Sickle Cell Thalassemia

Service Description

Biomarkers: -- Sickle Cell status -- Thalassemia status Sample: BLOOD Results: Same Day Phlebotomy fee: £0 ABOUT THE TEST: Haemoglobinopathy refers to a group of inherited blood disorders caused by genetic mutations affecting the haemoglobin molecule in red blood cells. Haemoglobin is crucial for oxygen transport in the body. The most common hemoglobinopathies are: -- Sickle Cell Disease (SCD): Here, abnormal haemoglobin (Haemoglobin S) causes red blood cells to become crescent-shaped, leading to blockages in blood vessels, pain, organ damage, and increased infection risk. -- Thalassemia: Characterized by reduced or absent synthesis of one of the globin chains that make up haemoglobin, leading to anaemia due to the destruction of red blood cells or ineffective erythropoiesis (production of red blood cells). Why is it Important to Know Before Marriage? 1. Genetic Counselling and Informed Choices: Knowing one's hemoglobinopathy status can facilitate genetic counselling. If both partners carry the genes for these conditions, their children have a 25% chance of inheriting the disease or a 50% chance of being carriers if one parent has the trait and the other has the disease. 2. Prevention of Complications During Pregnancy: Couples can prepare for potential health issues that might arise during pregnancy. For example, thalassemia can cause severe anaemia in pregnant women, necessitating special medical attention. The Screening Process: At our clinic, we use HPLC (High-Performance Liquid Chromatography), a sophisticated form of electrophoresis, to identify and quantify different haemoglobin types in the blood. This test can detect: -- Normal haemoglobin (HbA) -- Sickle haemoglobin (HbS) -- Other abnormal haemoglobins or increased levels of foetal haemoglobin (HbF) which might indicate thalassemia.