Both thalassemia major and thalassemia intermedia can cause more than just anemia. The complications associated with thalassemia are partially determined by the severity of your particular type of thalassemia and the treatment you require. Because thalassemia is a blood disorder, any organ can be affected. Receiving regular medical care is key to screening for these complications and initiating early treatment.
Skeletal Changes
Red blood cell (RBC) production occurs primarily in the bone marrow. In the case of thalassemia, this RBC production is ineffective. One way the body attempts to improve production is by expanding the available space in the bone marrow. This most notably occurs in the bones of the skull and face. People can develop what is called “thalassemic facies”—chipmunk-like cheeks and a prominent forehead. Early initiation of chronic transfusion therapy can prevent this from occurring.
Osteopenia (weak bones) and osteoporosis (thin and brittle bones) can occur in adolescents and young adults. It is not understood why these changes occur in thalassemia. The osteoporosis may be severe enough to cause fractures, particularly vertebral fractures.
Splenomegaly
The spleen is capable of producing red blood cells (RBC); it generally loses this function around the fifth month of pregnancy. In thalassemia, the ineffective RBC production in the bone marrow can trigger the spleen to resume production. In an attempt to do this, the spleen grows in size (splenomegaly).
This RBC production is not effective and does not improve anemia. Early initiation of transfusion therapy can prevent this. If the splenomegaly causes an increase in transfusion volume and/or frequency, splenectomy (surgical removal of the spleen) may be required.
Gallstones
Thalassemia is a hemolytic anemia, meaning the red blood cells are destroyed more rapidly than they can be produced. Destruction of the red blood cells releases bilirubin, a pigment, from the red blood cells. This excessive bilirubin may result in the development of multiple gallstones.
In fact, more than half of people with beta thalassemia major will have gallstones by age 15. If the gallstones cause significant pain or inflammation, gallbladder removal (cholecystectomy) may be required.
Iron Overload
People with thalassemia are at risk for developing iron overload, also called hemochromatosis. Excessive iron comes from two sources: repeated red blood cell transfusions and/or increased absorption of iron from foods.
Iron overload can cause significant medical problems in the heart, liver, and pancreas. Medications called iron chelators can be used to remove iron from the body.
Aplastic Crisis
People with thalassemia (as well as other hemolytic anemias) require a high rate of new red blood cell production. Parvovirus B19 is a virus that causes a classic illness in children called Fifth Disease.
Parvovirus infects the stem cells in the bone marrow, preventing RBC production for 7 to 10 days. This decrease in RBC production in a person with thalassemia leads to the development of severe anemia and usually the need for RBC transfusion.
Endocrine Problems
The excessive iron overload in thalassemia can result in iron being deposited in the endocrine organs, such as the pancreas, thyroid, and sex organs. Iron in the pancreas can result in the development of diabetes mellitus. Iron in the thyroid can cause hypothyroidism (low thyroid hormone levels), which may result in fatigue, weight gain, cold intolerance (feeling cold when others do not), and coarse hair. Iron in the sex organs may lead to symptoms that include decreased libido and impotence in men and lack of menstrual cycles in women.
Heart and Lung Issues
Heart issues are not uncommon in people with beta thalassemia major. Enlargement of the heart occurs early in life due to anemia. With less blood, the heart needs to pump harder, causing enlargement. Transfusion therapy can help prevent this from occurring. Long-term iron overload in the heart muscle is a major complication. Iron in the heart can cause an irregular heartbeat (arrhythmia) and heart failure. Starting iron chelation therapy early is crucial to preventing these life-threatening complications.
Although the reasons why are not completely understood, people with thalassemia appear to be at risk for developing pulmonary hypertension, or high blood pressure in the lungs. When blood pressure is elevated in the lungs, it makes it more difficult for the heart to pump blood into the lungs, which can lead to heart complications. Symptoms can be subtle, and screening tests are crucial so that treatment can be started early.
There are 2 main types of thalassemia: alpha and beta. Different genes are affected for each type.
Alpha thalassemia occurs when some or all of the 4 genes that make hemoglobin (the alpha-globin genes) are missing or damaged.
There are 4 types of alpha thalassemia:
Alpha thalassemia silent carrier. One gene is missing or damaged, and the other 3 are normal. Blood tests are usually normal. Your red blood cells may be smaller than normal. Being a silent carrier means you don’t have signs of the disease, but you can pass the damaged gene on to your child. This is confirmed by DNA tests.
Alpha thalassemia carrier. Two genes are missing. You may have mild anemia.
Hemoglobin H disease. Three genes are missing. This leaves just 1 working gene. You may have moderate to severe anemia. Symptoms can worsen with fever. They can also get worse if you are exposed to certain medicines, chemicals, or infectious agents. Blood transfusions are often needed. You have a greater risk of having a child with alpha thalassemia major.
Alpha thalassemia major. All 4 genes are missing. This causes severe anemia. In most cases, a baby with this condition will die before birth.
Beta thalassemia is caused by damaged or missing genes. Two specific genes are involved. There are several types of this disorder:
- Beta thalassemia major (Cooley’s anemia). There are two damaged genes. This is the most severe form of this disorder. People with this condition will need frequent blood transfusions. They may not live a normal lifespan.
- Beta thalassemia minor or thalassemia trait. Only one gene is damaged. This causes less severe anemia. People with this type have a 50% chance of passing the gene to their children. If the other parent is not affected, their children will also have this form of the disorder. This type is further divided into:
Many people with this disorder are given iron replacement by mistake. This happens when a lack of iron is believed to cause their anemia. Too much iron can be harmful. So it is important to get the right diagnosis. You may need to see a blood disorder specialist, called a hematologist.
Hemoglobin consists of four protein chains, two alpha globin chains and two beta globin chains. Each chain — both alpha and beta — contains genetic information, or genes, passed down from your parents. Think of these genes as the “code” or programming that controls each chain and (as a result) your hemoglobin. If any of these genes are defective or missing, you’ll have thalassemia.
- Alpha globin protein chains consist of four genes, two from each parent.
- Beta globin protein chains consist of two genes, one from each parent.
The thalassemia you have depends on whether your alpha or beta chain contains the genetic defect. The extent of the defect will determine how severe your condition is.
There are several types of thalassemia. The signs and symptoms you have depend on the type and severity of your condition.
Thalassemia signs and symptoms can include:
- Fatigue
- Weakness
- Pale or yellowish skin
- Facial bone deformities
- Slow growth
- Abdominal swelling
- Dark urine
Some babies show signs and symptoms of thalassemia at birth; others develop them during the first two years of life. Some people who have only one affected hemoglobin gene don’t have thalassemia symptoms.
Moderate and severe thalassemia are often diagnosed in childhood because symptoms usually appear within the first two years of your child’s life.
the doctor may request various blood tests to diagnose thalassemia:
- A complete blood count (CBC) that includes measures of hemoglobin and the quantity (and size) of red blood cells. People with thalassemia have fewer healthy red blood cells and less hemoglobin than normal. They may also have smaller-than-normal red blood cells.
- A reticulocyte count (a measure of young red blood cells) may indicate that your bone marrow isn’t producing enough red blood cells.
- Studies of iron will indicate whether the cause of your anemia is an iron deficiency or thalassemia.
- Hemoglobin electrophoresis is used to diagnose beta thalassemia.
- Genetic testing is used to diagnose alpha thalassemia.
