UAE Genetic Diseases Association runs series of Thalassemia screening campaigns

May 26, 2010

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UAE Genetic Disease Association (UAEGDA), the sole non-profit genetic organization in the UAE, has begun a month-long screening campaign to bring attention to the presence of thalassemia in the UAE following the commemoration of World Thalassemia Day earlier this month.

According to the Genetic and Thalassemia Centre in Dubai, one in 12 persons in the UAE is said to be a carrier of the disease.

The latest UAEGDA campaign is touring locations throughout the UAE with over 500 volunteers from various institutions assisting in the effort. Participants are working under the mission of educating the population about common genetic disorders (such as Thalassemia, Sickle Cell Anemia, G6PD Deficiency & Diabetes) and informing them about the free screening and counselling services provided by the UAEGDA. Different venues will be targeted throughout the month of May including Deira City Centre, 11 different Emarat and ADNOC fuel stations across the UAE, and various colleges and corporate houses.

Nearly 5,000 individuals were tested for the disease in the last year, according to UAEGDA officials, and an expansion of the group’s capacity has attracted partners throughout the country, including groups like the UAE Marriage Fund—a partner in UAEGDA’s current campaign.

The benefits of screening tests lay not only on an early detection of the disorder, but also preventing the birth of children born with thalassemia major. As in the case of all hereditary recessive diseases, there is a 25% chance for the child of thalassemia-carrier parents to become affected, another 50% chance of which will be carriers, while the rest go on seemingly unaffected.

“Thalassemia is a major public health issue in the UAE, which affects so many families at social, medical, financial and psychological levels,” says Dr. Maryam Matar, Founder & Chairman of UAEGDA. “Blood screenings campaigns in general are the best way to help reduce the presence of hereditary diseases in the country. Certain diseases like thalassemia and diabetes have especially high prevalence in the UAE, and this is the first step in identifying a problem that could extend for generations to come.”

A great deal of scientific data has in fact been documented to show trends of selected genetic disorders in UAE communities, and it is the mission of UAEGDA to make the country free from births of children born with thalassemia by 2012.

Early passing of pre-marriage mandatory Thalassemia testing law demanded

May 15, 2010

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Karachi: Over 11.6 million people have Thalassemia Minor in Pakistan while the country houses over 100,000 Thalassemia Major, a life-threatening disorder of the blood that is completely hereditary, the journalists were informed at Karachi Press Club at a press briefing by head of a major Blood Bank demanding early legislation of law to make pre-marriage Thalassemia testing to help reduce the fatal disease.

This was stated by the Chief Executive Officer of one of the biggest and most trusted Husaini Blood Bank, Asad Ali. Flanked by Deputy Speaker of Sindh Assembly Ms. Shahla Raza; provincial Minister for Jails Haji Muzaffar Shijra; provincial Labor Minister Ameer Nawab; central leader of Pakistan Muslim League (Nawaz) Syed Hafeezuddin; Naib Ameer Jamaat-e-Islami Meraj-ul-Huda, Secretary General of Pakistan Tehreek-e-Insaf and leader of Jamiat Ulema-e-Islam Rahman Syed Mumtaz Haider, said that despite the unanimous passage of the resolution moved by Haji Muzaffar Shijra the law to make pre-marriage Thalassemia testing was not yet passed in to a law to help bring down incidence of Thalassemia Major. “While Thalassemia Minor is common and those who have it live a normal life the probability of having this totally hereditary disease shifted to children of couples having it is resulting in pushing Thalassemia Major in the country.”

The journalists were informed that in many countries in Pakistan’s neighborhood like India, Saudi Arabia and Iran have made legislation that makes pre-marriage Thalassemia testing mandatory to help reduce Thalassemia Major incidence. However, the failure to make law has pushed Thalassemia incidence to dangaerous levels that undermines the very health of the nation.

The speakers said that if an adult Pakistani make a habit of donating just one bottle of blood a year it would help totally eradicate the acute shortage of blood in the country which stands at around 7,600 bottles a day. The journalists were also informed that each year around 6,000 babies are born in the country with Thalassemia Major and they need around 25-30 bottles of blood each year to keep alive.

The speakers also demanded that a column should be added in the Nikahnama (marriage registration certificate) to certify if a bride or a groom has Thalassemia Minor because marriage of Thalessemiazed parents almost certainly mean that one of the four children born to them would have Thalassemia Major, two from Thalassemia Minor and that only one could be a normal child.

The speakers requested the media representatives to help create the much needed awareness to understand the harming consequences of marriage of Thalassemia Minor because it poses grave risks to their children.

The press briefing coincided with the World Thalassemia Day which is celebrated on May 8 every year.

Innovative drug design wins medical research prize

May 15, 2010

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The development of a new way to treat iron overload disease has won the 2010 Sir Zelman Cowen Universities Fund Prize for Medical Research.

Dr Rachel Codd from the Discipline of Pharmacology won the Prize for her discovery of an award-winning compound that has the potential to significantly improve the treatment of the disease.

