Haemoglobin C disease is an inherited haemoglobinopathy caused by a mutation in the beta-globin gene. The mutation changes the structure of the haemoglobin molecule and can cause a range of clinical symptoms, including mild to severe anaemia, jaundice and splenomegaly.
Haemoglobin C disease is usually diagnosed through a combination of clinical evidence, family history, and laboratory testing. The most common laboratory tests used to diagnose the condition are complete blood count (CBC), haemoglobin electrophoresis, and haemoglobin mutation analysis.
Differential diagnosis of Haemoglobin C disease includes other haemoglobinopathies, such as sickle cell anaemia and thalassaemia.
Treatment of Haemoglobin C disease is usually supportive and involves managing symptoms with medications and lifestyle changes. Folic acid supplementations and hydroxyurea may be prescribed to reduce the risk of complications. In some cases, a blood transfusion may be necessary.
The prognosis for Haemoglobin C disease is generally good, though it may vary depending on the severity of the condition and the individual’s response to treatment. With proper management, symptoms can be managed and life expectancy is usually normal.