What Our Doctors Want You to Know About Thalassemia

Thalassemia is a genetic disorder that interferes with the body’s ability to produce normal hemoglobin (the protein in red blood cells that carries oxygen). As a result, individuals with Thalassemia often have fewer functional red blood cells and lower hemoglobin levels, which can lead to anemia. This may cause persistent tiredness, physical weakness, and difficulty breathing.

The disorder is most common in regions where malaria has historically been widespread. Carriers, or individuals with only one copy of the mutated gene, often have no or very mild symptoms but can pass the condition on to their children. With this information, a fundamental question arises.

Who’s Most at Risk and Why?

To understand who is likely to develop Thalassemia, we must look at what causes it at the genetic level. You’re born with this condition, passed down from parents to children through specific mutations in the genes that control hemoglobin production. What are the genes behind Thalassemia?

Thalassemia occurs when the genes responsible for producing the globin chains that makeup hemoglobin are mutated or deleted. Hemoglobin is made of two types of protein chains: alpha and beta.

Alpha thalassemia results from mutations in the HBA1 and HBA2 genes, which affect alpha-globin production. Beta thalassemia is caused by mutations in the HBB gene, which disrupts beta-globin production.

Everyone inherits two copies of gene, one from each parent. The severity of thalassemia thalassemia depends on the number of gene copies affected and whether the mutation reduces or completely stops globin chain production.

Carriers typically experience mild or no symptoms but can still pass the gene on to their children. When both parents are carriers, the risk of having a child with moderate to severe Thalassemia increases significantly.

Different Types of Thalassemia

Thalassemia is classified based on which part of the hemoglobin molecule is affected—alpha or beta—and the number of gene mutations involved. Here’s a breakdown of all the major types:

• Alpha Thalassemia

Caused by mutations in the HBA1 & HBA2 genes. Each person has four alpha-globin genes (two from each parent). Severity depends on how many of these genes are faulty or missing:

• Silent Carrier State (1 gene affected): No symptoms. Hemoglobin levels are usually normal. Most people don’t know they carry the gene without specialized blood tests.
• Alpha Thalassemia Trait/Minor (2 genes affected): Mild anemia may occur, but often, there are no apparent symptoms. It may be mistaken for iron deficiency anemia.
• Hemoglobin H Disease (3 genes affected): Moderate to severe anemia. Symptoms may include fatigue, enlarged spleen, bone changes, and jaundice. The condition often requires medical attention and sometimes blood transfusions.
• Alpha Thalassemia Major / Hydrops Fetalis (4 genes affected): A life-threatening condition. Fetuses usually don’t survive or die shortly after birth unless treated with in-utero transfusions. This is considered the most severe form.
• Beta Thalassemia

Caused by mutations in the HBB gene, affecting beta-globin production. Each person has two beta-globin genes (one from each parent):

• Beta Thalassemia Minor (1 gene affected): Beta thalassemia trait or carrier state. Mild anemia or no symptoms at all. Usually, it doesn’t require treatment but is essential in family planning.
• Beta Thalassemia Intermedia (2 genes affected, partially functional): Moderate anemia. It may not need regular transfusions but can develop complications such as bone deformities or splenomegaly over time.
• Beta Thalassemia Major (2 severely mutated genes): Cooley’s Anemia. Severe anemia starts within the first 2 years of life and requires lifelong, regular blood transfusions and medical management. It can lead to growth delays, bone abnormalities, and organ damage without treatment.
• Hemoglobin E–Beta Thalassemia

A hybrid condition occurs when a person inherits one beta-thalassemia gene and one hemoglobin E gene (a common variant in Southeast Asia). Severity ranges from mild to severe & often mimics beta-thalassemia intermedia or major. Some individuals require transfusions, while others don’t.

• Other Rare Forms

Though uncommon, combinations of alpha and beta thalassemia thalassemia or other hemoglobin variants (like hemoglobin S, C, or D) can coexist with thalassemia mutations. These can alter disease severity and complicate diagnosis and treatment.

Medical History and Initial Clues

When evaluating a person for Thalassemia, a doctor typically starts with a detailed medical and family history. A pattern of anemia-related symptoms, especially in early childhood, can raise suspicion. 

Children with more severe forms often show signs within the first two years of life. These may include slowed growth, frequent infections, or unusual tiredness. A family history of anemia or known carriers of the condition also offers critical diagnostic clues.

Certain features during the physical examination may prompt further testing. Pale or yellowish skin (due to anemia or jaundice), an enlarged spleen (palpable on the left side of the abdomen), or signs of bone deformities, particularly in the face or skull, may appear in moderate to severe cases. 

These features develop as the body attempts to compensate for the lack of healthy red blood cells. When considered alongside personal and family medical history, the physical findings often form the first step toward a formal diagnosis.

Diagnosis of Thalassemia 

Once thalassemia thalassemia is suspected, lab tests and genetic evaluations confirm the diagnosis and define its subtype. Here’s a breakdown of the key diagnostic tools:

• Complete Blood Count (CBC)

This is the starting point. It checks overall blood health and often reveals microcytic anemia—where red blood cells are smaller and paler than usual. The RBC count may be normal or high in thalassemia, which helps differentiate it from iron-deficiency anemia.

• Peripheral Blood Smear:

A drop of blood is examined under a microscope to evaluate red blood cells' shape, size, and color. Thalassemia typically shows target cells, nucleated red cells, and anisopoikilocytosis (abnormal sizes and shapes), which give doctors strong diagnostic clues.

