I was diagnosed with thalassemia, but I don't know what it is

Dear Reader, 

Three cheers for your tenacious information-finding tendency here! Learning more about thalassemia in general may help you develop more of an understanding of how this condition may impact your body. Thalassemia is a series of related genetic (inherited from your family) disorders of the blood that decrease the body's ability to produce hemoglobin — a part of red blood cells that carries oxygen and other vital nutrients throughout the body. Without oxygen in the red blood cells being carried throughout the body, you may feel symptoms such as tiredness or shortness of breath. The symptoms of thalassemia and their severity depend in part on whether a person inherits the genes from one or both parents. Mild cases of thalassemia are typically treated for anemia symptoms (a condition involving fewer red blood cells that can cause fatigue), while more severe cases require intensive treatment such as blood transfusions to increase healthy red blood cells. For more information, keep reading and you may consider speaking with a hematologist or other health provider that specializes in blood disorders.  

There are two types of thalassemia disorders: alpha thalassemia and beta thalassemia. These are caused by missing or mutated protein chains that make up hemoglobin, which are inherited from your parents. Alpha thalassemia is common in people of Southeast Asian, Middle Eastern, Chinese, and African descent; beta thalassemia is more common in those of Mediterranean descent. Someone with alpha thalassemia (also known as Hemoglobin H or Hedrops fetalis with Hemoglobin Barts for severe cases) may lead to birth defects, while someone with beta thalassemia (or Cooley anemia) may develop more serious forms of anemia, growth failure, or osteoporosis (fragile bones). 

As for the severity of the condition, it can range from from minor to major. People who receive the gene from only one parent have minor thalassemia. These individuals are known as trait carriers. Minor thalassemia often goes undetected because it poses no significant health concerns. It sometimes causes a mild form of anemia that doesn’t respond to iron supplements, which is a common treatment for anemia. Some health providers may recommend vitamin B supplements or other folic acid treatments to help develop red blood cells if you have minor thalassemia.  

In contrast, people who receive a thalassemia gene from both parents have major thalassemia. Major thalassemia is most often treated by blood transfusions to keep hemoglobin levels high enough to transport oxygen. Regular blood transfusions come with their own set of risks, including iron overload, alloimmunization (when your immune system attacks the new blood cells thinking it’s an infection), or infections, such as hepatitis. If you undergo blood transfusions to treat thalassemia, you may also receive chelation therapy to remove excess iron buildup. Without treatment, major thalassemia may have serious health consequences, including: 

• Severe anemia 
• Growth problems, including fragile and enlarged bones, facial malformations, and delayed growth 
• Organ damage from iron deposits in the heart, liver, and pancreas 
• Spleen enlargement 
• Increased susceptibility to infection 

There are several tests that may indicate the presence of thalassemia as well as the type and severity of the disorder. In addition to looking for an enlarged spleen, your red blood cells may look smaller or abnormal when observed with a microscope. Other tests such as complete blood counts (CBCs) or hemoglobin electrophoresis may detect anemia. One test called mutational analysis can even diagnosis alpha thalassemia.  

There are several recommended treatments for managing thalassemia, regardless of the type. In addition to speaking regularly with a health care provider, it’s recommended that people living with thalassemia stay up to date on their vaccines, eat nutritiously rich meals, and are regularly physically active. Reaching back out to your health care provider may help determine what treatments are recommended for you. If you didn't feel comfortable with your current provider, seeking a second opinion may help you get the support you need. In addition to support from a health care provider, some organizations help patients find better access to support. For example, the Cooley's Anemia Foundation is working to help educate people with thalassemia and ensure better access to treatment. The organization has a patient's advocacy group, as well as a discussion forum for questions and support identifying specialists and other related care. Additionally, because this gene can be passed onto children, the March of Dimes Resource Center has additional information about genetic counseling, including how to find a site close to you. 

Hopefully this clears up some of your questions!