Thalassemia

What Is Thalassemia?

Thalassemia is a genetic blood disorder that affects the body’s ability to produce normal hemoglobin. It is the protein within red blood cells that transports oxygen around the entire body. For those suffering from thalassemia, genetic mutations in certain globin genes cause a decrease or absence of hemoglobin production. This causes persistent anemia that ranges in severity from moderate to life-threatening.

Thalassemia is classified according to:

• The type of gene that is affected by beta or alpha

• The clinical severity: silent carrier, minor, intermediate, or major (transfusion-dependent)

Causes: How Thalassemia Develops

Hemoglobin is composed of two beta and two alpha globin chains. Thalassemia is a condition that occurs when there’s a genetic defect in the genes that make these chains:

• Alpha-thalassemia is a condition that occurs when alpha-globin genes are not present or deficient.

• Beta-thalassemia occurs when mutations alter the beta-globin gene.

The disorder is passed down through the generations in children who inherit mutations in genes that originate from both or one of their parents. Thalassemia’s severity depends on how many genes in the globin chain are affected.

Types of Thalassemia

1. Silent Carrier or Trait

• Sometimes, it is asymptomatic and presents as mild anemia

• The majority of treatments are not required.

• It is important to go through Genetic counseling in particular, prior to having a child.

2. Non-Transfusion Dependent Thalassemia (NTDT)

• Moderate anemia

• It is possible to require transfusions on occasion due to stress, illness, or pregnancy.

• It requires regular monitoring and treatment

3. Transfusion-Dependent Thalassemia (TDT)

• Also known as Thalassemia Major (or Cooley’s Anemia).

• Severe anemia developing in infancy

• Needs regularly scheduled blood transfusions as well as iron treatment with chelation to avoid iron overload

Symptoms: What to Look Out For

The symptoms of thalassemia vary based on severity and type:

Mild Forms (Trait or NTDT):

• Fatigue

• Pale skin

• Mild anemia

• The puberty process is delayed (in certain)

Severe Forms (TDT):

• Severe anemia (in the early years of childhood)

• A spleen or liver with an increased size

• Skin that is yellowish (jaundice)

• Facial bone changes

• Development is slow and slow in growth

• Risk of liver and heart complications caused by iron overdose

Iron overload can result not only due to blood transfusions but also from an increase in iron absorption within the intestines, so regular screening is crucial.

Diagnosis: How Thalassemia Is Confirmed

Thalassemia is diagnosed by the combination of

• Complete Blood Count (CBC)—detects anemia and red cells that are small.

• Hemoglobin Electrophoresis—detects abnormal hemoglobin variants

• A genetic test confirms that there are mutations in the globin gene

• Family History can provide important clues regarding the status of a carrier

Newborn screening programs can identify thalassemia before it becomes a problem, allowing prompt treatment.

Treatment Options for Thalassemia

The treatment is based on the severity and type of thalassemia.

Blood Transfusions

• Lifesaving for patients suffering from TDT

• The frequency can range between monthly and occasionally (in the NTDT)

• It helps to correct anemia and aid in healthy growth and progress.

Iron Chelation Therapy

• Essential to get rid of the excess iron that is accumulated from transfusions.

• Available as an injectable or oral medication

• Helps prevent complications such as liver damage, heart failure, damage, or hormonal imbalance

Stem Cell or Bone Marrow Transplantation

• The sole treatment option currently available

• The best results are seen when young patients have an identical sibling donor

• Needs careful evaluation and consultation with a specialist in transplantation

Supportive Care

• Regularly monitor for liver, heart, and endocrine function

• Assessments of growth and development

• Prevention of infections and vaccinations

• Genetic counseling to help families plan their families

Advances in Research and Outlook

Research ongoing in the field of gene treatment, or the editing of genes (like CRISPR), offers hope for a cure that is permanent in the near future. Clinical trials are in progress to study these strategies.

Thanks to improved medical care, children with thalassemia—especially those who receive timely treatment—can now live healthy, productive lives well into adulthood.

Why Early Diagnosis and Continuous Care Matter

If left untreated, the thalassemia condition can result in life-threatening complications. Early diagnosis, regular monitoring, and a multidisciplinary strategy can dramatically lower the chance of organ damage and enhance long-term outcomes.

Get Expert Thalassemia Care

Our center offers customized treatment for both adults and children with thalassemia of all kinds. From routine checks to more advanced treatments such as stem cell transplants, our team collaborates with transfusion specialists, hematologists, and genetic counselors who will assist you at each step of your journey.

Should you know that your child has been diagnosed with thalassemia, or you’re an individual who is planning to have a family, reach out to us for thorough advice and treatment planning.