Inheritable blood disorders arising from single-gene defects are among the most common diseases in the world, with around seven per cent of the population estimated to be carriers. Each year, 300,000 to 500,000 babies are born with severe blood disorders, including sickle-cell anaemia and the thalassemias.

To prevent life-threatening anaemia, patients with beta-thalassemia undergo blood transfusions every two to four weeks. Regular blood transfusions cause an excess of iron to accumulate in the body resulting in iron overload disease. Since humans do not have an active iron excreting mechanism, patients must undergo additional treatment to remove the iron (chelation therapy).

The current treatment for iron overload disease is effective only when administered by intravenous infusion. To improve the quality of life of thalassemia patients, there is a need to develop iron chelation agents that are orally active.

Dr Codd has shown that simple modifications to the currently available iron chelation therapy have the potential to improve treatment options for thalassemia, including oral delivery. In addition, the compounds may have application in neurodegenerative diseases such as Parkinson’s disease, in which irregular iron levels have been implicated as contributing factors.

Dr Codd’s group at the University uses a chemical biology approach to find platforms for drug design and drug discovery. This approach has also led to innovations in the design of compounds as potential anti-cancer agents and antibiotics.

Professor Jonathan Stone, Managing Trustee of the Sir Zelman Cowen Universities Fund congratulated Dr Codd on winning the award.

“In awarding the Prize to Dr Codd, the Prize Committee noted the novelty of the compounds, their clinical applicability to a range of difficult-to-treat diseases, and the strong momentum of Dr Codd’s work,” he said.

The Prize, an award of $10,000 and a medal crafted by renowned Melbourne sculptor, Michael Meszaros, will be awarded to Dr Codd at a function to be held later in the year.

Testing a future

February 9, 2010

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Last Tuesday the Lurias in Hassenfeld Conference Center had a different feel than usual. Instead of having empty chairs and tables, students were seated against the wall waiting in line or moving table to table to answer questions about their genetic histories. Next, students moved to to a table to have a blood sample taken. In four weeks, these students will know what genetic diseases they might carry.

Dr. Harry Ostrer, the geneticist behind the testing, came to Brandeis with a team of assistants from New York University to conduct free genetic tests on students of Jewish heritage. Ostrer, who has a distinctively dark mustache, specializes in studying diseases that affect Ashkenazi Jewish populations.

Ostrer and his team have been traveling to various college campuses across the United States to offer free genetic screening since the 1970s and 80s. Since then, Ostrer has been to schools such as Stanford, Harvard and Yeshiva University.

Genetic testing involves taking a blood sample so that the DNA can be sequenced and analyzed to find out whether a person carries genetic defects or diseases. The students who were tested will get their results back in four to six weeks.

Ostrer says the importance of getting tested as early as possible comes down to having a broader display of options about potential diseases early on. In the past, people learned about their risk for having affected children only after a child was born.

“Through genetic testing, it is possible to identify people whose children may be at increased risk,” says Ostrer.

Ostrer decided to focus his research primarily on Ashkenazi Jews after finding evidence pointing to the reappearance of many prevalent disorders in Jews of Eastern European descent. Diseases such as Canavan disease, cystic fibrosis and Tay-Sachs are some of the most severe. The signs and symptoms of Canavan disease are mental retardation, seizures and cerebral palsy. It progresses rapidly and is fatal by the age of 12, and approximately one in 40 Jews of Eastern European descent is a carrier. Cystic fibrosis causes frequent respiratory infections that later lead to lung damage. The disease also affects the digestive system and ultimately the heart. Approximately one in 20 Ashkenazi Jews are carriers. Tay-Sachs, one of the most feared diseases, causes blindness, mental retardation, seizures and paralysis. It is fatal by age four to five. Approximately one in 25 Eastern European Jews are carriers, while one in 300 are carriers in other groups.

Understanding how the body works is important in understanding Ostrer’s work. We inherit two copies of most genes, one from the mother and one from the father. If one of these genes is mutated, the proteins created from that gene will be abnormal. While a mutation in one copy of a gene can sometimes lead to disease, often a person with one mutation will only be a “carrier” of the disease rather than express the disease themselves. A man and a woman who both carry the genetic defect, however, are at risk for having a child with two defective copies of the gene and thus the disease.

Ostrer’s extensive research on Jewish genetics has created awareness among Jewish college students about what diseases they may be carriers of.

Ostrer tests students, most of whom are unmarried, to give them time to think about their options. Since most college students are not confronting reproductive choices, upon finding out that they are carriers of a gene for a recessive disease, they will be able to make more informed decisions.

Paul Gale ’12, is a little nervous about the results but thinks that testing is important and was surprised that more students were not tested.

“It’s a reality I’d have to face at sometime, and I’d thought I’d get it over with. It puts things into perspective,” says Gale.

Ostrer says that couples in which both partners carry recessive genes for any given disease have two options in order to bear a child.

“For couples who have an affected fetus, there is termination of pregnancy. Another possibility for carrier couples is in vitro fertilization,” says Ostrer. “When you’re in college, it is not too soon to start thinking about it.”

