Thalassemia in Children

Thalassemia is a genetic blood disorder that affects hemoglobin, the protein in red blood cells responsible for oxygen transport throughout the body. This condition often results in anemia, or not enough red blood cells.

Children with mild thalassemia may not need treatment, but those with more severe forms may require regular blood transfusions to maintain healthy red blood cell levels. For some children, a stem cell (bone marrow) transplant offers a potential cure.

Types of Thalassemia

Doctors classify the types of thalassemia based on the affected part of the hemoglobin, either alpha or beta proteins. Severity between types varies and is categorized as follows:

Thalassemia Minor: Mild or no symptoms; children generally do not require treatment.
Thalassemia Intermedia: Mild to severe anemia; blood transfusions may be needed when children are very sick or are not growing as expected.
Thalassemia Major: Requires ongoing treatment, including blood transfusions to ease anemia and chelation therapy to remove excess iron from the blood. Major subtypes include:
- Alpha Thalassemia Major: This is the most severe and rare form of the disease, when all four alpha genes are missing or damaged. If untreated with blood transfusions while in the womb, this condition leads to miscarriage, stillbirth or death shortly after birth. Babies who survive need significant medical care, including regular blood transfusions and chelation therapy.
- Beta Thalassemia Major (Cooley’s Anemia): This condition develops when both beta genes are nonfunctional. Severe anemia begins during a child’s first year, requiring regular blood transfusions and chelation therapy.

Causes and Risk Factors of Thalassemia

Thalassemia is caused by gene mutations that affect hemoglobin production. Hemoglobin is made of two types of proteins, alpha or beta, that can be affected by mutations and impact normal red blood cell function.

Risk factors for thalassemia include:

Family History: The disease is inherited from parents.
Ethnicity: People are more likely to develop the disease if they are of African, Mediterranean, or Southeast Asian descent.

Signs and Symptoms of Thalassemia

Signs and symptoms of thalassemia depend on the specific type of disease, among other factors. Symptoms may also arise due to treatment, including iron overload (buildup in the body) from blood transfusions.

Some children have symptoms, such as severe anemia at birth, while others develop symptoms later in life. The most severe form of alpha thalassemia often causes stillbirth.

Common symptoms include anemia and:

Dark urine
Excessive fatigue
Facial bone deformities
Pale skin
Poor appetite
Shortness of breath
Slow growth
Yellowing of eyes and skin (jaundice)

If symptoms are left untreated, thalassemia can lead to issues with the liver, heart, and spleen, as well as poor growth and development. Life-threatening complications, such as infection and heart failure, are common among affected children.

Diagnoses for Thalassemia

Thalassemia can be diagnosed during prenatal testing, before a baby is born, to determine its severity. Routine newborn screening may also detect the disorder.

To diagnose thalassemia in infants and older children, doctors review family history, symptoms, and conduct physical exams for signs of the disease.

Blood tests, such as a complete blood count (CBC) are used to diagnose thalassemia. The doctor may recommend additional tests to establish a prognosis and guide treatment.

Additional diagnostic tests include:

Genetic Testing: Determines the type of thalassemia.
Hemoglobin Electrophoresis: Measures hemoglobin types and levels.
Imaging Studies: Utilizes magnetic resonance imaging (MRI) to produce detailed pictures of the body.
Iron Studies: Important for beta thalassemia patients to check for iron deficiency anemia or iron overload.
Peripheral Smear: Examines blood cells under a microscope.

Treatment for Thalassemia

Treatment for thalassemia depends on a child’s age, thalassemia type, and disease severity. Early diagnosis and treatment often improve outcomes.

Children with mild forms of thalassemia usually do not require treatment, only monitoring. Children with moderate to severe thalassemia may need:

Blood transfusions every few weeks to restore red blood cell levels and ease symptoms.
Supplements, such as folic acid to help the body produce hemoglobin.
Surgery to remove gallbladder (cholecystectomy).

Stem cell (bone marrow) transplant is the only cure for thalassemia for eligible children who have well-matched donors. Other treatment options include gene therapy for beta thalassemia and other promising new advances in clinical trials.

Gene Therapy Treatment for Transfusion-Dependent Beta Thalassemia

Gene therapy is a newer, cutting-edge treatment that targets the genetic mutation causing beta thalassemia. Children’s Hospital Los Angeles offers two FDA-approved treatment options for children with this condition. Zynteglo™, for children aged four and older, and Casgevy® for children aged 12 and older, are treatment options for patients with transfusion-dependent beta thalassemia (Cooley’s anemia). Casgevy is the first cell-based gene therapy treatment using CRISPR-Cas9 gene editing technology, which modifies an organism's DNA, to be approved by the FDA. Using a patient’s own blood stem cells, these treatments add functional copies of the beta-globin gene so they can produce normal levels of hemoglobin, ultimately reducing or eliminating the need for transfusions.

CHLA is one of the few facilities in the nation offering Zynteglo and Casgevy treatment options and is a leading authority in pediatric gene therapy. Learn more about cell and gene therapy at CHLA.

Treatment Complications for Thalassemia

Blood transfusions add more iron to the body. Children who receive frequent blood transfusions can build up too much iron, which can lead to organ damage. Common symptoms of untreated iron overload include:

Abdominal pain
Changes in skin color (bronze, brown or gray)
Diabetes
Fatigue
Joint aches or pains
Shortness of breath
Swelling due to fluid buildup
Swollen liver
Weight loss

Doctors typically use blood tests and imaging studies to diagnose iron overload. They may also use a liver biopsy (removal of tissue for analysis) to check for iron buildup in the body’s organs.

Treatment includes chelation therapy, which uses special drugs that attach to metals remove the excess iron from organs in the body.

Thalassemia Care at Children’s Hospital Los Angeles

Our Red Blood Cell Disorders Program is one of California’s largest centers for erythrocyte (red blood cell) disorders and one of the few nationwide with federal funding for thalassemia care. As a national leader in pediatric gene therapy, we provide access to internationally recognized specialists and innovative treatments. Learn more about the thalassemia treatment options available through our Red Blood Cell Disorders Program.