Understanding Thalassemia: Causes, Symptoms, and What You Should Know

Thalassemia is a group of inherited blood disorders that affect the body’s ability to produce normal hemoglobin—the protein in red blood cells responsible for carrying oxygen. While some forms of thalassemia are mild, others can lead to severe anemia, growth issues, organ damage, and the need for lifelong medical care.

With increasing awareness and advances in treatment, early diagnosis and informed management can greatly improve quality of life for individuals living with thalassemia.

What Is Thalassemia?

Thalassemia is caused by mutations in the genes that code for hemoglobin chains. Depending on which part of the hemoglobin molecule is affected, the disorder is classified as:

• Alpha thalassemia: affects the alpha-globin chains

• Beta thalassemia: affects the beta-globin chains

The severity of the condition depends on how many genes are mutated:

• Trait/Minor: usually asymptomatic or mild anemia

• Intermedia: moderate anemia with variable symptoms

• Major (Cooley’s anemia): severe, transfusion-dependent anemia

How Is Thalassemia Inherited?

Thalassemia follows an autosomal recessive inheritance pattern. A child must inherit a faulty gene from both parents to develop a more serious form of the disease. If both parents are carriers (thalassemia trait), there is a 25% chance with each pregnancy that the child will have thalassemia major.

This makes carrier screening and genetic counseling essential—especially in regions where thalassemia is more common, such as South Asia, the Middle East, and the Mediterranean.

Symptoms of Thalassemia

Symptoms vary depending on the type and severity of the disorder. Common signs include:

• Chronic fatigue and weakness

• Pale or yellowish skin (jaundice)

• Poor appetite

• Bone deformities, especially in the face

• Slow growth and delayed puberty

• Enlarged spleen (splenomegaly)

• Dark urine

In infants with thalassemia major, symptoms often appear within the first year of life.

How Is Thalassemia Diagnosed?

Thalassemia is usually diagnosed through:

• Complete blood count (CBC) – may show microcytic anemia

• Hemoglobin electrophoresis – detects abnormal hemoglobin types

• DNA analysis – confirms specific mutations

• Prenatal testing – via chorionic villus sampling or amniocentesis if both parents are carriers

Early diagnosis is key to initiating appropriate treatment and preventing complications.

Treatment and Management

There is no universal cure for thalassemia, but the condition is manageable with proper medical care. Treatment options include:

• Regular blood transfusions – to maintain healthy hemoglobin levels

• Iron chelation therapy – to prevent iron overload from transfusions

• Folic acid supplements – to support red blood cell production

• Bone marrow or stem cell transplantation – the only curative therapy, typically for severe cases

The Role of Cord Blood in Thalassemia

Umbilical cord blood, rich in hematopoietic stem cells, has shown promise as a source for stem cell transplantation in thalassemia major. For eligible children with a matched sibling donor, cord blood transplantation has been successful in achieving long-term disease-free survival.

Families with a history of thalassemia may consider cord blood banking—particularly when a sibling is affected and a new baby is expected. In some cases, the newborn’s cord blood may be a match and serve as a potential cure through hematopoietic stem cell transplant.

However, not all patients are eligible for transplantation, and success depends on several factors including donor match, age at transplant, and disease severity.

Living with Thalassemia

With regular medical care and monitoring, many individuals with thalassemia live well into adulthood. Key strategies include:

• Regular follow-ups with a hematologist

• Monitoring for iron overload and organ function

• Vaccinations and infection prevention

• Psychosocial support and community engagement

Increased awareness, better treatment protocols, and early screening have drastically improved outcomes for thalassemia patients in the last two decades.

Sources

1. Cappellini MD, et al. Guidelines for the Management of Transfusion Dependent Thalassemia (TDT). Thalassaemia International Federation, 2021.

2. Vichinsky EP. Clinical applications of hemoglobinopathies. Hematology Am Soc Hematol Educ Program. 2019.

3. CDC – Thalassemia Overview

   https://www.cdc.gov/ncbddd/thalassemia/facts.html

4. Angelucci E, et al. Hematopoietic Stem Cell Transplantation in Thalassemia. Hematology, 2017.

5. Locatelli F, et al. Cord blood transplantation in thalassemia major. Blood Cells Mol Dis. 2012.