease is diagnosed with the assistance of medical tests.

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