Rare Disease Spotlight Series: Thalassemia


Thalassemia is a genetic condition more prevalent in individuals of certain ancestries that can result in anemia. People with thalassemia have mutations in the cells that create hemoglobin. Hemoglobin is needed to store and carry oxygen in the red blood cells, leaving those with this condition fatigued. Mild thalassemia may be managed with life-style changes but severe forms may require blood transfusions or stem cell replacement therapy and can impact life expectancy.

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Types of Thalassemia

There are two types of thalassemia: alpha and beta. The type that a person has depends on which proteins in the hemoglobin DNA are affected by mutation. The severity of the disease and the symptoms a person experiences is determined by the type they have inherited.

Alpha Thalassemia

Two genes from each parent, for a total of four genes, are required to make the alpha globin protein chains. The chart below shows how missing any number of the genes leads to alpha thalassemia.

Missing Alpha GenesDisorderAnemiaOther Names
1Silent CarrierNoneAlpha thalassemia – 2 trait, alpha thalassemia minima
2TraitMildAlpha thalassemia – 1 trait, alpha thalassemia minor
3Hemoglobin HModerateHemoglobin H disease
4MajorFatalHydrops fetalis with Hemoglobin Barts

Beta Thalassemia

One gene from each parent is inherited to form the beta hemoglobin chain. The chart below shows how the affected genes cause various forms of beta thalassemia.

Affected Beta GenesDisorderAnemiaOther Names
1Silent CarrierMildBeta thalassemia minor
2MajorSevereCooley’s Anemia

Signs and Symptoms of Thalassemia

thalessemia causes fatigue

Individuals with thalassemia have symptoms that vary in severity depending on the type they have inherited. Some persons may be silent carriers with no symptoms but others may have mild symptoms that minimally impact their life. Still others may have symptoms severe enough to require life-saving interventional treatments.

Symptoms can include:

  • Chronic Fatigue
  • Weakness
  • Pale or yellowish skin
  • Facial bone deformities
  • Slow growth
  • Abdominal swelling
  • Dark urine
  • Anemia
  • Delayed puberty
  • Poor appetite
  • Enlarged liver, heart, and/or spleen

Diagnosing Thalassemia


Thalassemia is typically diagnosed within a child’s first two years of life by their pediatrician.  As thalassemia is a genetic disorder, many parents will be aware of the risk and their health care providers will know the symptoms for which they need to be watchful. A complete blood count (CBC) will measure the hemoglobin and size and quantity of red blood cells. A type of test called a reticulocyte count can determine if the bone marrow is producing enough new red blood cells. Iron studies can determine if the cause of anemia is due to iron deficiency. Genetic testing may be used especially in cases of a family history of alpha thalassemia. Sometimes people choose genetic testing in family planning. Besides that, prenatal testing is possible when there is an identified family-history risk.


Treatment for Thalassemia

Treatment depends on the type and severity of the symptoms. Mild thalassemia may require no treatment or a patient may require a blood transfusion a few times during their lifetime. Moderate to severe thalassemia could require regular blood transfusions as often as every few weeks. This procedure can lead to the build up of iron, therefore patients would need to be treated with medications for iron overload. Some hospitals are now treating thalassemia with stem cell transplants. This procedure is capable of eliminating the need for transfusions in some patients. Most patients with thalassemia will be able to live full lives, but in severe cases life expectancy could be reduced.

Author T.J. Madden for The Unchargeables

About Author T.J. Madden

T.J. is a contributing author for The Unchargeables, manages The Unchargeables Twitter feed and is the newly appointed administrator for the Caregivers Support Group. She describes herself as a Reader, Writer, Baker, Teacher, Chicken Soup Maker, and Fighter for all Things Healthier, Stronger, Kinder, and Better than Yesterday.