Skip to main content

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.

Labels

Labels:

Comments

Post a Comment

Popular posts from this blog

Can Thalassemias Be Prevented?

Thalassemias can't be prevented because they're inherited (passed on from parents to children). However, these bleeding disorders can be found before birth through prenatal tests. Family genetic studies may help find out whether people have missing or altered hemoglobin genes that cause thalassemias. (For more information, see "How Are Thalassemias Diagnosed?") If you know of family members who have thalassemias and you're thinking of having children, consider talking with your doctor and/or a genetic counselor. They can help determine your risk for passing on the disorder to your child.
Post a Comment
Read more

What do we know about heredity and thalassemia

Thalassemia is a group of inherited or genetic diseases that affect the body's ability to produce hemoglobin, usually resulting in anemia. Hemoglobin, a protein found in red blood cells, is necessary for carrying oxygen throughout the body. Thalassemia is passed to children by parents who carry the gene for the disease. There are many different types of thalassemia, ranging from mild to life-threatening or fatal without blood transfusions and appropriate treatment. Thalassemia trait, also known as Mediterranean anemia, is one of the most common genetic disorders. Rarely resulting in illness, it affects hundreds of millions of people around the world. Each year about 100,000 babies are born with severe forms of thalassemia. The disease occurs most often in people of Italian, Greek, Middle Eastern, South and Southeast Asian, and African ancestry. The type and severity of the illness is determined by the specific genetic abnormality present. Today, better understanding of the ca...
Post a Comment
Read more

Innovations and Research

As one of five thalassemia centers in the United States designated by the National Institutes of Health, the Children's Hospital Boston thalassemia program provides patients with access to experts in the field and the most cutting-edge clinical trials available in the world. One promising recent study, now awaiting approval by the FDA, tested the effectiveness of a new oral iron chelator, deferisirox. Researchers from Children's Hospital Boston have been at the forefront of thalassemia research and treatment for decades. Important advances in the field that were made here include: • Recognition of the important role of hypertransfusion by Dr. David Nathan, Senior Associate in Hematology, in the 1960s. • Demonstration of effective iron chelation by subcutaneous pump deferoxamine (Desferal ®) by Dr. Richard Proper and David Nathan in the 1970s. • Elucidation of the molecular biology of thalassemia syndromes by Drs. Nathan, YW Kan, Stuart Orkin and others.
Post a Comment
Read more