Charlotte, NC
Ritu Pokharel Dahal, MD
Gauri Adhikari, MD
Highlights of Thalassemia
A thalassemia is a group of inherited hemoglobin disorders that affect approximately 1 in 100,000 people globally. In this condition, the body doesn’t produce sufficient hemoglobin. Insufficient hemoglobin results in fewer healthy red blood cells, leading to decreased oxygen delivery to cells throughout the body, causing fatigue, weakness, or shortness of breath—a condition known as anemia. Thalassemia can range from mild to severe, with severe cases potentially causing organ damage and even death.
Thalassemia is categorized into two main types depending on the defective gene responsible for the compromised oxygen-carrying capacity of the red blood cells. The types of thalassemia are:
Alpha-thalassemia is defined as reduced or absent production of α-globin. Four genes are
necessary to form an Alpha-globin chain inherited from both parents, two from each. Your symptoms will vary depending on the number of affected or deleted genes. If someone inherits:
Normally, the beta hemoglobin chain is encoded by two genes, resulting in two main forms of the disease. If you have:
The symptoms of thalassemia are due to the decreased number of healthy red blood cells. Thus, the symptoms you experience depend on how severe your condition is.
If you’re missing one alpha gene, you likely won’t have symptoms. With two missing alpha genes or one missing beta gene, you may have symptoms of mild anemia, such as fatigue.
Thalassemia intermedia presents with mild to moderate forms of similar symptoms, such as,
People with hemoglobin H disease or Beta-thalassemia major have severe forms of thalassemia. Symptoms typically appear within the first 2 years of life and may include severe anemia like dizziness and fast heart rate, along with other health issues such as:
Diagnosis of thalassemia involves a series of steps to identify the presence of abnormal hemoglobin production, which characterizes this genetic blood disorder. The following are the tests are done for the diagnosis of thalassemia:
A CBC is a routine blood test that provides information about the number and characteristics of different blood cells, including red blood cells (RBCs), white blood cells (WBCs), and platelets. The CBC may reveal microcytic hypochromic anemia in thalassemia, characterized by small and pale red blood cells.
This test identifies and quantifies the different types of hemoglobin present in the blood. In thalassemia, there may be an imbalance in the types of hemoglobin, with reduced levels of normal adult hemoglobin (HbA) and increased levels of fetal hemoglobin (HbF) or other abnormal hemoglobin variants, depending on the specific type of thalassemia.
Genetic testing may be performed to confirm a diagnosis of thalassemia and determine the specific type and severity of the condition. This typically involves analyzing DNA samples obtained from a blood sample to identify mutations in the genes responsible for producing hemoglobin.
Expectant parents of thalassemia carriers may consider prenatal testing. This involves,
The treatment of thalassemia varies depending on the type and severity of the condition. While some individuals with thalassemia may not require treatment or may only need occasional medical care, others may require regular monitoring and intervention to manage symptoms and complications. Here are some common treatment approaches for thalassemia:
Regular blood transfusions are often necessary for individuals with moderate to severe thalassemia, such as thalassemia major. Transfusions help replenish the supply of healthy red blood cells and improve symptoms of anemia, such as fatigue and weakness. However, frequent transfusions can lead to iron overload in the body.
Iron overload resulting from repeated blood transfusions can damage organs, particularly the heart, liver, and endocrine glands. Iron chelation therapy involves using medications (such as deferoxamine, deferiprone, or deferasirox) to remove excess iron from the body and prevent complications associated with iron overload.
Folic acid (vitamin B9) supplementation is often prescribed to individuals with thalassemia to support red blood cell production and minimize the risk of developing megaloblastic anemia.
For individuals with severe thalassemia who have a suitable donor, bone marrow transplantation (also known as hematopoietic stem cell transplantation) may offer a potential cure. This procedure involves replacing the defective bone marrow with healthy stem cells from a donor, which can produce normal red blood cells.
Gene therapy is an experimental approach being investigated as a potential treatment for thalassemia. This involves introducing healthy copies of the defective genes responsible for thalassemia into the patient’s bone marrow cells to restore normal hemoglobin production.
Hydroxyurea is a medication that can stimulate the production of fetal hemoglobin (HbF), which has a higher oxygen-carrying capacity than adult hemoglobin. This therapy may reduce the need for blood transfusions and alleviate symptoms in some individuals with thalassemia.
Additional treatments may be necessary to manage complications associated with thalassemia, such as bone deformities, growth delays, infections, and complications related to iron overload.
Thalassemia patients, particularly those not undergoing transfusion, should avoid iron-rich foods and consume tea with meals to lower iron absorption. Transfused patients benefit from a low-iron diet, limiting intake to under 10 mg/day for children under 10 and 18 mg/day for older individuals to prevent organ damage from iron accumulation. Thalassemia patients should avoid foods high in iron, such as oysters, liver, pork, beans, beef, peanut butter, tofu, flour tortillas, infant cereal, cream of wheat, Malt-O-Meal, iron-fortified cereals, prune juice, prunes, watermelon, spinach, leafy greens, dates, raisins, broccoli, peas, and fava beans.
Women with severe forms of thalassemia can have successful pregnancies, but consulting with your healthcare team is advisable. It’s important to consider genetic counseling and potential fertility treatments.
Increased monitoring and adjustments to treatment may be necessary, as pregnancy can pose risks such as heart issues for the mother and growth problems for the baby.
If pregnancy isn’t planned, reliable contraception is recommended.
Improved treatments enable individuals with moderate and severe thalassemias to live significantly longer. Consequently, they must manage the long-term complications associated with these disorders. Possible Complications of thalassemia are:
Individuals with thalassemia who receive regular blood transfusions risk developing iron overload, as each transfusion introduces excess iron into the body. Iron overload can lead to organ damage, particularly to the heart, liver, and endocrine glands, increasing the risk of heart failure, liver cirrhosis, diabetes, and other complications.
Splenomegaly and increased destruction of red blood cells by the spleen (hypersplenism) can exacerbate anemia and lead to a further decrease in red blood cell count, worsening symptoms such as fatigue and weakness.
Individuals with thalassemia, particularly those who have undergone splenectomy, are at increased risk of infections, particularly those caused by encapsulated bacteria such as Streptococcus pneumonia, Haemophilus influenzae, and Neisseria meningitidis. This is due to the spleen’s role in the body’s immune system and the loss of splenic function following splenectomy.
Thalassemia can affect bone growth and development, leading to skeletal abnormalities such as osteoporosis, bone marrow expansion, and bone deformities (e.g., widening of facial bones and thinning of long bones). These changes can cause skeletal pain, fractures, and impaired mobility.
Chronic anemia and associated complications can interfere with normal growth and development in children with thalassemia, leading to growth delays, developmental delays, and cognitive impairments.
