An inherited blood disorder that causes the body to have decreased hemoglobin is called thalassemia. The chemical that helps red blood cells carry oxygen is called hemoglobin. People with thalassemia usually experience extreme tiredness (fatigue) and anemia (low red blood cell count).
Those who have a mild form of thalassemia may not need treatment. In severe cases, doctors may recommend regular blood transfusions, dietary changes, regular physical exercises, and other options to help overcome fatigue.
Symptoms
Generally, there are multiple types of thalassemia. The symptoms usually appear according to the type and severity of the condition. Check below some examples:
- Extreme tiredness (fatigue)
- Weakness
- Yellowish or pale skin
- Slow growth
- Abdominal swelling
- Dark urine
In some cases, thalassemia is present at birth, or it appears in the first 2 years of life. Some people may inherit only one abnormal hemoglobin gene. In such cases, they usually do not experience thalassemia symptoms.
If you experience extreme fatigue without obvious reasons, immediately contact your healthcare provider.
Causes
This health condition happens due to DNA mutations (changes) in the cells that produce hemoglobin (a substance that helps red blood cells carry oxygen to all the body’s organs and structures). These abnormal genes are usually inherited from biological parents.
Generally, hemoglobin is produced from certain chains called alpha and beta chains. These chains can be negatively affected by gene mutations. Therefore, the production of alpha or beta chains is decreased in people with this condition. As a result, people experience either alpha-thalassemia or beta-thalassemia.
The severity of the condition in people with alpha-thalassemia depends on the number of abnormal genes a person inherits from biological parents. However, in people with beta-thalassemia, the severity of the disorder depends on which part of the molecule is affected.
Alpha-Thalassemia
In normal circumstances, 4 genes are involved in producing the alpha hemoglobin chain, and normally, you get 2 from each biological parent. Check below what happens according to the number of mutated genes a person inherits:
- One changed gene – In such cases, people usually do not experience symptoms of this condition and they often are carriers of the abnormal gene.
- Two changed genes – People with two abnormal genes may experience mild thalassemia symptoms. This type of condition is usually called alpha-thalassemia trait.
- Three changed genes – Those who inherit 3 abnormal genes commonly experience moderate to severe symptoms.
In rare cases, people may inherit all four abnormal genes that often lead to stillbirth or babies die shortly after delivery. When babies survive, they need transfusion therapy for their whole lives. However, some babies can be treated for the condition despite inheriting 4 abnormal genes with transfusions and a stem cell transplant.
Beta-Thalassemia
In such cases, only 2 genes are involved in producing the beta-hemoglobin chain. Usually, you get one or both biological parents. Check below what happens when you get either one or both mutated genes:
- One changed gene – People with one mutated gene usually experience mild symptoms, and the disease is called thalassemia minor or beta-thalassemia.
- Two changes genes – Those who inherit both abnormal genes, usually experience moderate to severe symptoms. In such cases, this condition is called thalassemia major or Cooley anemia.
Commonly, babies born with both defective beta hemoglobin genes are healthy at birth. The first symptoms of the disease appear within the first 2 years of life. Other babies experience a mild form of the disease called thalassemia intermedia, despite having 2 mutated genes.
Risk Factors
Check some factors that may increase your risk of developing thalassemia:
- A family history of the disease – If both biological parents have abnormal genes that cause thalassemia, biological children are at higher risk of developing it.
- Certain ancestry – This blood disorder is mostly diagnosed in African Americans and people of Mediterranean and Southeast Asia descent.
What Are The Potential Complications of Thalassemia?
The complications of this condition occur according to the severity of the condition. Check below some complications that may occur in people with moderate thalassemia:
- Iron overload – People with this inherited blood disorder may get an increased amount of iron in the body. It usually occurs due to frequent blood transfusions. This complication may cause damage to the heart muscle, liver, endocrine system (including glands that make hormones), and others.
- Infections – Those who suffer from this condition are at increased risk of infections, especially if the spleen is removed.