• Hemoglobin Electrophoresis

This test separates different types of hemoglobin in the blood. In beta thalassemia, abnormal hemoglobin A2 and fetal hemoglobin (HbF) levels are often present. However, this test may appear normal in alpha thalassemia, especially in silent or trait carriers.

• High-Performance Liquid Chromatography (HPLC)

A more precise method than electrophoresis, HPLC quantifies the various types of hemoglobin. It's commonly used for screening and provides more detailed results—especially useful in identifying compound or mixed hemoglobin disorders.

• Iron Studies

Ferritin and serum iron levels are checked to rule out iron-deficiency anemia, which also causes microcytosis. This helps prevent inappropriate treatment with iron supplements, which can be harmful in thalassemia patients.

• DNA Analysis / Genetic Testing

This confirms the specific gene mutations responsible for alpha or beta-thalassemia. It’s essential in uncertain cases, prenatal diagnosis, and identifying silent carriers—especially in families planning to have children.

• Prenatal Testing (Chorionic Villus Sampling or Amniocentesis)

For parents known to be carriers, fetal testing can be done during early pregnancy to check if the fetus has inherited thalassemia major. This allows families to prepare for treatment early or make informed decisions.

Treatment Options for Thalassemia 

• Blood Transfusions

Regular red blood cell transfusions are the foundation of treatment for moderate to severe Thalassemia (especially beta thalassemia major). These help maintain normal hemoglobin levels, relieve anemia symptoms, and support normal growth and organ function. Depending on severity, transfusions are typically needed every 2–5 weeks.

• Iron Chelation Therapy

Repeated transfusions lead to iron overload, a dangerous iron buildup in the body that can damage the liver, heart, and endocrine organs. Iron chelation therapy removes excess iron. Two main drugs are used.

• Deferoxamine: Given as a slow infusion under the skin
• Deferasirox or Deferiprone: Oral tablets that are easier to use but require regular monitoring for side effects
• Folic Acid Supplements

Folic acid supports red blood cell production and may be prescribed to patients with chronic anemia to help improve blood counts, especially in less severe cases.

• Bone Marrow or Stem Cell Transplantation

The only potential cure for Thalassemia is a procedure that replaces the patient’s defective blood-forming stem cells with healthy ones from a matched donor. This procedure is most successful in younger patients with severe Thalassemia who have compatible donors, but due to its risks and cost, it's not a routine option for everyone.

• Gene Therapy (Emerging)

Experimental but promising gene therapy involves modifying the patient’s cells to produce functional hemoglobin. Some clinical trials have successfully reduced or eliminated the need for transfusions, but this option is still under evaluation and not yet widely available.

• Splenectomy (Surgical Removal of the Spleen)

Removing the spleen can reduce transfusion needs in certain patients, especially those with an enlarged spleen that destroys red blood cells too quickly. However, this comes with a lifelong increased risk of infection, so it's only done when necessary.

• Supportive Care and Monitoring

Lifelong follow-up is essential to monitor for complications like heart disease, diabetes, delayed puberty, and osteoporosis—all of which can result from iron overload or chronic anemia. Vaccinations and preventive antibiotics may also be part of care, especially for those whose spleen is removed.

Living With Thalassemia

While medical treatment forms the core of thalassemia management, daily self-care is critical in maintaining overall health and preventing complications. 

Here are the key ways individuals with ThalassemiaThalassemia can take care of themselves beyond the hospital setting:

• Stay Physically Active

Light to moderate physical activity can help boost energy levels and support cardiovascular health. However, overexertion should be avoided, especially during episodes of low hemoglobin. Activities should be tailored to individual stamina and medical advice.

• Prioritize a Balanced, Nutrient-Dense Diet

A well-rounded diet rich in calcium, vitamin D, and other essential nutrients supports bone health and immune function. Excess iron intake through food should generally be avoided unless advised otherwise, especially in those with iron overload.

• Avoid Iron Supplements Unless Prescribed

Individuals with Thalassemia should never take iron supplements alone, even if they feel fatigued. Iron supplementation is only appropriate in specific cases confirmed by blood tests, and self-medication can be harmful.

• Stay Hydrated and Well-Rested

Managing fatigue requires attention to sleep and hydration. Adequate rest helps the body cope with chronic anemia, and staying hydrated supports circulation and organ function.

• Manage Stress Effectively

Living with a chronic condition can be emotionally demanding. Mental health support—through therapy, peer groups, or stress-relief techniques like mindfulness and journaling—can significantly improve overall well-being.

• Maintain Regular Follow-Ups and Screenings

Sticking to scheduled appointments, even if you feel fine, helps you catch complications early. Keeping a personal health record and asking informed questions during visits empowers patients to be active partners in their care.

• Protect Against Infections

Simple habits like hand hygiene, avoiding contact with sick individuals, and staying current on routine vaccinations (as advised by the care team) help reduce infection risk—especially important for those with a compromised immune system or a removed spleen.

• Inform Dentists and Other Specialists

Always disclose your thalassemia status before undergoing dental procedures or non-routine medical treatments. Specific interventions may require pre-procedure planning due to anemia or infection risks.

Sterling hospital is your partner in better health across Gujarat

At sterling hospital, we provide the utmost care and comfort throughout your journey to a healthier life. If you are looking for the best hematologist in Ahmedabad - Gurukul, Ahmedabad - Sindhu Bhawan or in Rajkot, we got you covered.

Our hematology department is built with a team of the best hematologists in these regions to provide premium treatment and the best results. 

Contact Sterling Hospital to schedule a consultation and embark on a journey towards a healthier future.