Why Do People Develop Thalassemia? Understanding the Genetic Blood Disorder

Thalassemia is a group of inherited blood disorders characterized by abnormal hemoglobin production in red blood cells. This condition arises when mutations occur in the genes responsible for producing the alpha or beta globin chains—essential components of hemoglobin. Over 200 different genetic mutations have been identified that can disrupt normal hemoglobin synthesis, leading to various forms of thalassemia.

How Genetics Play a Role in Thalassemia

The development of thalassemia is closely tied to heredity. Individuals inherit the defective genes from one or both parents. If only one parent carries the mutated gene, the person may become a carrier (thalassemia trait) without showing severe symptoms. However, when both parents pass on the faulty gene, the child is at risk of developing moderate to severe forms of the disorder, such as beta-thalassemia major or alpha-thalassemia major.

Common Symptoms and Health Complications

People affected by thalassemia typically experience symptoms related to chronic anemia, including fatigue, weakness, pale skin, and shortness of breath. These arise because the body cannot produce enough healthy red blood cells to carry oxygen efficiently.

In more advanced cases, patients may develop additional complications. An enlarged spleen (splenomegaly) is common due to the organ working overtime to filter out damaged red blood cells. Some individuals also face an increased risk of developing gallstones—a condition linked to the breakdown of red blood cells (hemolysis).

Risks During Pregnancy and Fetal Development

Severe forms of thalassemia, particularly alpha-thalassemia major, can have devastating consequences during pregnancy. Affected fetuses may suffer from severe anemia in the womb, leading to heart failure, fluid buildup (hydrops fetalis), and often result in miscarriage or stillbirth if not carefully monitored and treated.

Prenatal screening and genetic counseling are strongly recommended for couples with a family history of thalassemia, especially in regions where the condition is more prevalent, such as the Mediterranean, Middle East, South Asia, and Africa.

Diagnosis and Management

Early diagnosis through blood tests—including complete blood count (CBC), hemoglobin electrophoresis, and DNA analysis—can help identify carriers and affected individuals. While there is no universal cure, treatment options like regular blood transfusions, iron chelation therapy, and in some cases, stem cell transplantation, can significantly improve quality of life.

With advances in medical science and growing awareness, many people with thalassemia now live longer, healthier lives—especially when diagnosed early and managed properly.