Learn about thalassemia minor, anemia, thalassemia major, and iron deficiency
“Help! I’m an adult who has just been diagnosed with thalassemia and I want to know more about it. What should I do?”
The good news is, being diagnosed with thalassemia (pronounced: tha-la-see-me-ah) as an adult means you do not have the most severe form of the illness called thalassemia major.
The bad news is, you do have a genetic disorder that most medical experts consider irrelevant, even though it does cause symptoms of fatigue, lethargy, and brain fog.
What is Thalassemia Minor?
Thalassemia minor is a recessive genetic disorder that is passed down from parent to child.
A recessive genetic trait has a lower percent chance of being passed down from parent to child than a dominant genetic trait. For example, most people write with their right hand. Right-handedness is a dominant genetic trait, where left-handedness is a recessive trait.
A person who carries the recessive genetic mutation for thalassemia is considered to have “thalassemia minor,” which is also sometimes referred to as “a silent carrier,” “thalassemia trait,” or “heterozygous beta-thalassemia.” All of these terms are used interchangeably, because they mean the same thing.(1)
If both parents have thalassemia minor, they have a one-in-four chance of having a child that has thalassemia major, two-in-four chance of having a child with thalassemia minor, and one-in-four chance of having a child that does not carry thalassemia at all.
A parent with thalassemia minor has a one-in-four chance of passing down the thalassemia trait to their child, even when the child’s other parent is a non-carrier. Prospective parents in this same scenario also have a three-in-four chance that their child will not carry the thalassemia trait at all.
People with thalassemia minor are healthy for the most part, but many do experience inefficient energy and fatigue throughout the day. The reason for this is because thalassemia minor causes stem cells in the bone marrow to develop into both healthy red blood cells (that carry oxygen well throughout the body) and unhealthy, misshapen red blood cells (that do not carry oxygen throughout the body).
Women tend to discover that they have thalassemia trait when they become pregnant with their first child or when their doctor classifies them as anemic. The hemoglobin level of some pregnant women with thalassemia minor can become so low that an unexpected blood transfusion becomes necessary.
Men are much less prone to discover that they have thalassemia, primarily because they get their health checked less often than women.
Are people with thalassemia minor anemic?
Yes, studies show that thalassemia carriers do experience lower hemoglobin levels, which is the definition of anemia. They also display symptoms of lethargy, fatigue, and dizziness, which are also experienced by people with general anemia. As if that isn’t enough, people with thalassemia minor have been shown to have significantly more fevers requiring medical attention. (2)
Anemia is a non-genetic diagnosis given when a person’s blood test shows a lower than normal count of healthy red blood cells. As a simple example, let’s say a drop of blood is supposed to contain 100 healthy red blood cells. When a person has anemia, their lab test will show 80 healthy red blood cells instead of 100. Nutritional deficiency, blood loss and/or destruction, and cancer (which causes red blood cell loss and/or destruction) are the most common causes of anemia.
People with thalassemia, on the other hand, have irregularly shaped red blood cells that don’t function properly. So, again, using the simplistic example above, if a sample drop of blood is supposed to contain 100 healthy red blood cells, a person with thalassemia minor will have 80 healthy red blood cells and 20 tiny, misshapen cells that can’t perform their job as oxygen transporters.
Since red blood cell destruction is one cause of anemia, the 20 thalassemic red blood cells in our example are considered destroyed or broken. This is why a diagnosis of hemoglobin deficiency or anemia is given. Genetic mutation is the only cause of thalassemia.
Should a person with thalassemia minor take iron supplements?
No. Doctors frequently think that anemia, caused by thalassemia, can be improved with iron supplementation. This is incorrect thinking. Many doctors receive very little training on thalassemia, even though it is one of the most common genetic mutations in the world. That belief that all anemias can be cured with extra iron is why many people with thalassemia minor are often mistakenly placed on iron supplementation.
Iron is an essential nutrient that helps the body produce hemoglobin (i.e., red blood cells). If a person takes iron supplementation when their body is not deficient in iron they’re adding a toxic heavy metal to their body. Iron will not remove symptoms of fatigue, lethargy, or dizziness. Instead, it will bring on additional symptoms like pain, irregular heartbeat, headache, and/or skin rash.
Remember, consuming too much iron is bad because there’s no way for your body to remove it. Since iron can’t be removed after it has been ingested, your body will hold onto it in your liver, heart, and other cells (with the hope of utilizing it in the future to create red blood cells).
The smartest thing to do before taking an iron supplement or wolf down extra servings of prime rib is to ask your doctor to test your blood for iron deficiency.
