Thalassemia

Symptoms of thalassemia generally occur during childhood or late adolescence. For individuals with thalassemia minor, symptoms may not be visible. However, those suffering from thalassemia major may experience a wide range of symptoms, with severity varying depending on the type of thalassemia. Common signs and symptoms include:

• Weakness or fatigue: This occurs because hemoglobin cannot carry enough oxygen to various parts of the body, leading to reduced energy production.
• Pale or yellowish skin: Individuals with thalassemia may exhibit extremely pale or yellowish skin due to reduced red blood cell counts.
• Weak and brittle bones: An increase in iron levels can interfere with calcium and Vitamin D absorption, resulting in weak and brittle bones over time.
• Dark urine: Increased breakdown of red blood cells can lead to excess bilirubin release, causing darker urine.
• Deformities in the face or skull: Thalassemia can cause bone expansion, leading to widening of the facial bones.
• Growth failure: Anemia may slow a child's growth, and puberty can be delayed in those with thalassemia.
• Iron overload: Individuals with thalassemia may experience iron overload from the disease or frequent blood transfusions, which can damage the heart, liver, and endocrine system. Without adequate iron chelation therapy, patients with beta-thalassemia are at risk of accumulating potentially fatal iron levels.
• Infection: There is an increased risk of infection in people with thalassemia, particularly if the spleen has been removed.
• Enlarged spleen: The spleen helps fight infection and filters old or damaged blood cells. Thalassemia often leads to the destruction of numerous red blood cells, causing splenomegaly, which can exacerbate anemia and reduce the lifespan of transfused red blood cells. Severe enlargement may necessitate spleen removal.

Every person has three types of blood cells in their body: red blood cells (RBCs), white blood cells (WBCs), and platelets. The red blood cells contain an iron-rich protein known as hemoglobin, which is responsible for transporting oxygen from the lungs to other parts of the body.

Thalassemia occurs when there is a mutation in the gene that controls the formation of red blood cells. Hemoglobin in our body consists of two types of protein chains: alpha-globin and beta-globin. If mutations in the gene cause either the alpha protein chain or the beta protein chain to be abnormal, it may inhibit the production of red blood cells in the body. This results in an insufficient number of cells to carry oxygen to various organs, leading to impaired bodily functions.

The reduction in the number of alpha chains leads to alpha-thalassemia, while the reduction in the number of beta chains causes beta-thalassemia. Children typically inherit these mutations from their parents. Both alpha- and beta-thalassemias are often inherited in an autosomal recessive manner. Cases of dominantly inherited alpha- and beta-thalassemias have been reported, the first of which was in an Irish family with two deletions of 4 and 11 bp in exon 3, interrupted by an insertion of 5 bp in the beta-globin gene. For the autosomal recessive forms of the disease, both parents must be carriers for a child to be affected.

As thalassemia is passed on from parents to children, the factors that may increase the risk of having thalassemia are:

• Family history: If either of your parents or close relatives suffer from thalassemia, you are at a greater risk of developing it.
• Belonging to a certain ancestry: Thalassemia is predominantly found in African Americans and Southeast Asians.

If you experience any thalassemia symptoms such as fatigue, it is wise to consult a doctor. It may also be advisable to consult a doctor if you are pregnant and either you or your partner has thalassemia or is a carrier. Your doctor might perform a physical examination followed by several thalassemia tests to evaluate the severity of your child's condition. The tests include:

• Complete blood count (CBC): This test evaluates the number of red blood cells in your body. It also detects the amount of hemoglobin in the cells and determines their shape and size.
• The Mentzer index: This index is calculated from the results of a complete blood count. If the quotient of the mean corpuscular volume (MCV, in fL) divided by the red blood cell count (RBC, in millions per microLiter) is less than 13, thalassemia is considered more likely. If the result is greater than 13, then iron-deficiency anemia is considered more likely.
• Blood smear: In this test, a trained professional examines a sample of your blood under a microscope. This test helps detect any abnormal cells in the blood.
• Iron studies: These tests measure the body's iron storage capacity and usage. It may include tests for determining unsaturated iron-binding capacity, iron-binding capacity, and percent saturation of transferrin.
• Prenatal testing: This testing is carried out during pregnancy to determine whether a baby has thalassemia before birth. Tests used to diagnose thalassemia before birth include:
  • Chorionic villus sampling: In this test, a tiny sample of the placenta is evaluated to find out whether the baby has the condition.
  • Amniocentesis: Generally done during the 16th week, this test examines the fluid surrounding the fetus.
• Hemoglobin electrophoresis: This test helps identify different types of hemoglobin present in the blood. It aids in detecting the abnormal type of hemoglobin and diagnosing different types of anemia.

To obtain the correct diagnosis, it is important to consult the right doctor. Consult India’s best doctors online.

