What’s the Deal with Thalassemia?

Editor’s Note: Another informative post from guest contributor, Lisa Buben — this time with a personal touch. Lisa includes an experiential story with her post. Read more from Lisa at Inspire to Thrive and at Fancy Scrubs.

Inherited blood disorder, thalassemia, causes mild to severe anemia.

When I was a teenager I used to get dizzy spells and the doctors claimed I had iron poor blood, so they gave me big iron pills to take. This went on for several years until my sister, during her pregnancy, discovered something. She called us from Canada to tell us she had inherited the thalassemia trait.

So my mom and I took off for the doctor’s office. There, I discovered that we too had the thalassemia trait.  I hadn’t thought about it much afterward, until recently, when I tried to donate blood. I have attempted to donate blood several times throughout the years and discovered my blood hemoglobin levels were too low to qualify as a donor. I said, “Oh, it’s just thalassemia.” But they still would not allow me to donate blood.

I had a regular doctor visit already scheduled, so I asked about it and, sure enough, the lab test verified that I still had iron poor blood and must continue taking iron supplements.

But it got me thinking –

How many people out there have thalassemia and don’t know it?  

According to the Centers for Disease Control (CDC), thalassemias are a group of genetic blood disorders that affect approximately 1,000 individuals in the United States.  Experts estimate that 60 to 80 million people worldwide carry the beta thalassemia trait itself.

Risk factors for thalassemia include:   Asian, Chinese, Mediterranean, or African American ethnicity and family history of the disorder.  My mom’s family came from Italy, a Mediterranean region, which explains the source of the gene in our family. But how many people can trace their genealogy back far enough to know?

And just what is Thalassemia?

To understand thalassemia, you must first understand hemoglobin and its role in the blood. Four protein molecules, called globulin chains, make up one hemoglobin molecule – the molecule in red blood cells responsible for binding to oxygen and carrying it from the lungs to the rest of the body. Each globulin chain contains a heme molecule containing iron. The iron binds to oxygen (O2) and carbon dioxide (CO2) for transporting through the blood stream. People who do not take in enough iron through iron-rich foods, or supplements, can become anemic, which means they have iron poor blood. People with anemia, not caused by thalassemia, don’t get enough oxygen to their tissues because they lack the adequate hemoglobin needed to transport oxygen throughout the body.

Thalassemia is a blood disorder, which causes the body to produce an abnormal, or defective, form of hemoglobin. The disorder results in excessive destruction of red blood cells, which leads to anemia. The defective gene that causes the disorder gets passed down by parents throughout generations.

The two primary types of thalassemia are alpha-thalassemia and beta-thalassemia. Each of these has several sub-types and both the alpha and beta types occur in the categories known as, thalassemia major and thalassemia minor.

Charactierstics of Thalassemias, Major and Minor 

Thalassemia Major

Thalassemia major, the most severe form, occurs when a person inherits the disorder from both parents. People with thalassemia major develop severe anemia soon after birth and continue to exhibit symptoms, which may include:

* Facial bone deformations

*Fatigue, due to severe anemia

*Growth delay or growth retardation

*Shortness of breath

*Jaundice (yellowing of the skin)

Thalassemia major can result in heart failure and death at a young age, primarily in adults aged 20 to 30 years. Physicians treat thalassemia major with frequent blood transfusions. The transfused blood contains normal amounts of iron, so patients must not take iron supplements while receiving this treatment. Iron can build up in the body to dangerously high levels, wreaking havoc on organ systems. When a patient receives a considerable number of blood transfusions over a relatively short period, he or she must undergo chelation therapy to remove exess iron buildup. Patients should, however, take folate supplements as directed by their physicians.

Untreated, thalassemia major leads to heart failure and liver problems, and makes patients more likely to develop infections.

Thalassemia Minor

Thalassemia minor, a far less severe form of the disorder, occurs when a person inherits the trait from only one parent.  It is characterized by small red blood cells, but causes no outward symptoms, only minor anemia. People with thalassemia minor carry the genetic trait, and may pass it on to their children, but do not develop the visible symptoms associated with the major form.

Less severe types of thalassemia usually do not affect life span.

Graphic from:  http://www.wellness.com/reference/conditions/thalassemia/

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  1. #1 by Ronald Hampton on October 17, 2011 - 11:12 PM

    A screening policy was implemented in the 70’s in Cyprus to reduce the incidence of Thalassemia that has reduced the number of children born with the hereditary blood disease from 1 out of every 158 births to almost zero. Something we may want to think about here in the states.

    I would also like to add another characteristic is enlargement of the spleen. Thalassemia is accompanied by the destruction of red blood cells, and the task of removing these cells causes the spleen to enlarge making anemia worse and reduce the life of transfused blood that patient depend upon.

    Has your doctor determined if you have Alpha, Beta, or Delta classification?

  2. #2 by Lisa (@Lisapatb) on October 19, 2011 - 12:41 AM

    We’ve been told it’s the trait of Thalassemia – no other classification given. Interesting on the screening process. Will have to check that out here. Thanks!