What is thalassemia syndrome?
Overview. Thalassemia (thal-uh-SEE-me-uh) is an inherited blood disorder that causes your body to have less hemoglobin than normal. Hemoglobin enables red blood cells to carry oxygen. Thalassemia can cause anemia, leaving you fatigued.
What is thalassemia and its types?
There are 2 main types of thalassemia: alpha and beta. Different genes are affected for each type. Thalassemia can cause mild or severe anemia. Anemia occurs when your body does not have enough red blood cells or hemoglobin. The severity and type of anemia depends on how many genes are affected.
What are the three types of thalassemia?
When you have beta thalassemia, your body doesn’t make enough protein in red blood cells called hemoglobin. That makes it hard for oxygen to get to all of your body’s cells. There are three main types of the disease: beta thalassemia major, intermedia, and minor.
What is thalassemia PDF?
Thalassemia is a genetic blood disorder. Public suffering from this disease is not able to make sufficient hemoglobin in the body, which leads to severe anemia. In people with alpha thalassemia, the hemoglobin does not produce sufficient alpha protein.
What is the pathophysiology of thalassemia?
Thalassemia is a blood disorder that is caused by DNA mutations in cells that are responsible for producing hemoglobin. This leads to a reduction in the number and ability of the red blood cells to carry oxygen throughout the body and can cause sufferers to feel symptoms such as fatigue.
What is thalassemia Slideshare?
THALASSEMIA • Thalassemia is an inherited blood disorder in which the body produces an abnormal form of hemoglobin which results in excessive destruction of red blood cells and further leads to anemia.
What mutation causes thalassemia?
Thalassemia is an inherited autosomal recessive disease resulting from mutations in the α- and β-globin gene clusters on chromosome 16 and chromosome 11, respectively. It is characterized by the absence or reduced synthesis of globin chains of hemoglobin and includes two main types, α- and β- thalassemia (1, 2).
What are the clinical manifestations of beta thalassemia?
Common symptoms include pallor, jaundice, leg ulcers, gallstones (cholelithiasis), and abnormal enlargement of the liver and spleen. Moderate to severe skeletal malformations (as described in beta thalassemia major) may also occur.
What is thalassemia test?
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.