What is Hemoglobinopathy?

Hemoglobinopathy is an inherited condition where the structure of globin chains is abnormal and causes the development of medical symptoms, with a number of genetic diseases known to involve malformed globin chains. Many patients have variants on normal globin chain structure without experiencing symptoms, and their conditions are not considered hemoglobinopathies because they do not experience disease. The severity of a patient's condition can vary, depending on the type of abnormality, and there may be treatment options available, although the underlying issue cannot be cured.

In patients with hemoglobinopathies, the genes inherited to provide instructions on making globin chains are erroneous in nature. Two common examples of hemoglobinopathy are sickle cell anemia and hemoglobin C disease. The patient can experience anemia, bleeding and clotting problems, and other issues. By contrast, thalassemias, another family of inherited blood disorders, involve normal globins produced in decreased numbers, causing the patient to develop anemia.

If a doctor suspects a patient has a hemoglobinopathy on the basis of family history of symptoms, blood can be drawn and evaluated in the lab. Sometimes, clear structural differences can be seen under the microscope and in other cases, the blood may need to be analyzed more intensively. This will be used to provide information about the nature of the disorder and to determine if treatment options are available. While the patient cannot start making the right globin chains, blood products to counter anemia and other issues may be available.

The structure of 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 disease. People from particular regions are often at risk for specific hemoglobinopathies, as sometimes they confer a survival advantage. People carrying 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 anemia as a result of inheriting the gene from both parents.

The study of hemoglobinopathy takes place in a number of regions around the world as people look into how these conditions express and are inherited. Researchers are also interested in learning more about the racial connections with various diseases, as this can provide information about why they developed in the first place and why they persist despite being clearly deleterious. This can also help people identify patients at risk of particular blood disorders on the basis of racial origin, as well as family history.