Skip to main content

Beta Thalassemias

Two genes (one from each parent) are needed to make enough beta globin protein chains. If one or both of these genes are altered, you will have beta thalassemia. This means that you don't make enough beta globin protein.

If you have one altered gene, you're a carrier. This condition is called beta thalassemia trait or beta thalassemia minor. It causes mild anemia.

If both genes are altered, you will have beta thalassemia intermedia or beta thalassemia major (also called Cooley's anemia). The intermedia form of the disorder causes moderate anemia. The major form causes severe anemia.

Labels:

Comments

Post a Comment

Popular posts from this blog

Thalassemia Minor: Understanding the Silent Carrier

Introduction: Thalassemia is a genetic blood disorder characterized by abnormal hemoglobin production, leading to anemia. Thalassemia minor, also known as thalassemia trait or carrier state, is the mildest form of thalassemia. Individuals with thalassemia minor typically have one normal hemoglobin gene and one mutated hemoglobin gene. Although it is considered a mild condition, understanding thalassemia minor is crucial due to its implications for genetic counseling and potential complications during pregnancy. Genetic Basis and Inheritance: Thalassemia minor is inherited in an autosomal recessive manner, meaning that both parents must carry the gene mutation for their child to have thalassemia minor. The mutated genes affect the production of either the alpha or beta globin chains that make up hemoglobin, the protein responsible for carrying oxygen in the blood. The severity of thalassemia is influenced by the specific gene mutation and the extent to which the normal gene is affected.
Post a Comment
Read more

Diagnosis

Thalassemia can be diagnosed in different ways. Some types can be found on routine blood tests that show that the red blood cells are small or the patient is anemic. Testing of parents can be done before pregnancy to determine whether there is a risk of having a child with a severe form of thalassemia. The illness can be seen in sophisticated genetic testing, and can be found prenatally through amniocentesis or chorionic villus sampling (CVS).
Post a Comment
Read more

Alpha Thalassemias

Four genes (two from each parent) are needed to make enough alpha globin protein chains. If one or more of the genes is missing, you will have alpha thalassemia trait or disease. This means that you don't make enough alpha globin protein. * If you have only one missing gene, you're a silent carrier and won't have any signs of illness. * If you have two missing genes, you have alpha thalassemia trait (also called alpha thalassemia minor). You may have mild anemia. * If you have three missing genes, you likely will have hemoglobin H disease (which a blood test can detect). This form of thalassemia causes moderate to severe anemia. Very rarely, a baby will have all four genes missing. This condition is called alpha thalassemia major or hydrops fetalis. Babies with hydrops fetalis usually die before or shortly after birth.
Post a Comment
Read more