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Hemoglobinopathy is an inherited condition where the globin chains are malformed, causing medical symptoms. Treatment options are available, but the underlying problem cannot be cured. Sickle cell disease and hemoglobin C disease are examples of hemoglobinopathy, while thalassemias involve normal globins being produced in low numbers. Blood tests can determine if treatment options are available. Hemoglobinopathy is studied globally to understand its expression and inheritance, including racial connections with various diseases.
Hemoglobinopathy is an inherited condition in which the structure of the globin chains is abnormal and causes the development of medical symptoms, with a number of genetic disorders known to involve malformed globin chains. Many patients have variants of the normal globin chain structure without experiencing symptoms, and their conditions are not considered hemoglobinopathies because they do not manifest the disease. The severity of a patient’s condition can vary, depending on the type of abnormality, and treatment options may be available, although the underlying problem cannot be cured.
In patients with hemoglobinopathies, the genes inherited to provide instructions on the creation of globin chains are incorrect in nature. Two common examples of hemoglobinopathy are sickle cell disease and hemoglobin C disease. The patient may experience anemia, bleeding and clotting problems, and other problems. Conversely, thalassemias, another family of inherited blood disorders, involve normal globins being produced in low numbers, causing the patient to develop anemia.
If a doctor suspects a patient has hemoglobinopathy based on a family history of symptoms, blood may be drawn and evaluated in a laboratory. Sometimes clear structural differences can be seen under a microscope, and in other cases it may be necessary to analyze the blood more thoroughly. This will be used to provide insight into the nature of the disorder and to determine if treatment options are available. Although the patient may not start making the right globin chains, blood products may be available to counteract anemia and other problems.
The structure of the globin chains is complex, and the development of hemoglobinopathy can be the result of any number of errors. Sometimes spontaneous mutations arise, and in other cases, patients may have a family history of the disease. People from particular regions are often at risk for specific hemoglobinopathies, as they sometimes confer a survival advantage. People who carry the sickle cell trait, for example, are more resistant to malaria, leading to increased survival of people with this gene in malaria-prone areas and a corresponding risk of having children with full-blown sickle cell disease due to heredity of the sickle cell gene. gene from both parents.
The study of hemoglobinopathy takes place in different regions of the world as people examine how these conditions are expressed and inherited. The researchers are also interested in learning more about the racial connections with various diseases, as this may provide insight into why they developed in the first place and why they persist despite being clearly deleterious. This can also help people identify patients at risk for particular blood disorders based on racial origin and family history.
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