As thalassemia is an inherited condition, it may be challenging to prevent it. However, there are ways to manage the condition and reduce its implications on your health, except for genetic screening. One effective method to prevent the transmission of thalassemia from parents to offspring is through genetic screening. If either or both partners are carriers of the gene that causes thalassemia, genetic screening may help determine whether the baby is affected.

There are several types of prenatal tests available that can be conducted in the early or later stages of pregnancy to check whether your baby is safe or has thalassemia, either major or minor.

Large-scale awareness campaigns are being organized in India by both the government and non-government organizations to promote voluntary premarital screening for detecting carriers of thalassemia. Marriage between carriers is strongly discouraged.

People who have thalassemia minor and show mild symptoms may not require any treatment. However, for individuals with moderate to severe thalassemia, the following treatments may be necessary:

1. Vitamin Supplements

Vitamin supplements may be required in addition to the regular treatments available to manage thalassemia effectively. For thalassemia minor patients, only vitamin supplements may be recommended to manage the condition. Folic acid is the most common vitamin recommended for people with thalassemia. It helps build healthy red blood cells and is prescribed alongside transfusions and iron chelation therapy. Additionally, your doctor may prescribe Vitamin D and calcium supplements to prevent osteoporosis and strengthen bones.

2. Iron Chelation Therapy

The hemoglobin present in red blood cells contains a high amount of iron. Frequent blood transfusions may lead to an accumulation of excess iron in the body, resulting in iron overload that can damage the heart, liver, and other organs. Even for individuals who do not have frequent transfusions, iron overload can still occur. Your doctor may recommend iron chelation therapy to maintain your health and eliminate excess iron from your body. Common medications used for iron chelation therapy include:

• Deferoxamine: An injectable administered overnight, which may take time and lead to various side effects.
• Deferasirox: A pill taken once daily, which may cause short-lived side effects such as nausea and vomiting.
• Deferiprone: An oral medication that may cause nausea, vomiting, and diarrhea. It is available in both Europe and the United States and appears to be the most effective agent when the heart is significantly involved.

3. Blood Transfusions

Blood transfusion is considered the best treatment for individuals with thalassemia major. In this procedure, healthy red blood cells with high hemoglobin are transferred into the body via an intravenous (IV) line, typically taking 1 to 4 hours. Red blood cells (RBCs) usually survive for only up to 120 days, necessitating frequent blood transfusions to manage the condition. In cases of beta-thalassemia intermedia, transfusions may be required occasionally, such as during severe anemia or infections.

4. Bone Marrow Transplant

A bone marrow transplant, also known as stem cell transplant, may be considered for severe cases of thalassemia. Bone marrow, a spongy tissue inside bones, contains stem cells responsible for producing red and other types of blood cells. A bone marrow transplant is the only effective treatment for thalassemia and may eliminate the need for frequent blood transfusions in children. This procedure involves receiving stem cells from a compatible donor, which are then infused into the body. Success rates range from 80% to 90%, with a mortality rate of about 3%. Graft-versus-host disease (GvHD) is a potential side effect of bone marrow transplantation, and further research is needed to evaluate the use of mesenchymal stromal cells as prophylaxis or treatment for GvHD.

5. Hemoglobin (Hb) Inducer Drugs

Thalassemia patients who do not respond well to blood transfusions can take hydroxyurea or thalidomide, sometimes in combination. Hydroxyurea is the only FDA-approved drug for thalassemia. Patients taking 10 mg/kg of hydroxyurea daily for a year experienced significantly higher hemoglobin levels, and it was well-tolerated in those who did not respond well to blood transfusions. Thalidomide, though not tested in a clinical setting, is another hemoglobin inducer. The combination of thalidomide and hydroxyurea has led to significant increases in hemoglobin levels in both transfusion-dependent and non-transfusion-dependent patients.

6. Gene Therapy

Gene therapy is currently being studied for thalassemia. The procedure involves collecting hematopoietic stem cells (HSCs) from the affected person's blood. The HSCs are then modified to include a beta-globin gene using a lentiviral vector. After destroying the affected person's bone marrow with a chemotherapy dose (myeloablative conditioning regimen), the altered HSCs are infused back into the individual, where they engraft in the bone marrow and proliferate. This may result in a progressive increase in hemoglobin A2 synthesis in developing red blood cells, leading to the resolution of anemia. While one individual with beta thalassemia has not required blood transfusions following treatment in a research trial, this therapy has not been approved as of 2018.

Diet plays a key role in the management of thalassemia. Here are some dos and don'ts you need to follow to help your body manage thalassemia:

Do’s

• Eat foods rich in calcium such as milk and other dairy products.
• Consume a well-balanced diet that is low in sugar and carbohydrates.
• Ask your doctor about the additional vitamin supplements that you may need to consume.

