Hemoglobin c disease
Hemoglobin C Disease
Hemoglobin C disease (pronounced: hee-muh-gloh-bin see dih-zeez) is a blood disorder that affects the hemoglobin in red blood cells. It is a type of hemoglobinopathy, which includes a range of conditions caused by genetic mutations affecting the structure or production of hemoglobin.
Etymology
The term "Hemoglobin C disease" is derived from the name of the affected protein, hemoglobin, and the letter "C", which refers to the specific variant of hemoglobin that is affected in this condition. The term "disease" is used to indicate a pathological condition.
Definition
Hemoglobin C disease is a condition characterized by the presence of an abnormal form of hemoglobin, known as hemoglobin C, in the red blood cells. This abnormal hemoglobin can cause the red blood cells to become misshapen and can lead to mild to moderate anemia.
Symptoms
The symptoms of Hemoglobin C disease can vary, but may include fatigue, paleness, shortness of breath, and jaundice. In some cases, individuals with Hemoglobin C disease may not experience any symptoms.
Causes
Hemoglobin C disease is caused by a mutation in the HBB gene, which provides instructions for making a component of hemoglobin. This mutation results in the production of an abnormal form of hemoglobin, hemoglobin C.
Diagnosis
Diagnosis of Hemoglobin C disease typically involves blood tests, including a complete blood count (CBC) and a hemoglobin electrophoresis test. Genetic testing may also be performed to confirm the diagnosis.
Treatment
There is no cure for Hemoglobin C disease, but treatment can help manage symptoms. Treatment options may include regular blood transfusions, iron supplements, and folic acid supplements.
See also
External links
- Medical encyclopedia article on Hemoglobin c disease
- Wikipedia's article - Hemoglobin c disease
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