Signs and Symptoms of Thalassemia and the Importance of Thalassemia Tests
Have you noticed that you’ve been feeling weak recently? Maybe you’ve noticed that your skin has become yellowish or pale. Or maybe you have a baby who seems to be exhibiting strange symptoms such as slow growth or facial bone deformities.
These are worrying symptoms to have, especially if you don’t know what’s causing them. If you’ve been doing research online, you might start to wonder if the cause is thalassemia.
If this is your worry, you might feel anxious. But fortunately, with thalassemia tests, you can find out if you have it. And if you do, you can get the treatment you need.
In this article, we’ll review everything you need to know about thalassemia, thalassemia testing, and treatment options to be healthy.
What Is Thalassemia?
Thalassemia is a blood disorder that is inherited from family members, which causes your body to have a lower amount of hemoglobin than what is normal. Hemoglobin is necessary for your red blood cells to be able to carry oxygen through your body.
As a result, when you have this condition, you might end up having moderate or severe anemia.
If it’s a mild version of thalassemia, you might not need to receive treatment. However, if it’s more serious, you might need regular blood transfusions.
As for the fatigue issues of the disorder, you can exercise regularly and have a healthy diet designed for someone with iron deficiency anemia.
Risk Factors for Thalassemia
One of the risk factors for thalassemia is a family history of it, as thalassemia carriers are capable of passing the disorder to their children through the hemoglobin genes, which are mutated. Another risk factor is to be of a specific ancestry.
Thalassemia is most common in people of Southeast Asian and Mediterranean descent, as well as African Americans. If you’re in any of these groups, you’re at more risk for having Thalassemia.
Causes of Thalassemia
The cause of thalassemia is a mutation within the DNA of the cells that make hemoglobin, the substance within your red blood cells that makes it possible for them to carry oxygen within your body. This mutation is passed on from parents to their children.
When this type of hemoglobin mutation occurs, it either reduces the alpha chains or the beta chains in the DNA.
As a result, there are two forms of thalassemia. One is called alpha-thalassemia, while the other is beta-thalassemia.
Alpha-thalassemia’s severity depends on how many genetic mutations you’ve inherited from your parents. If you have one mutated gene, you won’t have any symptoms. If you have two, your thalassemia will be mild.
However, if you have three, the symptoms and signs you experience will be moderate to severe.
If four mutated genes are inherited, stillbirth is usually the result, or the baby will die soon after birth. Sometimes, treatment is possible with a stem cell transplant and blood transfusions.
As for beta-thalassemia, its severity depends on which specific area of the hemoglobin molecule is mutated.
With this type of thalassemia, if you receive only one mutated beta-thalassemia trait, you’ll only have mild symptoms.
However, if you receive two genes that are mutated, you’ll have moderate to severe symptoms. This is called thalassemia major.
If a baby is born with thalassemia major, it usually becomes noticeable in the first two years after they’ve been born.
Potential complications of severe or moderate thalassemia, as well as thalassemia anywhere in between these two, include iron overload, infection, bone deformity, enlarged spleen, slow growth rates, and heart problems.
Signs and Symptoms of Thalassemia
Symptoms of thalassemia can include weakness, fatigue, yellowish or pale skin, slow growth, facial bone deformities, dark urine, and abdominal swelling. Sometimes, anemia occurs. Note that thalassemia is not the same as sickle cell.
Lab Tests for Thalassemia
Tests for thalassemia include DNA testing, complete blood count (CBC), blood smear, iron studies, and prenatal tests. In this thalassemia test guide, we’ll review the benefits of these thalassemia tests and what they are so you can decide which one is right for you.
When you get the DNA test for thalassemia, you’ll find out whether you have the gene that causes thalassemia. This can help you determine whether you want to get any treatments for this condition. If you’re planning a family, this can also help you make decisions.
Complete Blood Count (CBC) Test
This form of diagnosis is an evaluation of cells in the blood. Aside from other things, Complete Blood Count (CBC) determines the number of red blood cells and how much hemoglobin is in them. This diagnosis is used to evaluate the shape and size of the red blood cells available and reported as red cell indices. Diagnosis will include MCV (mean corpuscular volume) and a measurement of the red blood cells. The first indication of thalassemia is a low MCV. Howe? Well, if the iron deficiency has been ruled out, but still the MCV is low, then a physician will consider thalassemia next.
