Gene Therapy Reduces Need for Transfusions in Patients with Beta-Thalassemia

According to a recent article, a study shows that treatment with gene therapy reduces the need for patients with non-β0/ β0 genotype Beta-thalassemia (β-thalassemia)to get transfusions.

Beta-thalassemia (β-thalassemia)

Beta thalassemia is a blood disorder characterized by reduced levels of hemoglobin. Hemoglobin is the iron-rich, oxygen-carrying protein found in red blood cells. A main function of red blood cells is carrying oxygen all throughout the body. There are three types of beta-thalassemia, which indicate severity:

Those with beta-thalassemia minor often are asymptomatic or experience very minor symptoms while those with major often require lifelong medical care to mitigate symptoms. Those with intermediate fall in the middle. While relatively rare in the United States, beta-thalassemia is one of the most common autosomal recessive disorders in the world – and has a 1 in 100,000 incidence rate.

Symptoms:

The characteristic symptom of beta-thalassemia is anemia. Further symptoms include:

  • Fatigue
  • Weakness
  • Shortness of breath
  • Dizziness
  • Headaches
  • Blood clots
  • Pallor
  • Splenomegaly

Those with beta-thalassemia major and intermedia may develop excess levels of iron in the body (iron overload), which primarily results from repeated blood transfusions. Iron overload can cause a variety of symptoms affecting multiple systems of the body but can be treated by specific medications.

The Study

The phase III study involved 23 patients who underwent myeloablation with busulfan and also received beta-cel intravenously (in their veins). On average, the patients were studied for around 30 months.

The endpoint of the study was determined to be when the patient no longer needed transfusions and had a weighted average hemoglobin level of greater than or equal to 9 grams per deciliter without having had any red-cell transfusions for more than or 12 months.

Results

The Beta-cel gene therapy used with the patients resulted in 20 out of the 22 patients who were able to live transfusion-free. This included patients who were under 12-years-old. Furthermore, the average hemoglobin level observed in patients averaged to be 11.7 grams per deciliter. Overall, the treatment concluded that the beta-cel treatment leads to sustained HbAT87Q levels and a total hemoglobin level high enough for patients with non-β0/β0 genotype β-thalassemia not to need transfusions.

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