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New hope for genetic blood disorder victims

February 14, 2018

A series of clinical breakthroughs will revolutionize treatment of genetic blood disorders and increase the life expectancy of children diagnosed with sickle cell disease and thalassemia, a leading physician said.

Dr Rabi Hanna, MD, a specialist in paediatric haematology, oncology, and blood and bone marrow transplantation at Cleveland Clinic in the United States, says significant changes in treatment are likely in the next five to 10 years, including advances in bone marrow transplant techniques, gene therapies, and improved medications.

Currently, the most common treatments, including blood transfusions and medication, only relieve the symptoms of the disease rather than provide a cure, and many patients die young. Unless they can receive a bone marrow transplant, the average life expectancy of a child diagnosed with sickle cell disease is just 34 years.

“We really have to provide a cure, and the only cure available has been bone marrow transplantation, with the best outcome from donors who are matched family – brothers and sisters,” Dr Hanna said.

“In the past few years there have been big steps forward in haplo-transplants, using family members that are only half-matched, particularly a mum or dad with 50 percent of the child’s genes. That will give more children the chance of a cure, replacing bone marrow that is defective with new bone marrow that is healthy.”

New treatments will be particularly important in several Arab countries, where rates of both sickle cell disease and thalassemia are higher than in Europe or North America.

Both diseases cause abnormalities of the patient’s haemoglobin, the part of the red blood cells that transport oxygen.

“For thalassemia, the occurrence is much higher in the Middle East compared with the US, and for sickle cell disease it is slightly higher, especially in Saudi Arabia and the United Arab Emirates,” Dr Hanna said. “For thalassemia, one in every 12 in the United Arab Emirates is a carrier for the gene that causes the disease.”

Dr Hanna says trials of haplo-transplants are now in phase two and three, testing for efficacy and side-effects. Cleveland Clinic was part of an initial phased study, using modified chemotherapy to help prepare patients.

Gene therapy, using modified DNA to introduce a functional gene to replace the mutated gene causing the blood disorder, offers additional possibilities for a cure beyond bone marrow transplants.

“Early phase one studies looking at this area of gene therapy for thalassemia are very promising, although they are in the very early stages so it’s going to take time before we see them become available in a clinical setting,” said Dr Hanna.

“There are also several medications that have recently been developed for the treatment of sickle cell disease and thalassemia – two have been approved by the FDA, and others are pending. These aren’t a cure, but they can make the disease less severe.

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