Thalassemia: Symptoms, Causes, & Treatment

November 4, 2020
Janelle Thomas MSN, RN
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Hearing that your child has been diagnosed with a serious medical condition brings along many feelings — overwhelm, denial, anger, confusion. You may be wondering how to move forward. What’s the best form of treatment? Even if the ailment sounds somewhat familiar (such as is often the case with inherited disorders like thalassemia) you may be feeling adrift. Understanding the condition, recognizing symptoms, and being aware of the best forms of treatment can give you a sense of control over the situation.

What is thalassemia?

Thalassemia is an inherited blood disorder that causes your body to fail to create enough hemoglobin — a protein in red blood cells that carries oxygen from the lungs to the rest of the body’s tissues and cells. As a result, you’re left feeling fatigued and anemic. In the most severe cases, the condition may cause organ damage and even death.

Thalassemia is usually diagnosed during childhood, as symptoms first start to appear. However, in milder cases, a person may only find out while getting a routine blood test or undergoing testing for another reason.

Causes of Thalassemia

Thalassemia is caused by mutations in the cells that make hemoglobin, known as alpha-globin and beta-globin genes. If a person has only one mutated gene, they will have no signs or symptoms of thalassemia. Two mutated genes will result in the person experiencing mild symptoms. Three mutated genes means the condition is moderate to severe.

If you only have one mutated gene, you are a carrier and can still pass it on to your offspring. If you have any of the other modalities, your child will also likely suffer from the condition, and the best way to predict its severity is to undergo prenatal screening.

Symptoms of Thalassemia

The symptoms of thalassemia may vary from one person to the next, as well as on the severity of the illness. The most common ones include:

  • Shortness of breath
  • Weakness
  • Extreme tiredness
  • Paleness or yellowish skin
  • Swollen abdomen
  • Dark urine
  • Facial bone deformities
  • Slow growth

Treatment for Thalassemia

The best form of treatment depends on the severity of the condition. For those with mild thalassemia, treatment may not be necessary. However, on the other end of the spectrum, your physician may recommend any of the following:

Regular Blood Transfusions

The frequency of these transfusions could be as often as every few weeks. If this is the case, medical providers will monitor iron levels, as so many transfusions could result in an iron buildup, which would be harmful to vital organs.

Chelation Therapy

If the blood transfusions do result in an iron buildup, the same can be removed through a process called chelation therapy. This involves using medications that are administered intravenously or orally. The drugs then attach to the excess iron, which is then excreted from the body through urine.

Stem Cell Transplants

Your child’s healthcare provider may recommend harvesting stem cells from bone marrow from a compatible donor. In most cases, siblings are a good match. The benefit of this type of treatment is avoiding frequent blood transfusions and its risks.

Being Mindful of Nutrition

Provide your child with nutritionally dense foods — especially those with calcium, vitamin D, and B vitamins. This will help keep bones healthy and provide energy. Do not give them a multivitamin, since these contain iron, which may be counterintuitive if your child is getting regular blood transfusions.

Contact Care Options for Kids for Home Health Care in Florida

It can be hard to balance your time between work, home, and caring for a child. That’s why our team of professionals at Care Options for Kids is here to help.

Our home health care services offer support in the comfort of your home. We refer loving and competent nurses to provide customized care for families — from a few hours a day to around-the-clock supervision. Contact us directly to speak with a home health care professional or request a free in-home assessment. Together we can determine the best plan of action to keep your loved ones happy and healthy.

If you or a loved one are considering Pediatric Home Health Care Services in Florida, contact the caring staff at Care Options for Kids. Call today at (888) 592-5855.