Dr. Vasili Berdoukas

The Thalassemia Doctor

Feature by Mavis Manus

When Consul General Elizabeth Fotiadou recently took on the reins of the Greek consulate in Los Angeles she not only brought ideas and projects but the capability, energy and imagination to carry them out. Los Angeles has also benefitted from the knowledge and expertise of her husband, Dr. Vasili Berdoukas, who is now consulting at the Children's Hospital.

Berdoukas is a man with a mission. And that is to reduce to nil the number of babies born with the dreaded disease of thalassemia major.

"Those at risk of having a child with thalassemia," he explains, "are couples who originate from the belt of the world stretching from Spain to New Guinea, and Greece comes smack in the middle of that." While even today there is no cure, enormous strides have been made to control and treat the disease. From a life expectancy of less than 10 years, now a normal life span is possible. Before, treatment required blood transfusions approximately each month as well as 5-7 infusions though needles each week; today treatment may soon be reduced to one or two pills a day. Berdoukas is a world specialist in the disease and in the forefront of its treatment.

Born in Sydney in 1946, his youthful looks belie his 63 years. His grandparents, who came from Plomari in Mytilini ("best ouzo in Greece"), emigrated to Australia in the early 1920's. To please his family, Berdoukas entered law school but after two years he withdrew and began the study of what had always been his passion - medicine. "After a year of practicing adult medicine, I moved into pediatrics and became interested in blood diseases. It was there I saw first hand the terrible suffering that thalassemia was causing." In London, an Irish doctor, nicknamed 'Queen of Thalassemia', Bernadette Modell, was doing important research with the strong support of the British Health system, and he was able to work with her for a year. With so many Cypriots living in the UK, there were many patients with the disease.

In Greece, where Berdoukas then worked for a year, he found that 290 babies a year were born with the disease. One in 12 people in the country are carriers of the disease; that is, 8% of the population. If two carriers marry there is a one in four chance of producing a child with thalassemia major, a serious blood disease which at that time had a poor prognosis. Two out of the four will be carriers and one will be clear. The attitude of the Greek government was "We can't afford to treat the disease; we are going to prevent the disease."

"The situation changed dramatically in 1976, once we were able to do prenatal diagnosis and give the parents the choice whether to continue with the pregnancy." Even more effective, doctors carried out population screening which tested couples to see if they were carriers. The result was that from 290 babies born each year with thalassemia, the numbers are now reduced to two or three. Greece and Italy are now the two most successful countries in the world for thalassemia treatment and are also in the forefront of new technology. The UK is another leader in this field, thanks to its public health scheme. British doctors involved in the disease were astonished that such massive strides could be achieved in a small country like Greece.

Back in Sydney, Berdoukas established a pre-natal testing service, though he had to approach things in a different manner. In Australia there is a stigma on those suffering from thalassemia, so he worked with obstetricians and gynocologists, suggesting they do a simple blood test on everybody to find the carriers. Patients of Greek origin showed the same ratio as in Greece - 8% of those tested were carriers. "We did a study with AHEPA on people from the island of Kythera - the percentage was the same, but among those from Kastelorizo the percentage was even higher - 10%.

The part of the world that forms the thalassemia belt is also called the malaria belt, and the carriers of thalassemia were protected from dying of malaria in the first years of life. "In the early days pretty much everyone there got malaria as a young child, but the thalassemia carriers, we think, were protected from developing brain malaria and thus survived." The disease was first known in the U.S. as Cooley's Anemia, but then because most of the doctor's patients came from a place near the Mediterranean Sea - thalassa - its present name evolved.

Various areas have tendencies for certain diseases. Sickle cell anemia occurs not only among individuals of African origin but among people of Latin origin and Greek. It's not uncommon for some to inherit both thalassemia major and sickle cell anemia.

One of the side effects of multiple blood transfusions is that the body retains iron which works its way into other organs, particularly the liver and heart. In the late 60's a medicine became available that removed the iron but with a high discomfort level - the patient had a needle inserted under the skin which pumped out the iron 10-12 hours a day. In an enormous advance, a Canadian drug company has come out with a pill that will do the same thing.

This company has retained Berdoukas, and more than half the year he travels to Greece, Australia or Asia where he gives papers, consults, holds seminars for doctors doing haemoglobin field work. "I usually give a paper and we have breakout-out sessions to try and encourage the doctors to speak up, ask questions and share problems," he said.

One of the many remarkable things research is working on: If a woman and her partner are discovered to be carriers, with in vitro fertilisation (IVF) cells can be taken from the developing embryos, a healthy one is selected, implanted and the diseased ones discarded. Also, if a child of that couple has thalassemia doctors can pick out an embryo that is compatible with that child and implant that. Subsequently once the baby is born, a bone marrow or stem cell transplant from the placenta of the newborn can be performed--and effect a cure.

Sloan-Kettering Hospital in New York has been funded to do a gene therapy study in which a patient's stem cells will be injected with genes that will then function properly, multiply those cells and then return them to the patient. The same kind of work is now being done in Thessaloniki.

Because Bardoukas is Australian he cannot yet work officially at Childrens Hospital, but he is permitted to accompany the doctors on their rounds, go to clinics, attend lectures and discuss problems. He'd like to be more hands-on and has applied for permission under a federal licensing law which allows international medical experts to work here. "All I want to do is examine patients and give my opinion as to their treatment. I don't care about the income."

Berdoukas concludes, "The important message to get to people of Greek origin in California is: "Get a simple test before you plan to have children!" He has the support of AHEPA here in Los Angeles as well as the Hellenic American Council, both of whom will most probably be arranging meetings to explain the ramifications of thalassemia. to the young people who plan to become parents in the future.