However, people with a severe form of thalassemia may experience other complications as well. For example:
- Bone deformities – This inherited blood disorder may cause your bone marrow to expand, causing bones to widen. As a result, it may lead to abnormal bone structure (especially in the face and skull). People with this complication also have an increased risk of bone fractures.
- Enlarged spleen – This organ is responsible for filtering unwanted material (including damaged or old blood cells) and helps the body fight infections. In people with thalassemia, the spleen works harder than normally should. As a result, it leads to an enlarged spleen.
- Delayed growth – Babies with anemia may experience slowed growth and delayed puberty.
- Heart issues – People with severe thalassemia usually experience congestive heart failure and arrhythmia (irregular heart rhythms).
How to Prevent Thalassemia?
Generally, it is not possible to prevent this blood disorder. However, discuss it with your genetic counselor for more details, especially if you are planning to become pregnant. A type of assisted reproductive technology diagnosis that includes screening an embryo in early stages for abnormal genes, combined with in vitro fertilization. It may help you have a healthy child if you have thalassemia or carry the mutated gene that causes it.
During this procedure, doctors fertilize mature eggs with sperm in a dish in the laboratory. Thereafter, the embryos are tested for abnormal genes, and only those without them are implanted into the uterus.
Diagnosis
Usually, symptoms of thalassemia appear within the first 2 years of life. When physicians suspect this inherited blood disorder, they may perform some tests to confirm the disease and rule out other health conditions that cause similar symptoms.
In most cases, physicians perform blood tests to check for abnormal genes and the number of red blood cells. Check below some tests used during pregnancy (also called prenatal tests) to check for thalassemia:
- Chorionic villus sampling – This test is usually performed near the 11th week of pregnancy. It involves the removal of a small sample of the placenta for testing.
- Amniocentesis – Commonly, it is performed around the 16th week of pregnancy, and it involves tests on the amniotic fluid.
Treatment
While mild forms of thalassemia often do not need treatment, in moderate to severe cases, physicians recommend the following treatments. Check below some examples:
- Life-long blood transfusions – Those who survive after birth usually need blood transfusions for the rest of their lives. Commonly, they need a blood transfusion every few weeks. Unfortunately, multiple blood transfusions may lead to iron buildup in the blood vessels, which may cause damage to the liver, heart, and other body organs.
- Chelation therapy – This treatment is often recommended by doctors to remove extra iron from the blood. It involves oral medicines (such as Deferasirox or Deferiprone) or an injection that contains Deferoxamine.
- Stem cell transplant – This procedure is also known as a bone marrow transplant. Physicians usually recommend this treatment for people with severe thalassemia. In some cases, a stem cell transplant can cure thalassemia.
Home Remedies
Healthcare professionals may recommend the following tips to improve the treatment effectiveness. For example:
- Avoid increased iron levels in the blood – Discuss with your healthcare provider about ways to reduce iron in the blood. One way is to reduce foods, vitamins, or supplements that contain it in high amounts.
- Adopt a healthy diet – This can help you boost your energy and improve your quality of life. Along with dietary changes, physicians may recommend folic acid, calcium, and vitamin D supplements.
- Prevent infections – Regularly wash your hands and avoid sick people, especially if you have had surgery to remove the spleen. You should also get annual vaccines against meningitis, pneumonia, and hepatitis B.
Frequently Asked Questions
Does thalassemia impact life expectancy?
Generally, people with this condition have a normal life expectancy. In severe cases, people often die by 30 years of age due to iron overload, which causes significant heart damage.
How did I get thalassemia?
This is an inherited disorder that often happens when both biological parents have the condition or carry the abnormal gene that causes thalassemia. This inherited blood disorder is often diagnosed in African Americans, people of Mediterranean descent, and Southeast Asian descent.
Does thalassemia get worse with age?
Unfortunately, yes, this condition worsens over time in more severe forms, causing complications such as excessive iron levels in the blood, damage to different body organs (such as the heart), and others. Ask your healthcare provider if you have additional questions.
