How are Thalassemias diagnosed?
Diagnosis. Doctors diagnose thalassemias using blood tests, including a complete blood count (CBC) and special hemoglobin tests. A CBC measures the amount of hemoglobin and the different kinds of blood cells, such as red blood cells, in a sample of blood.
How do you test for hemoglobinopathies?
A hemoglobinopathy evaluation typically involves tests that determine the types and amounts of hemoglobin. Information from these tests, along with results from routine tests such as a complete blood count (CBC) and blood smear, aid in establishing a diagnosis.
What is thalassemia investigation?
If your doctor suspects your child has thalassemia, he or she can confirm a diagnosis with blood tests. Blood tests can reveal the number of red blood cells and abnormalities in size, shape or color. Blood tests can also be used for DNA analysis to look for mutated genes.
How can you tell the difference between iron deficiency and thalassemia?
Distinguishing Iron Deficiency Anemia From Thalassemia Trait The first difference is in the red blood cell count (labeled RBC). In iron deficiency, this value is low because the bone marrow is unable to manufacture red blood cells. In thalassemia trait, RBC is normal to elevated.
Why Hb electrophoresis test is done?
Hemoglobin electrophoresis measures hemoglobin levels and looks for abnormal types of hemoglobin. It’s most often used to help diagnose anemia, sickle cell disease, and other hemoglobin disorders.
What is alpha and beta thalassemias?
When thalassemia is called “alpha” or “beta,” this refers to the part of hemoglobin that isn’t being made. If either the alpha or beta part is not made, there aren’t enough building blocks to make normal amounts of hemoglobin. Low alpha is called alpha thalassemia. Low beta is called beta thalassemia.
What is the basic hemoglobin defect in the Thalassemias?
Patients with thalassemia do not produce enough hemoglobin (Hb) A (α2β2) because their cells cannot manufacture either the alpha or beta polypeptide chain of human hemoglobin. Alpha-thalassemia depresses only the production of the alpha chains, and beta-thalassemia depresses only the production of the beta chains.
What is a Basophilic erythrocyte?
Basophilic stippling, also known as punctate basophilia, is the presence of numerous basophilic granules that are dispersed through the cytoplasm of erythrocytes in a peripheral blood smear. They can be demonstrated to be RNA.
Why is serum iron high in thalassemia?
In Thalassaemia intermedia the increased gastro-intestinal absorption of iron, which is much higher than that in normal individuals is most likely due to a paradoxical suppression of hepcidin (13).
How can you tell the difference between iron deficiency anemia and thalassemia?
The two best measures or calculations from the CBC are the Red Blood Cell count alone (RBC) and the Mentzer Index (MCV/RBC). An RBC above 5 x 1012/l is often seen in thalassemia, while a count <5 is more typical of iron deficiency.
What is Haemoglobin HPLC test?
Hemoglobin (Hb) Electrophoresis by HPLC test measures and identifies different types of hemoglobin in the blood. A human body contains various types of hemoglobin in their blood. With age, the percentage of hemoglobin present in the body changes. Hemoglobin is the protein which is present inside the red blood cells.
What is the difference between hemoglobinopathies and thalassemias?
Although hemoglobinopathies and thalassemias are two genetically distinct disease groups, the clinical manifestations of both include anemia of variable severity and variable pathophysiology. The thalassemias are characterized by a reduction in the amount of the normal globin chain produced.
What is the difference between iron deficiency and thalassemia?
Distinguishing Features Between Iron Deficiency and Thalassemia The RBC count in thalassemia is either normal or on higher side of normal MCV usually less than 70 in The RDW is usually in the normal range
What are the components of CBC in the diagnosis of thalassemia?
Structural hemoglobinopathies may have an impact on the red cell indices, and red cell indices are critical to the diagnosis of thalassemias. The key components of the CBC include: Hb, red blood cell (RBC) number, mean corpuscular volume (MCV), and red cell distribution width (RDW).
What is thalassemia and how is it treated?
The decreased production of hemoglobin results in anemia in early age and frequent blood transfusions are required to keep up the hemoglobin levels. This activity outlines the evaluation and treatment of thalassemia and highlights the role of an interprofessional team in managing the patients with this condition.