With that in mind, some college students were still skeptical about getting tested.

“There is no need to know now; when and if I decide to have children, I will definitely consider getting screened,” says Nathan Mizrachi ’12.

Students who did choose to get tested were primarily of Ashkenazi descent. However, there is a common misconception that most genetic diseases are prevalent only among Ashkenazi communities.

“There are some conditions that are common in both Ashkenazi and Sephardic communities,” says Ostrer.

For example, cystic fibrosis is present among virtually all Jewish populations, says Ostrer.

Ostrer also says that the there is a very low possibility of there having been any sort of cultural interaction or exchange among Ashkenazi and Sephardic Jews, given that they lived on completely opposite sides of the world.

“Some people think that being a carrier of cystic fibrosis actually increases your resistance to being infected by plague, so there may actually have been natural selection occurring that gave selective survival advantage to people with cystic fibrosis,” says Ostrer, although he says this is only a theory.

Apart from his work on college campuses, Ostrer is also looking to expand these genetic screening tests to involve other ethnic groups. Many ethnic groups have diseases that occur more frequently among their members than in general populations. For example, sickle cell anemia is very common among black populations, and thalassemia is prevalent mainly among individuals of Mediterraean ancestry.

Currently, Ostrer and his team are looking to “develop genetic tests that would be more specific for Iranian and Syrian Jews, which are the third- and second-largest Jewish populations in America.”

What is Thalassemia?

December 10, 2009

Courtesy by: 24medica

Thalassemia is an inherited condition that causes a problem in the production of hemoglobin. This leads to anemia, which is a low red blood cell count.

What is going on in the body?
Hemoglobin carries oxygen from the lungs to the tissues. It also carries away the waste product of carbon dioxide. In thalassemia, something goes wrong with the production of hemoglobin. When defective hemoglobin is incorporated into red blood cells, the red blood cells do not function properly. They are more likely to die off. This leads to anemia.

Thalassemia is an inherited disorder. In a person with thalassemia, one or both parents are positive for the disease. When one parent is positive, the child will have thalassemia minor. When both parents are positive, the child will have thalassemia major.

What are the causes and risks of the disease?
Thalassemia is a common genetic disease. It is more common in people of African, Mediterranean, and Asian heritage.

What are the treatments for the disease?
With severe thalassemia, regular blood transfusions are needed. The person will also require folic acid and other nutritional supplements.

An individual who has frequent red blood cell transfusions can develop iron overload. This can be avoided with chelation therapy. This is a process that removes excess iron from the body. This therapy may need to be started early in childhood.

Some treatments for thalassemia are still being tested in clinical trials. These include:
– changing the abnormal hemoglobin genes using medications similar to those used in cancer chemotherapy
– bone marrow transplant and infusions of stem cells, which are starter cells
– specific gene therapy targeted at the abnormal chromosomes

These approaches are usually reserved for severe thalassemia.

What are the side effects of the treatments?
Frequent blood transfusions can lead to an iron overload. Excess iron can end up in various body tissues and cause skin discoloration, liver disease, and diabetes. Chelation, which involves daily injections of an iron-binding agent, can help eliminate the excess iron from the body.

There are risks with any blood transfusion. These include an allergic reaction, infection, and sometimes hepatitis or HIV, the virus that causes AIDS.

Bone marrow transplants can cause the body to attack the new bone marrow. Or the new bone marrow may not function at all.

What happens after treatment for the disease?
A person with severe thalassemia may need frequent blood transfusions for the rest of his or her life.

How is the disease monitored?
Thalassemia is monitored by frequent blood tests. The person will need to be followed closely by the healthcare provider. Any new or worsening symptoms should be reported to the provider.

Studies Investigate Emerging Trends and Treatment Options for Patients With Sickle Cell Disease

December 8, 2009

NEW ORLEANS, Dec. 6 /PRNewswire-USNewswire/ — Sickle cell disease, a condition characterized by deformed and dysfunctional red blood cells, is one of the most common genetic blood disorders affecting millions of people around the world, including more than 70,000 Americans.(1) Research presented today at the 51st Annual Meeting of the American Society of Hematology highlights intriguing studies on the acute danger that the H1N1 pandemic presents for children with this blood disorder, evaluations of both new and standard treatments for common complications of sickle cell disease, and an expansion of the current understanding of hemoglobin expression in red blood cells that may lead to new treatments.

“Treatment for sickle cell disease consists primarily of life-long supportive care, with the only cure being bone marrow transplantation — a risky procedure that is not readily available for most patients,” said Alexis Thompson, MD, PhD, moderator of the press conference and Hematology Section Head at the Children’s Memorial Hospital and Associate Professor of Pediatrics, at Northwestern University Feinberg School of Medicine, Chicago. “Therefore, research in this area is particularly important to help ensure that improved therapies continue to be developed and that patients with sickle cell disease have access to the best possible care.”

This press conference will take place on Sunday, December 6, at 10:00 a.m.

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