Symptoms of thalassemia

The beta-thalassemia mutation is a hereditary blood disorder that reduces the amount of hemoglobin in the blood. Hemoglobin is the protein that makes the blood red. It is rich in iron and helps carry oxygen throughout the body. People with beta-thalassemia are often anemic. • beta-thalassemia minor, which causes few or no symptoms • beta-thalassemia major, which causes serious symptoms and may require blood transfusions • beta-thalassemia intermedia, which causes symptoms between the above two extremes • dominant beta thalassemia The condition is a genetic disorder with an autosomal recessive pattern of inheritance. This means that a person needs to inherit two genes with the beta-thalassemia mutation to develop the disorder. However, those with just one copy may develop beta-thalassemia minor and often have mild or no symptoms. Read on to learn about the beta-thalassemia mutation, including the causes, symptoms, treatment options, and more. Share on Pinterest Andy Sacks/Getty Images Beta-thalassemia is a genetic disorder that occurs because of a HBB gene. When a person has two copies of this mutation, their body produces less hemoglobin. Hemoglobin is a protein that carries iron and oxygen throughout the body. Issues with hemoglobin reduce the availability of oxygen and iron, causing various medical symptoms. In children, beta-thalassemia may affect growth and development. Without treatment, it may cause organ damage, severe anemia, bleeding problems, and neurological iss...

Thalassemia trait means you carry the gene that causes the disease, but you don’t have the disease yourself. You likely won’t have symptoms or may have mild symptoms. Still, you can pass on the disease to your child. Thalassemia is an inherited blood disorder that causes you not to make enough hemoglobin, a protein in your blood. Hemoglobin allows your red blood cells to carry oxygen to other cells throughout your body. Without enough hemoglobin, your red blood cells die more quickly, and your organs and tissues don’t get enough oxygen. Thalassemia trait, aka thalassemia minor, usually doesn’t cause health issues. But you can still pass down the affected gene to future generations. There are two types of alpha-thalassemia trait. That’s because HBA1 and HBA2, are responsible for making hemoglobin alpha. You inherit two copies of each gene — one from each parent — so four in total. The result will depend on the number of affected genes. If the inherited mutation affects only one gene, you are a silent carrier for alpha-thalassemia. You can still pass on the affected gene, but you won’t experience any symptoms. If the mutation affects two genes, you have alpha-thalassemia minor. Your red blood cells are likely to be smaller than is typical. This may cause you to experience mild anemia. If the mutation affects three of your genes, you have a more severe case of alpha-thalassemia. Unlike its alpha counterpart, only one gene ( HBB) is responsible for making hemoglobin beta. You ...

Definition Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia. Alternative Names Mediterranean anemia; Cooley anemia; Beta thalassemia; Alpha thalassemia Causes Hemoglobin is made of two proteins: • Alpha globin • Beta globin Thalassemia occurs when there is a defect in a gene that helps control production of one of these proteins. There are two main types of thalassemia: • Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated). • Beta thalassemia occurs when similar gene defects affect production of the beta globin protein. Alpha thalassemias occur most often in people from Southeast Asia, the Middle East, China, and in those of African descent. Beta thalassemias occur most often in people of Mediterranean origin. To a lesser extent, Chinese, other Asians, and African Americans can be affected. There are many forms of thalassemia. Each type has many different subtypes. Both alpha and beta thalassemia include the following two forms: • Thalassemia major • Thalassemia minor You must inherit the gene defect from both parents to develop thalassemia major. Thalassemia minor occurs if you receive the faulty gene from only one parent. People with this form of the ...