[Music] hello viewers in our last video we explained about types of thalassemia and the causes of thalassemia if you haven't watched it yet watch that video from the above link in this video we are going to explain you the whole set of tests and investigations to diagnose thalassemia let's start then first of all let's see what are the symptoms of thalassemia as thalassemia caused defective hemoglobin it reduced the level of oxygen in the bloodstream the severity of anemia depends on the severity of the disorder alpha thalassemia silent carriers generally have no symptoms of the disorder the lack of alpha globin protein is so minor that the body's hemoglobin works normally people who have alpha or beta thalassemia trait can have mild anemia however many people who have these types of thalassemia have no symptoms people who have beta thalassemia intermedia have mild to moderate anemia they also may have other health problems such as slowed growth and delayed puberty bone problems and enlargement of spleen people who have hemoglobin h disease or beta thalassemia major have severe anemia these people may have a pale and listless appearance a poor appetite dark urine due to excess red blood cells breakdown slowed growth and delayed puberty jaundice enlarged spleen liver or heart and bone problems the screening of thalassemia is primarily done along with a full medical and family history complete blood count results and blood picture findings serum iron studies are done to exclude the iron deficiency anemia in further analysis hemoglobin electrophoresis is done and in the final stages dna analysis for alpha and beta gene mutation can be done complete blood count is often the first investigation in a suspected case of thalassemia complete blood count showing low hemoglobin and low mean corpuscular volume or mcv is the first indication of thalassemia after ruling out iron deficiency as the cause of anemia the menser index can be used to differentiate thalassemia and iron deficiency anemia by looking at the complete blood count results menser index is calculated by dividing mean corpuscular volume by red cell count immense or lower than 13 suggests that the patient has thalassemia and an index of more than 13 suggests that the patient has anemia due to iron deficiency a peripheral blood smear is the next to assess additional red cell properties thalassemia can present a blood picture with microcytic red cells hypochromic red cells red cells with variation in size and shape increased percentage of reticulocytes target cells and heinz bodies serum iron ferritin unsaturated iron binding capacity total iron binding capacity and percent saturation of transferrin are the types of serum iron studies which also done to rule out iron deficiency anemia as the underlying cause erythrocyte porphyrin levels may be checked to distinguish an unclear beta thalassemia minor diagnosis from iron deficiency or lead poisoning individuals with beta thalassemia will have normal porphyrin levels but those with the iron deficiency or lead poisoning will have elevated porphyrin levels hemoglobin electrophoresis assesses the type and relative amounts of hemoglobin present in red blood cells hemoglobin a composed of both alpha and beta-globin chains is the type of hemoglobin that typically makes up 95 to 98 of hemoglobin for adults hemoglobin a2 is normally two percent to three percent of hemoglobin while hemoglobin f usually makes up less than two percent of hemoglobin in adults patients with the beta thalassemia major usually have larger percentages of hemoglobin f and hemoglobin a2 and absent or very low hemoglobin a those with beta thalassemia minor usually have a mild elevation of hemoglobin a2 and mild decrease of hemoglobin a hemoglobin h is a less common form of hemoglobin that may be seen in hemoglobin h alpha thalassemia these tests serve to help confirm mutations in the alpha and beta-globin-producing genes dna testing is not a routine procedure but can be used to help diagnose thalassemia and to determine carrier status if needed genetic testing of amniotic fluid is useful in those rare instances where a fetus has an increased risk for thalassemia this is particularly important if both parents likely carry a mutation because that increases the risk that their child may inherit a combination of abnormal genes causing a more severe form of thalassemia if you have diagnosed with any kind of thalassemia you should not forget to evaluate your body systems on a regular basis biliary tract and gallbladder imaging abdominal ultrasonography cardiac mri serum hormone measurements are a few examples that can be done now we think you got a clear idea about how to diagnose thalassemia and what our tests can be done for that if you feel this video is important don't forget to subscribe us and share this video with your friends bye see you soon [Music] you