Thalassemia: Symptoms, Causes, Types, Pictures, Treatment

Experiencing symptoms like jaundice, chest pain, and breathing problems but unable to pinpoint their cause? These symptoms may result from thalassemia, an inherited disorder that leads to less haemoglobin than normal. In India, there are about 100,000 patients with β thalassemia syndrome and about 35 to 45 million β thalassemia carriers.

The severity of thalassemia can be mild, where individuals may be asymptomatic or have minimal symptoms. Thalassemia can also have severe forms that require regular blood transfusions and extensive medical management. The following article discusses thalassemia's meaning, symptoms, causes, and treatment in detail.

Thalassemia definition is a genetic blood disorder characterised by abnormal production of haemoglobin. It is the protein responsible for carrying oxygen in red blood cells. An individual with thalassemia produces less haemoglobin. 

As a result, there is excessive destruction of red blood cells, leading to anaemia. It is a condition of having fewer red blood cells. The cells in the body need oxygen to make energy and thrive. Fewer red blood cells can deprive the body’s cells of oxygen.

To make haemoglobin, an individual needs two proteins called alpha and beta. Without any one of these, the red blood cells cannot carry oxygen as they usually would. There are two main thalassemia types:

1. Alpha Thalassemia: In alpha thalassemia, the production of alpha haemoglobin protein chains is reduced.
   The severity of this disease depends on the number of gene mutations a person inherits from their parents. 

2. Beta Thalassemia: In beta thalassemia, the production of beta haemoglobin protein chains is reduced. Individuals inherit two beta-globin genes, one from each parent.
   Beta thalassemia develops when one or both genes are mutated. 

Thalassemia symptoms can vary depending on the type and severity of the condition. Individuals may sometimes experience no symptoms if they have one missing alpha gene. Patients may be asymptomatic in case of two missing alpha genes or one beta gene. Mild to moderate symptoms of thalassemia include

1. Fatigue and Weakness: Thalassemia can result in anaemia, causing fatigue, weakness, and a general lack of energy.  

2. Delayed Growth: The disease can affect growth and development in children, causing delayed milestones and smaller stature.

3. Bone Abnormalities: Individuals with thalassemia may develop bone abnormalities such as osteoporosis (a bone disease that causes a loss of bone density). 

4. Enlarged Spleen: The increased breakdown of red blood cells can cause the spleen to enlarge, resulting in abdominal discomfort, swelling, or a feeling of fullness

More severe symptoms associated with missing three alpha genes and two beta genes include:

1. Poor Appetite: A reduction in red blood cells can reduce oxygen-carrying capacity, leading to decreased energy levels and interest in eating.

2. Pale or Yellowish Skin: Anemia can cause pale or yellowish skin (jaundice) due to the breakdown of red blood cells.

3. Dark Urine: The breakdown of red blood cells may release bilirubin (the yellow pigment in bile) in the urine. This makes the urine dark or tea-coloured. 

4. Facial Bone Deformities: Some individuals with severe thalassemia may develop characteristic facial bone deformities. These deformities include larger cheekbones and flattened nasal bridges.

Haemoglobin contains alpha and beta haemoglobin protein chains. Each chain contains genes passed from the parents to their children. 

1. A person has two copies of the haemoglobin alpha chain (HBA1 and HBA2) located on chromosome 16. 

2. The haemoglobin beta gene (HBB) is located on chromosome 11. 

Thalassemia causes include a mutation or abnormality in one of these genes. The thalassemia a person has depends on the chain (alpha or beta) that contains the genetic defect.
The extent of the defect helps determine the severity of the condition. 

1. In alpha thalassemia, there is a lack of alpha chain. The excess beta chain causes poor oxygen binding and hypoxemia (low oxygen in tissues). 

2. In beta thalassemia, there is a lack of a beta chain. The excess alpha chains form insoluble aggregates inside RBCs, causing their death and severe anaemia. 

Thalassemia Risk Factors

Certain factors can increase the risk of thalassemia in individuals. However, only some people with these risk factors may develop the condition. Factors that increase the risk include:

1. Family History: Thalassemia is an inherited disorder. Therefore, individuals with parents who carry thalassemia gene mutations have a greater risk of having this condition.

2. Ethnicity: The risk of thalassemia is highest in African Americans and people of Southeast Asian and Mediterranean descent. It is more common in regions where malaria is or has been endemic.
   While the reason is unclear, it is believed that carriers of thalassemia mutations have some protection against severe forms of malaria.

Thalassemia is primarily a genetic disorder, and currently, there is no known way to prevent the inheritance of thalassemia gene mutations from parents.
However, several steps can be taken to reduce the risk of thalassemia:

1. Genetic Counselling: Individuals with a family history of thalassemia should consider genetic counselling before planning children. Genetic counsellors can provide information about the risk of thalassemia, perform genetic testing, and discuss available options.

2. Preimplantation Genetic Diagnosis: Couples with a risk of having a child with thalassemia may undergo assisted reproductive techniques.
   A technique called in-vitro fertilisation (IVF), with a preimplantation genetic diagnosis, can be useful. This helps screen an embryo in its early stages for genetic changes. 