Blood Smear (similarly known as a peripheral smear and manual differential)
With this laboratory test, the expert will examine a thin layer of blood that has been treated with a special stain under a microscope. From there, the professional will consider the number and types of platelets, red blood cells, and white blood cells to see if they are normal and mature. It is important to note that in a person with thalassemia, the red blood cells will appear smaller than usual. It is also important to remember that red cells may also:
- anisocytosis and poikilocytosis (vary in size and shape)
- hypochromic (appear paler than normal)
- have uneven hemoglobin distribution (producing cells that look like a bull’s eye)
- be nucleated (cells being normal, matured but do not have a nucleus)
The higher the percentage the cells are found to be abnormal, the higher the chances of a person having the disorder and, therefore, cells losing their ability to circulate oxygen.
Iron Testing is a form of diagnosis or test may include ferritin, iron, UIBC (unsaturated iron-binding capacity), percentage saturation of transferrin, and TIBC (total iron-binding capacity). This diagnosis measures the ability of the body to store and use iron. This test is important because it helps determine if iron deficiency is the root cause of anemia. With this test, one or more tests may be conducted simply to monitor the degree of iron overload in a person with thalassemia.
Often, iron deficiency anemia is confused with alpha thalassemia because both have similar cell characteristics. However, it is wise to note that iron levels are not expected to be low when someone has been diagnosed with thalassemia. As such, the person with alpha thalassemia will
Hemoglobin Electrophoresis (Hemoglobinopathy (Hb) Evaluation) Tests
This test aims to evaluate the kind and the relative number of hemoglobin is present in the red blood cells. Hb A (Hemoglobin A) contains both beta and alpha-globin, and it is a type of hemoglobin, which usually makes up about 97% of the hemoglobin in adults. Hemoglobin F usually makes up less than 2%, while Hb A2 (hemoglobin A2) usually takes up about 3% of hemoglobin in adults.
People with beta-thalassemia major often have more significant percentages of Hgb F. That is because beta-thalassemia significantly affects the balance of alpha and beta hemoglobin chain formation. It causes an increase in minor hemoglobin components. Also, remember that a person with beta-thalassemia minor often has a high number of Hgb A2. Hb S is dominant in persons with sickle cell disease.
Finally, there are prenatal tests. These can help you determine whether your baby has sickle cell anemia or thalassemia. As a result, you can make important decisions affecting your baby’s health and your plans for you and your family.
Frequently Asked Questions About Thalassemia and Lab Testing for Thalassemia
This section will review the most frequently asked questions that come up regarding thalassemia. By reviewing them, you’ll be able to find out more about how it may affect your or your child’s health and make a decision about which tests you want to take.
What Are the Symptoms of Thalassemia Major in Children?
The symptoms of thalassemia major in children include failure to thrive, chronic fatigue, and not growing at a normal rate. You can usually notice these symptoms during the first year of your child’s life.
Note that this can lead to the complication of bone deformities and death if this condition is prolonged. Regular blood transfusions are needed to treat severe anemia.
What Is My Chance of Passing Thalassemia on to My Children?
If you have thalassemia minor, you have a one in four (25%) chance of passing it on to your children. If your partner has thalassemia minor, this risk goes up, and it is likely your child could end up with thalassemia major.
For this reason, both of you need to get tested if you plan on having children.
What Is the Treatment for Thalassemia?
If thalassemia is severe, the treatment is regular blood transfusions. Unfortunately, one of the side effects of blood transfusions is a fatal iron accumulation in the liver and heart. However, things are now changing.
With the use of iron chelators, drugs designed to remove excess iron from your body, this can become a condition that is easier to live with.
While new treatments are being created, there currently isn’t a cure for thalassemia. However, by getting the test you or your baby needs, you can identify the presence of thalassemia and use the treatments needed.
Benefits of Thalassemia Lab Testing With Ulta Lab Tests
Several benefits come from doing your thalassemia lab testing with Ulta Lab Tests. Ulta Lab Tests offers tests that are highly accurate and reliable, so you can make informed decisions about your health.
Additionally, you get secure and confidential results, no insurance or referral is needed, you get affordable pricing, including the doctor’s order and a 100% satisfaction guarantee.
Need More Information?
Now that you know about the signs and symptoms of thalassemia and the importance of thalassemia tests, you might want additional information. Maybe you want to learn about which test will be best for you, your partner, or your baby.
Order your Thalassemia lab test today, and your results will be provided to you securely and confidentially online in 24 to 48 hours for most tests.
Take charge of your health and track your progress with Ulta Lab Tests.