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Haemoglobinopathy diagnosis refers to the identification and evaluation of inherited disorders affecting haemoglobin, the protein in red blood cells responsible for carrying oxygen throughout the body. These conditions include disorders such as thalassemia and sickle cell disease and may result in anaemia, fatigue, or other complications. Diagnosis typically involves clinical assessment and laboratory investigations, including a complete blood count, peripheral blood smear, haemoglobin analysis, and, when required, genetic testing. Early and accurate diagnosis helps guide appropriate treatment, monitoring, and long-term management.
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