In this procedure, mature eggs are retrieved and fertilised with sperm in a laboratory. The embryos are tested for genetic mutations. Only those without defects are implanted in the uterus.

Most children with moderate or severe thalassemia disease receive a diagnosis in childhood. This happens because symptoms usually appear within the first two years of a child’s life.
Thalassemia tests used for diagnosis of the condition include:

1. Blood Tests: A complete blood count (CBC) is often the initial test to assess the levels of red blood cells, haemoglobin, and other parameters.
   They also help determine if the red blood cells are oddly shaped. Individuals with thalassemia have less healthy red blood cells and haemoglobin than normal.  

2. Reticulocyte Count: The test measures how fast the bone marrow produces and releases reticulocytes (immature red blood cells).
   Reticulocytes develop into mature blood cells after spending about two days in the bloodstream.
   The test helps determine whether the bone marrow produces enough red blood cells. 

3. Iron Studies: Measuring iron levels helps determine whether the cause of anaemia is iron deficiency or thalassemia.
   Thalassemia is not caused by iron deficiency. 

4. Haemoglobin Electrophoresis: This test separates different molecules in the red blood cells, helping to identify abnormal haemoglobin patterns associated with thalassemia. 

5. Genetic Testing: DNA analysis helps determine if the individual has thalassemia or mutated genes. 

6. Prenatal Testing: It determines if the foetus has thalassemia and its severity. These tests may include:

1. Chorionic Villus Sampling (CVS): The test involves removing a tiny piece of placenta for evaluation around the 11th week of pregnancy. 

2. Amniocentesis: Doctors examine a sample of amniotic fluid (the fluid surrounding the foetus) around the 16th week of pregnancy. 

How to Prepare for a Doctor Consultation?

Preparing for a doctor’s consultation for thalassemia involves gathering relevant information beforehand. This helps individuals make the most of their appointment.
The following is how a person can prepare:

1. Gather Family Medical History: Thalassemia is an inherited disorder. Therefore, individuals must list family members who have had thalassemia. 

2. Note Down Symptoms: Patients must note down their symptoms, including the ones that seem unrelated to the condition. 

3. Make a List of Medications: They must list all the medications, vitamins, and supplements they take, along with their doses.
   This helps the doctor understand the potential drug interactions.  

4. Prepare Questions: Create a list of questions to ask the doctor. Patients must consider asking about the specific type of thalassemia, treatment options, potential complications, and any concerns regarding family planning or genetic counselling.

What to Expect from the Doctor?

During a thalassemia consultation appointment, the doctor may ask the patient various questions to better understand their condition and medical history.
While specific questions may vary depending on individual circumstances, here are some common questions patients can expect:

1. What symptoms are you experiencing?

2. Are the symptoms continuous or occasional?

3. How severe are the symptoms?

4. Does anything seem to improve or worsen the symptoms?

5. Do you have a family history of thalassemia?

6. Are you taking any medications or supplements for thalassemia or other health conditions?

Questions to Ask the Doctor

During a thalassemia consultation, patients must ask questions to gather information and address any concerns. Here are some questions they can consider asking the doctor:

1. What is the cause of my symptoms?

2. What kind of tests do I need for diagnosis?

3. What specific type of thalassemia do I have? Is it alpha thalassemia or beta thalassemia?

4. What are the treatment options available for thalassemia? Which one do you recommend?

5. What are the most common side effects of each treatment?

6. How can I manage thalassemia with other health conditions?

7. Will I need blood transfusions? If yes, how frequently?

8. What is iron chelation therapy, and how does it work?

9. Are there any lifestyle modifications or dietary recommendations to follow?

10. What is my prognosis with thalassemia?

11. If I plan to have children, what are the risks of passing thalassemia to my children? Are there any preventive measures or options available?

Thalassemia treatment depends on the specific type and severity of the condition. Mild forms of alpha or beta thalassemia trait do not require treatment.
The common treatment approaches for moderate to severe thalassemia include:

1. Blood Transfusions: Regular blood transfusions are a common treatment for severe forms of thalassemia.
   Transfusions involve injecting healthy red blood cells through a vein. It compensates for the reduced or abnormal red blood cells in thalassemia patients. 

1. Patients with moderate or severe thalassemia will receive blood transfusions every four months. 

2. Patients with beta-thalassemia major will receive transfusions every two to four weeks. 

3. Occasionally transfusions may be required during illness or infection for haemoglobin H disease or beta thalassemia intermedia. 

2. Iron Chelation Therapy: Thalassemia patients who receive regular blood transfusions have a high risk of iron overload due to the excess iron in transfused blood.
   Some thalassemia patients who do not have regular transfusions can also develop excess iron. 

   Iron chelation therapy involves using medication to remove excess iron from the body.
   Doctors may give oral medicines like deferasirox or deferiprone.

3. Folic Acid Supplements: People who undergo blood transfusions and chelation therapy may also need folic acid supplements.
   They help the body make healthy blood cells. 

4. Bone Marrow Transplant (Stem cell transplant): Bone marrow transplant may be considered in some cases of thalassemia.
   It involves injecting bone marrow stem cells from a compatible donor into the patient’s bloodstream. 