Don’ts

• Avoid intake of iron supplements.
• Avoid intake of foods rich in iron such as spinach, broccoli, dates, and fish.
• Avoid engaging in strenuous exercises.
• Avoid smoking or consuming alcohol.
• Do not take any supplements or medicines without consulting your doctor.
• Wash your hands regularly and avoid going near sick people if you've had your spleen removed.

Having thalassemia minor may not lead to any complications. However, if you have moderate to severe thalassemia, certain complications may arise:

• Iron overload: Thalassemia may lead to an increase in the amount of iron in the body. A greater amount of iron may cause damage to the heart, liver, or other organs.
• Enlarged spleen: Thalassemia may lead to inflammation and enlargement of the spleen. The spleen filters unwanted red blood cells, and an enlarged spleen may worsen anemia.
• Heart problems: Thalassemia can lead to severe heart issues, such as abnormal heart rhythms or heart failure, if left untreated.
• Infections: Individuals with thalassemia who have had their spleen removed are at a greater risk of developing various infections.
• Delayed growth: Thalassemia may slow down or delay a child's growth.
• Bone deformities: Thalassemia may expand the bone marrow and widen the bones in the face or skull, making the bones more brittle and increasing the risk of fractures.

Since thalassemia is a genetic condition, no home remedies can prevent or treat it. However, certain home remedies may be helpful in managing this condition by providing the vitamins and minerals needed for optimal management. Some of them are as follows:

• Holy basil (tulsi) juice: Tulsi leaves have a variety of properties and are known to boost the production of healthy cells in the body. Tip: Take 5-6 fresh tulsi leaves, blend with water, and strain the mixture into a cup. Drink it regularly in the morning.
• Sunbathing: The sun is a natural source of Vitamin D. Spending a few hours regularly in the sun may help obtain the optimal amount of Vitamin D necessary for healthy bone formation. Tip: Go for a walk early in the morning between 7 and 10 am to achieve optimum levels of Vitamin D.
• Wheatgrass juice: Wheatgrass juice is extracted from the pulp of wheatgrass. Studies have found that a chlorophyll-like compound in wheatgrass helps absorb iron and eliminate it from the body. The juice is side-effect-free and beneficial in managing beta-thalassemia. Tip: Take 4-5 blades of wheatgrass, blend with water, and strain the juice into a cup. Drink it daily on an empty stomach or in the evening.
• Giloy: Giloy satva is a traditional herb that may help alleviate the symptoms of thalassemia. It aids in blood formation and prevents complications associated with this disease. Tip: Add 1 tablespoon of giloy satva extract to hot water, mix well, and drink. It is advised to consume it early in the morning, immediately after waking up.
• Milk: Individuals with thalassemia may experience calcium deficiency and weakened bones. Milk is an excellent source of calcium. Tip: Drink a glass of milk every day after meals to strengthen bones and joints. Avoid adding sugar or honey; drink it plain or as advised by your doctor.

Thalassemia is a genetic blood disorder. This condition may require significant lifestyle changes for proper management. Only a few diet and lifestyle modifications may be necessary if you have thalassemia minor or beta-thalassemia intermedia. However, if you are suffering from thalassemia major, you may need to take medications and additional treatments to manage the condition and prevent long-term complications, in addition to diet and lifestyle changes. It is advisable to avoid over-the-counter medications or supplements without consulting your doctor regarding the severity of your condition and the appropriate treatment approach to manage thalassemia and prevent it from worsening.

Here are a few tips that can help you manage and prevent thalassemia:

• Avoid foods rich in iron that can lead to iron overload, such as spinach, broccoli, and other green leafy vegetables. Refrain from taking supplements that contain iron.
• Avoid any form of strenuous exercise that may exhaust you or place an extra load on your heart.
• Do not miss any of your transfusion or chelation therapy appointments. Maintain regular communication with your doctor and monitor your condition consistently.
• Take all vitamin supplements as recommended by your doctor.
• Get vaccinated against major infections such as pneumonia and flu.
• Opt for prenatal screening if either you or your partner has a family history of thalassemia.

Remember, thalassemia is a serious blood disorder. Consult your doctor if you experience severe anemia or any other symptoms related to this condition.

Thalassemia vs. Sickle Cell Anemia vs. Cooley’s Anemia

Although often used interchangeably, these three terms have different meanings. Thalassemia is a genetic blood disorder inherited from one or both parents, characterized by the production of an abnormal form of hemoglobin. Sickle cell anemia is another genetic disorder that results in red blood cells becoming sickle-shaped. This change in shape causes the red blood cells to die prematurely, leading to severe anemia. The sickle-shaped cells may also obstruct blood flow in the veins, causing pain. Cooley's anemia is commonly used interchangeably with thalassemia; however, it specifically refers to a subtype known as beta-thalassemia major, which occurs when there is an absence of the beta-globin chain during hemoglobin production.