Published: 18 Jun 2025

ICD9: 283.0      ICD10: D59.9      ICD11: 3A50

Hemolytic Anemia (Thalassemia)

Thalassemia is a group of inherited blood disorders characterized by decreased or absent production of normal hemoglobin.
This leads to hemolytic anemia, meaning that red blood cells are destroyed faster than the bone marrow can replace them.

Here's a breakdown:

Hemoglobin: Hemoglobin is a protein in red blood cells that carries oxygen from the lungs to the body's tissues. It consists of two main types of protein chains: alpha-globin and beta-globin.

Thalassemia and Hemoglobin Production: In thalassemia, genetic mutations affect the production of either alpha-globin chains (alpha-thalassemia) or beta-globin chains (beta-thalassemia). The degree of deficiency dictates the severity of the anemia.

Hemolytic Anemia in Thalassemia: When not enough functional hemoglobin is produced, red blood cells become fragile and easily damaged, leading to their premature destruction (hemolysis). This destruction occurs primarily in the spleen. This rapid destruction results in anemia.

Types of Thalassemia:

Thalassemia is classified based on which globin chain is affected and the severity of the deficiency:

Alpha-Thalassemia: Involves a deficiency in alpha-globin chain production. There are four genes responsible for producing alpha-globin, so the severity depends on how many genes are affected.
Silent Carrier: One gene affected. Usually no symptoms.
Alpha-Thalassemia Trait (Alpha-Thalassemia Minor): Two genes affected. Mild anemia.
Hemoglobin H Disease: Three genes affected. Moderate to severe anemia, often requiring transfusions.
Alpha-Thalassemia Major (Hydrops Fetalis): All four genes affected. Usually fatal before or shortly after birth because the fetus cannot produce functional hemoglobin.

Beta-Thalassemia: Involves a deficiency in beta-globin chain production. There are two genes responsible for producing beta-globin.
Beta-Thalassemia Minor (Beta-Thalassemia Trait): One gene affected. Mild anemia, often asymptomatic.
Beta-Thalassemia Intermedia: Both genes affected, but with some beta-globin production. Variable severity, may require occasional transfusions.
Beta-Thalassemia Major (Cooley's Anemia): Both genes severely affected or absent. Severe anemia requiring regular blood transfusions throughout life. Without treatment, it is often fatal in childhood.

Symptoms of Thalassemia:

Symptoms vary widely depending on the type and severity of the condition. They can include:

Anemia-related symptoms:
Fatigue
Weakness
Pale skin
Shortness of breath
Dizziness
Other symptoms:
Bone problems (e.g., bone pain, deformities)
Enlarged spleen (splenomegaly)
Enlarged liver (hepatomegaly)
Jaundice (yellowing of the skin and eyes)
Delayed growth and development (especially in severe cases)
Dark urine
Facial bone abnormalities (in severe cases)
Heart problems (due to chronic anemia)

Diagnosis:

Thalassemia is usually diagnosed through:

Complete Blood Count (CBC): Shows low hemoglobin levels and abnormal red blood cell indices.
Hemoglobin Electrophoresis: Identifies the types and proportions of hemoglobin present, helping to diagnose the specific type of thalassemia.
Genetic Testing: Confirms the diagnosis and identifies the specific genetic mutations.
Peripheral Blood Smear: Microscopic examination of blood cells can reveal characteristic abnormalities.

Treatment:

Treatment depends on the type and severity of thalassemia. Options include:

Blood Transfusions: Regular transfusions are essential for managing severe thalassemia major.
Chelation Therapy: Used to remove excess iron from the body that accumulates from frequent blood transfusions. Iron overload can damage organs like the heart and liver. Chelation medications can be taken orally or by injection.
Folic Acid Supplements: Help support red blood cell production.
Bone Marrow Transplant (Hematopoietic Stem Cell Transplant): The only potential cure for thalassemia, but it is a high-risk procedure and not suitable for all patients.
Gene Therapy: Emerging therapies are showing promise in correcting the underlying genetic defect.
Splenectomy: Removal of the spleen may be necessary in some cases, especially if it is excessively enlarged or destroying too many red blood cells.

Important Considerations:

Genetic Counseling: Important for individuals with thalassemia or who are carriers to understand the risks of passing the condition on to their children.
Regular Monitoring: Individuals with thalassemia need regular medical follow-up to monitor their condition and manage complications.
Complications: Untreated or poorly managed thalassemia can lead to serious complications, including heart failure, liver disease, diabetes, and osteoporosis.

In summary, thalassemia is a group of inherited blood disorders that result in reduced or absent production of normal hemoglobin, leading to hemolytic anemia. The severity of the condition varies widely, and treatment is tailored to the individual's needs. While there is currently no universal cure (except for bone marrow transplant), treatments like blood transfusions and chelation therapy can significantly improve quality of life and survival. Emerging therapies like gene therapy hold promise for future cures.