   Transplanting stem cells from a compatible donor is the only treatment to cure thalassemia.
   The procedure can eliminate the need for lifelong blood transfusions in children with severe thalassemia.

5. Surgery: Some people may need surgery to remove their spleen or gallbladder. Surgery may also be necessary to correct bone abnormalities. 

6. Gene Therapy: It is an emerging treatment option for thalassemia. It involves inserting a normal beta-globin gene in the individual’s bone marrow.
   Doctors may also use medicines to reactive the genes responsible for producing foetal haemoglobin. Gene therapy is still under investigation and is not widely available.

Please Note: The selection of the treatment approach is based on the patient’s condition and the treating doctor’s opinion. 

Cost of Thalassemia Treatment

The cost of thalassemia treatment is influenced by several factors, including the patient’s age, patient comorbidities, treatment approach, hospital type and location, insurance coverage, and much more.

To know the exact cost of the thalassemia treatment, one must consult their healthcare provider. However, the table below also provides the approximate cost of various treatment modalities for thalassemia treatment.

Prognosis for Thalassemia 

The prognosis and outlook can vary depending on factors like the specific type and severity of thalassemia. The outlook for individuals with thalassemia has significantly improved over the years owing to advancements in medical care and treatment options.
Many individuals with thalassemia live as long as people without the disease.

However, in some cases, heart complications due to iron overload can make this condition fatal. Therefore, it is important to get regular iron chelation therapy.

Thalassemia can lead to several complications, especially when left untreated or poorly managed. Complications of thalassemia depend on the severity of the condition. 

However, not everyone with thalassemia experiences these problems. Moderate to severe thalassemia may cause complications such as:

1. Iron Overload: Regular blood transfusions or the disease itself can lead to excess iron accumulation in the body, known as iron overload. Over time, this excess iron can damage various organs, including the heart, liver, and endocrine system.

2. Infection: Thalassemia patients are more susceptible to infections, particularly if they have had their spleen removed. 

Severe cases of thalassemia may cause the following complications:

1. Enlarged Spleen: The spleen filters old and damaged blood cells. Several red blood cells are destroyed in thalassemia, causing the spleen to enlarge and work too hard.
   An enlarged spleen can reduce the life of transfused blood cells. If the spleen gets too big, the doctor may need to remove it. 

2. Bone Deformities: In some cases, thalassemia can expand the bone marrow, leading to the deformation of bone around it. This especially happens in the face and skull.
   Bone marrow expansion can also make the bones thin and brittle, leading to osteoporosis, which increases the risk of fractures. 

3. Delayed Growth: Children with severe forms of thalassemia may experience slow growth and delayed puberty due to anaemia.

4. Heart Problems: Severe thalassemia can increase the risk of congestive heart failure and arrhythmias (abnormal heart rhythms). 

When to See a Doctor?

It is advisable to see a doctor if someone suspects that they or their child may have thalassemia or if they have a family history of thalassemia. Common symptoms that may indicate the need for contacting a doctor include:

1. Chronic fatigue

2. Weakness

3. Pale and yellowish skin

4. Dark urine

5. Frequent infections

Patients must also contact their doctor if new symptoms develop during treatment. 

While no specific diet can cure thalassemia, maintaining a healthy diet can help manage certain aspects of the condition.
Here are some dietary recommendations that may be beneficial for individuals with thalassemia:

Thalassemia patients should eat food rich in the following: 

1. Folic Acid: Thalassemia can cause folic acid deficiencies. Patients should consume natural sources of folic acid, such as dark leafy greens (kale and spinach) and legumes.
   If the patient does not get enough folic acid in their diet, the doctor may prescribe supplements to be taken daily.

2. Calcium and Vitamin D: Thalassemia may require adequate calcium and vitamin D intake, especially when accompanied by bone deformities. 

1. Calcium-rich foods may include milk, cheese, yoghurt, white beans, etc. 

2. For vitamin D, individuals should choose products fortified with the vitamin. They may also need to take supplements as getting adequate vitamin D through food is difficult. 

3. Protein Foods: Protein is crucial for growth and development in a child. However, some protein-rich foods are also high in iron. 

1. Foods to eat include eggs, beans, yoghurt, nuts, cheese, etc. 

2. Foods to consume in moderation due to their high iron content include liver, beef, lamb, etc. 

Furthermore, individuals should avoid the following:

1. Iron-rich Food: Thalassemia patients typically have iron overload due to regular blood transfusions.
   Therefore, avoiding excessive iron-rich foods, such as fish, meats, fortified cereals, bread, and juices, is important. 

Thalassemia is a genetic blood disorder affecting the production of haemoglobin, leading to anaemia and potential complications. It can range from mild to severe, requiring lifelong medical care and treatment.
Thalassemia meaning lies in understanding the genetic nature of the condition and the importance of comprehensive healthcare for those affected.

The HexaHealth team is equipped to provide specialised care and support for patients with thalassemia. Our experienced healthcare professionals have a deep understanding of the pathophysiology of thalassemia, enabling them to develop personalised treatment plans.

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