How Do I Know If I’m Iron Deficient?
Thalassemia minor should not be confused with iron deficiency anemia, a condition that also causes shortness of breath, fatigue, and chest pain.
A full iron panel of blood tests should be requested before beginning iron supplementation. In fact, there are several important tests that can help you learn more about your iron status, as well as the quantity and quality of your bone marrow’s blood cell production.
These simple blood tests include:
Complete blood cell count (CBC) to determine if your body produces a normal amount of red blood cells. Remember, each red blood cell contains four iron molecules.
Iron blood test to measure the iron level in your body.
Ferritin, a protein that helps your body store iron, is measured to see how much stored iron is being used.
Reticulocyte count to determine how many young blood cells you’re producing.
Peripheral smear to determine the quality of the red blood cells you’re producing. Blood cells disorders create disfigured-looking red blood cells.
Do People With Thal Minor Need Iron Supplements?
No, as stated above, not all people with thalassemia minor require iron supplementation. Only those considered to be iron deficient should increase their iron intake.
Remember, iron is a heavy metal that can become toxic at high levels. Iron toxicity can lead to organ and nerve damage in the body.
How Do I Test For Thalassemia?
If you have been told you have anemia but are curious to know if you have thalassemia minor, ask your doctor for genetic testing and a “hemoglobin electrophoresis” (pronounced: ee-lek-tro-fo-ree-sis) blood test.
The hemoglobin electrophoresis blood test is also known as a complete hemoglobin evaluation and will measure the different types of hemoglobin proteins found in your red blood cells. (3)
What Are Hemoglobin Proteins?
The gene that produces beta thalassemia is contained within the HBB (Hemoglobin Subunit Beta) gene. There are nearly 300 possible mutations in the HBB gene, all of which have been found to cause some version of beta thalassemia of differing severities. (4)
Red blood cells, also called erythrocytes, are comprised of a protein called hemoglobin. Hemoglobin gives blood its red color and can be broken into four heme groups (i.e., sub-proteins) called Alpha 1, Beta 1, Alpha 2, Beta 2. (4)
“Each red blood cell can contain between 240 and 300 million molecules of hemoglobin. The severity of the disease depends on the mutations involved in the genes, and their interplay.” — World Health Organization
If a person is born with a genetic defect that affects the creation of their alpha protein (i.e., heme), they are told they have alpha thalassemia.
If a person is born with a genetic defect that affects the creation of their beta protein (i.e., heme), they are told they have beta thalassemia.
To complicate matters even more, there are other heme proteins that could be defective, which is why there are even more genetic diseases like delta beta thalassemia, sickle thalassemia, among others.
Each of the four sub-proteins within a red blood cell contains one iron molecule that can bind to and transport one molecule of oxygen. If a person has thalassemia minor, some red blood cells are misshapen and unable to carry oxygen to all of the cells in the body. Meaning, for each “broken” red blood cell, there is a loss of oxygen molecules that can’t travel to other cells in the body. This is why symptoms of fatigue, brain fog, and dizziness occur.
How does thalassemia major happen?
When a person’s genetic defect causes them to produce absolutely no beta protein, this is known as Beta-0 (B0). When some beta protein is produced, this is called Beta-plus (B+). (4)
People with transfusion dependent thalassemia (i.e., thalassemia major or intermedia) have different transfusion requirements based on the way their genes produce hemoglobin proteins.
In other words, the amount of hemoglobin proteins produced in a person’s body is directly related to how severe their thalassemia diagnosis is. This is where the diagnosis of alpha or beta thalassemia, minor, intermedia, or major comes from.
When a person is diagnosed with severe thalassemia, or Beta-0, they require frequent, chronic transfusions of hemoglobin (i.e., from red blood cells) to remain alive.
This is why I hate when patients compare their medical requirements with other similarly diagnosed patients. How could there be a one-size-fits-all transfusion requirement for all transfusion dependent patients when there are approximately 300 beta mutations?
Do People with Thal Minor Have High Platelets?
Yes, sometimes. If a person’s bone marrow is producing red blood cells that are low in quality and quantity, the body will produce extra platelets.
This condition of producing extra platelets is called thrombocytosis. A person whose blood test displays a high platelet level should also check to see if s/he has low iron levels.
I hope this information helped you learn a bit more about thalassemia and answered some of your most basic questions. Genetics and physiology are extremely complex topics that I try to break down in very simple terms. My goal is to make complicated topics accessible and easier to consume.
If you have any other questions on this topic, please feel free to reach out to me on my Ask Jo page. I’d be happy to answer more questions about this or other related topics in future blog posts.
To your good health,