What is B Thalassemia?
Beta thalassemia (B thalassemia) is an inherited blood disorder that reduces the production of normal hemoglobin in the body. Hemoglobin is a crucial part of red blood cells and is responsible for carrying oxygen throughout the body. When there is abnormal hemoglobin, anemia and other health issues can occur.
B thalassemia can be placed under two categories.
Thalassemia Major (Cooley’s Anemia)
- This is the more severe form of beta thalassemia.
- Signs and symptoms appear within the first two years of life.
- Requires regular RBC transfusions to survive.
- This is the milder form of beta thalassemia.
- Signs and symptoms appear in early childhood, or later in life.
- Does not require regular RBC transfusions to survive.
10 Common B Thalassemia Symptoms in Adults
Symptoms of beta thalassemia range from mild to severe, depending on the type. For the purpose of this article, we will be discussing the symptoms of beta thalassemia intermedia. When this disorder is severe, patients typically present between 2 to 6 years of age, and while they can often survive without regular RBC transfusions, their growth and development are often stunted. Conversely, there are other patients with this disorder who have no symptoms until adulthood, with only mild anemia. For the purpose of this article, we will be focusing on 10 symptoms of beta thalassemia intermedia in adults.
1. Anemia (Not Enough Red Blood Cells)
Moderately severe anemia is quite common in patients with beta thalassemia, and may require periodic red blood cell transfusions.
2. Bone Deformities
Bone deformities, particularly in the long bones of the arms and legs, as well as certain bones in the face, are common in patients with beta thalassemia, as the disorder can result in expansion of the bone marrow, leading to widening of the bones and characteristic deformities.
When the bones of the face are affected, certain distinctive facial features may be seen including: an abnormally prominent forehead, full cheek bones, depressed nose bridge and overgrowth of the upper jaw, which exposes the upper teeth.
Some patients may develop genu valgum (knock knee) where the legs bend inwards causing the knees to touch when standing, even when the ankles and feet are separated.
3. Osteoporosis With Fractures of Long Bones
Bone marrow expansion causes the bones to become wide, thin and brittle, making them more susceptible to fractures. This is particularly true for the long bones of the arms and legs.
4. Pale Skin or Jaundice
Pale skin or yellowish skin (jaundice) is common in individuals with beta thalassemia.
Excessive fatigue, despite being well-rested, is another symptom of beta thalassemia.
6. Difficulty Breathing
One of the more common symptoms of beta thalassemia is difficulty breathing. This may include shortness of breath, increased heart rate and chest pain.
7. Spleen Enlargement
Spleen enlargement is a serious symptom of beta thalassemia. The spleen helps the body to fight off infection, and helps with filtering out toxins from the body. When red blood cells are destroyed by beta thalassemia, the spleen has to work harder, leading to enlargement.
Due to abnormal red blood cells, patients with beta thalassemia often develop gallstones.
9. Leg Ulcers and Increased Risk of Thrombotic Events
Patients with beta thalassemia, particularly those who have had their spleen removed, commonly develop leg ulcers, and are at an increased risk of thrombotic events, including deep vein thrombosis, portal vein thrombosis, pulmonary embolism and stroke.
10. Increased Iron Levels
Individuals with beta thalassemia intermedia may have a buildup of iron in the body, which may be caused by the disorder itself, or from repeated blood transfusions. A buildup of iron can lead to liver, heart and endocrine system damage.
Treatment Options for Adults With Beta Thalassemia
Treatment for adults with beta thalassemia intermedia is based on symptoms.
In some cases, occasional red blood cell transfusions for anemia are necessary. Other treatment options include splenectomy, followed by immunization against various bacteria, like:
- Streptococcus pneumoniae.
- Haemophilus influenzae.
- Neisseria meningitidis).
Infection is known to occur after the removal of the spleen, so antibiotic prophylaxis and early initiation of antibiotic therapy for fever and/or malaise are used.
Additionally, because patients are at a higher risk of thrombotic events following splenectomy, thrombotic complications must be considered, and proper anticoagulation therapy should be discussed with patients, which would be utilized before surgery or other high-risk procedures.
Due to the increased risk of gallstones in patients after splenectomy, the gallbladder should be inspected during surgery, and removed if necessary to prevent gallstones from developing. Regular red blood cell transfusion, pentoxifylline, zine supplements and oxygen-chamber therapy may be used for leg ulcers. Chelation therapy is typically started in patients with a serum ferritin concentration over 300ng/ml to reduce the risk of iron overload in the body. Folic acid supplementation may be used to prevent deficiencies resulting from overactive bone marrow.
While beta thalassemia intermedia is the milder form of this disorder, symptoms can still impact an individual’s quality of life. It’s important to seek treatment at the first signs of the disorder to get an accurate diagnosis and start effective treatment.