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At least two children with thalassemia from Abu Dhabi have had their bone marrow transplanted in the US through a new treatment method that uses less-toxic protocols and blood from the umbilical cord, spelling hope to hundreds of others as newer treatment methods emerge.
Doctors from the Children Hospital of Pittsburgh, University of Pittsburgh Medical Centre (UPMC), did the procedure on two Arab children aged nine and 14 from Abu Dhabi nearly three years ago.
Thalassemia is one of the most common inherited blood disorders in the UAE. It is characterised by abnormal hemoglobin production. Although efforts have been made to reduce the prevalence of thalassemia in the country, the carrier population continues to remain high.
Currently, bone marrow transplant (BMT) is the only treatment that offers a potential cure for thalassemia. BMT relies on chemo or radiation therapy to eliminate thalassemia-producing cells in the marrow and replaces them with healthy donor cells from bone marrow or another stem cell source.
Paul Szabolcs, chief of blood and marrow transplantation and cellular therapies at the Children Hospital of Pittsburgh of UPMC, developed the less-toxic protocols called reduced-intensity conditioning (RIC) to make not only BMT, but umbilical cord blood transplantation (UCBT), a safe and curative option for children.
"The children have been cured for life," said the doctor.
His RIC protocol starts with about two weeks of a very mild chemotherapy agent taken by mouth or through a gastronomy tube to desensitise the body along with antibody infusions to reduce the likelihood of rejection.
It is followed by two different higher-dose intravenous chemotherapy drugs distributed over three days. Low-dose radiation will replace one of the chemotherapy drugs in a soon to open new protocol in older patients.
"The intent of chemotherapy is to create space, reduce abnormal blood production, and to minimise the patient's own immune system to reject the healthy cells of the BMT donor," he explained.
He also said that early referral to a transplant centre is recommended, as transplantation has better outcomes in younger patients.
The treatment is likely to be introduced in the UAE soon as all testing in one place. "We are waiting to open up a few rare disease centres in the UAE that will provide these facilities," said Dr Paul.
At least 8.5 per cent of UAE's population according to UAE Ministry of Health and Prevention are thalassemia minor or carry the gene but are unaware of this condition.
At the Arab Health Congress held earlier this year, experts discussed similar methods such as improved bone marrow transplants, gene therapies and new medications and how they will mean longer, healthier lives for Sickle Cell Disease and Thalassemia patients.
A series of clinical breakthroughs will revolutionise treatment of genetic blood disorders and increase the life expectancy of children diagnosed with sickle cell disease and thalassemia, Dr Rabi Hanna, a specialist in pediatric hematology, oncology, and blood and bone marrow transplantation at Cleveland Clinic in the United States, said adding that significant changes in treatment are likely in the next five to 10 years.
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 will 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 per cent 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 hemoglobin, 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 UAE," Dr Hanna said.
"For thalassemia, one in every 12 in the UAE is a carrier of the gene that causes the disease."
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.
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