New hope for people with thalassemia, what is the new treatment?

A leading medical expert in the treatment of thalassemia says 2018 could revolutionize the treatment of this debilitating genetic disorder that affects the blood. Dr. Rabih Hanna, a pediatric hematologist, oncologist and bone marrow transplant specialist at Cleveland Clinic in the US, said a series of recent medical advances in the field of genetic therapy mean that a treatment for thalassemia is “almost within reach.”

Dr. Hanna's statement came on the occasion of the International Thalassemia Day, which falls on the eighth of May of each year, in which he confirmed, based on recently published research data, that the treatment "may have become present", considering that genetic treatment has for years indicated the possibility of creating the ability to cure from This genetic disorder, especially with the achievement of vast leaps in the fields of basic science, and added: “We see that the first research projects in this field are evolving into viable treatment methods, and in the past few months we have witnessed positive research data published from experiments in human subjects, where The gene therapy works, the results are permanent, and patients do not have any frightening side effects.” Dr. Hanna expressed his hope that “we are realistically looking forward to moving forward with an effective therapeutic framework in the foreseeable future.”

Thalassemia is a genetic disease that causes abnormalities in the hemoglobin in the blood, which is the part of red blood cells responsible for transporting oxygen. Its effects range from anemia, which causes fatigue and pale skin, to bone problems and an enlarged spleen. Analyzes of the global economic burden of thalassemia estimate that there are about 280 million people infected with the disease worldwide, including about 439,000 people suffering from a severe form of thalassemia, and the disease resulted in the deaths of 16,800 patients in 2015.

Thalassemia is common in societies living in the Middle East, the Mediterranean, South Asia and Africa, and is often included in pre-marital genetic testing in some of these societies. The most common treatment for severe cases is regular blood transfusions to relieve symptoms, which lasts for a long time. life and have side effects. While the only curative treatment currently available for thalassemia is a bone marrow transplant, which can be performed on a small percentage of patients.

In this context, genetic therapy opens the door to new possibilities for treating and curing the disease, by changing the parts of the genetic code that cause it. Thalassemia patients, in one of the current treatment experiments taking place in six specialized centers around the world, had immature stem cells that were extracted from their bone marrow. Patients' marrow from diseased genes through chemotherapy, before the genetically modified cells are reintroduced into the bloodstream to find their way back to the bone marrow, where they matured and turned into red blood cells that produce healthy hemoglobin.

The results, published in the New England Journal of Medicine, showed that the treatment significantly reduced the number of blood transfusions each patient needed. Patients had been monitored for a period that last April amounted to 42 months since the start of the genetic treatment, as the number of blood transfusions during that period decreased by up to 74 percent in severe disease cases, while many patients with less severe cases did not return Need blood transfusions.

Dr. Hanna stressed that these medical developments will take some time to become available as treatments, but he stressed that the developments are at a point where “conquests in research turn into conquests in treatment,” considering that this “gives real hope to many patients who suffer from thalassemia today.” .

On the other hand, another promising technology that is now moving into human trials is CRISPR, or regularly spaced alternating cluster repeats, a tool that can modify DNA sequences and alter the function of genes. Based on a defense mechanism found in bacteria, the CRISPR tool inserts itself into the nucleus of the gene and cuts the faulty segment of DNA, rather than replacing a healthy one with a diseased one.

The biotechnology company CRISPR Therapeutics recently obtained approval from the relevant authorities in Europe to use the gene-editing technology in a trial to treat thalassemia, in which cells will be modified in the laboratory and the modified genes are returned to the body through blood transfusion. Another separate program at Stanford University is proposing a trial to treat sickle cell disease, a genetic disorder that shares many similarities with thalassemia, in which genetic modifications are made inside the body.

Dr. Hanna stressed that the main treatment currently available, which is blood transfusion, is “just a short-term solution, especially for people with severe disease,” stressing that the blood transfusions themselves “lead over time to health problems, given that an excess of iron in the blood leads to The occurrence of heart and liver diseases, infections and osteoporosis, which makes these side effects prolong the treatment period.” He concluded that the success in reducing the blood transfusions needed to maintain the appropriate number of red blood cells “is a positive outcome for the patient,” and added: “The idea that there are a number of new treatments on the horizon, not a single treatment, makes us hope to obtain alternatives for cases that In which one treatment method is ineffective.”