Thalassemia – Symptoms and Causes
What You Need to Know About Thalassemia
Thalassemia is an inherited blood disorder that reduces hemoglobin levels in the body. Hemoglobin helps red blood cells carry oxygen throughout the body.
When levels are low, anemia and fatigue often result. Treatment varies based on severity. Mild forms might not require any treatment at all.
More severe cases typically need regular blood transfusions to maintain adequate hemoglobin levels.
People with thalassemia can manage fatigue through lifestyle choices. A nutritious diet and regular physical activity often help improve energy levels and overall well-being.
Symptoms
Signs of thalassemia vary depending on the type and severity. Common symptoms include:
- Fatigue
- Weakness
- Pale or yellowish skin
- Facial bone changes
- Slow growth rates
- Swelling in the abdomen
- Dark-colored urine
Some infants show symptoms at birth, while others develop them during their first two years. People with only one affected hemoglobin gene might not have any symptoms at all.
The severity of these symptoms often relates to how many genes are affected and what type of thalassemia is present.
When You Should Call a Doctor
If you notice any signs of thalassemia in your child, schedule a doctor’s appointment right away for an evaluation.
Don’t wait to see if symptoms improve on their own. Early diagnosis helps doctors create the best treatment plan for your child.
What Causes Thalassemia
Alpha-thalassemia happens when there are problems with genes that help make hemoglobin, the protein in red blood cells that carries oxygen through your body.
Four genes control alpha hemoglobin chain production, with two genes coming from each parent.
The severity depends on how many affected genes you inherit:
- Carrier Status: With one mutated gene, you won’t show symptoms but can pass the condition to children.
- Alpha-Thalassemia Trait: Having two mutated genes causes mild symptoms.
- Hemoglobin H Disease: Three mutated genes lead to moderate or severe symptoms.
When all four genes are mutated, it’s extremely serious. Most babies with this rare form don’t survive birth, and those who do typically need immediate and lifelong treatment, including blood transfusions.
In rare cases, stem cell transplants may be an option.
Beta-thalassemia Types
Beta-thalassemia occurs due to mutations in genes responsible for making the beta chains of hemoglobin. Unlike alpha-thalassemia, only two genes control beta chain production—one from each parent.
The severity varies based on how many genes are affected:
| Number of Mutated Genes | Condition Name | Severity |
|---|---|---|
| One | Beta-thalassemia minor | Mild symptoms |
| Two | Beta-thalassemia major (Cooley anemia) | Moderate to severe |
Children with beta-thalassemia major usually appear healthy at birth. However, they begin showing signs of the condition during their first two years of life as their hemoglobin production becomes increasingly impaired.
Some people with two mutated beta genes develop a less severe form called thalassemia intermedia, which falls between minor and major in terms of symptom severity.
Both forms of thalassemia are inherited conditions passed from parents to children. The mutations affect how well the body can produce working hemoglobin, which is essential for delivering oxygen to all parts of the body.
Risk Factors
Thalassemia risk increases with:
- Family History: The condition passes from parents to children through changed hemoglobin genes.
- Ethnic Background: People of Mediterranean, Southeast Asian, and African American descent have higher rates of thalassemia.
These factors can help determine who might need genetic counseling or testing for the blood disorder.
Complications
Moderate to severe thalassemia can lead to several health problems that need medical attention.
Iron Overload
The body can collect too much iron from the disease itself or from repeated blood transfusions. This excess iron may harm the:
- Heart
- Liver
- Endocrine system (which controls hormones)
Increased Risk of Infection
People with thalassemia face higher chances of getting infections. This risk is even greater for those who have had their spleen removed.
Bone Problems
In severe cases, the bone marrow can expand, causing:
- Widened bones
- Unusual facial and skull structure
- Thin, breakable bones that fracture easily
Spleen Enlargement
The spleen helps fight infections and remove damaged blood cells. In thalassemia, many red blood cells are destroyed, making the spleen work harder and grow larger. This can:
- Make anemia worse
- Reduce how long transfused blood cells last
- Sometimes require surgery to remove the spleen
Growth Issues
Anemia from thalassemia may:
- Slow down a child’s growth
- Delay the start of puberty
Heart Complications
Severe thalassemia can affect the heart, causing:
- Congestive heart failure
- Irregular heart rhythms
Prevention
Most people can’t prevent thalassemia. If you have thalassemia or carry the gene, speak with a genetic counselor before starting a family.
One option for having healthy children is assisted reproductive technology. This process includes:
- Egg retrieval from the mother
- Fertilization with sperm in a laboratory
- Genetic testing of embryos
- Implantation of only healthy embryos
This method allows parents who have thalassemia or carry the gene to have children without the genetic condition. The screening identifies embryos without genetic defects before they’re placed in the uterus.
