UAE Genetic Diseases Association carries on initiative for UAE free from thalassemia by 2012

July 30, 2010


UAE Genetic Diseases Association (UAEGDA), the sole non-profit genetic organization in the UAE, recently announced that they are on track to achieve their “UAE Free from Thalassemia 2012” initiative, saying that the target looks quite achievable to eliminate births of children born with the genetic blood disease within the next two years.

Offering free and confidential testing and in association with National Bonds Corporation PJSC, the organisation held a blood screening drive earlier this week for its employees to screen them for the most commonly inherited blood genetic disorders—including as Beta Thalassemia, sickle cell anaemia, G6PD deficiency and Diabetes Mellitus—in support of UAEGDA’s national health campaign.

Regularly organized screening drives help to increase an individual’s awareness on the health risks posed by genetic blood disorders, which can be passed from one generation to the other. The process begins by registering online at the UAEGDA website. Bar-coded labels are then printed and placed on the individuals testing tubes after which the sample of blood is processed in the UAEGDA laboratory. The results are then sent directly to the individual’s email with all the details being handled solely between the client and the organization.

Dr. Maryam Matar, Founder & Chairman of UAEGDA, says that genetic blood diseases like thalassemia are highly prevalent in the UAE but can be addressed with a simple and inexpensive blood test as a primary solution in helping to reduce the presence of hereditary diseases in the country.

“We are confident that with the rapid increase in the activities of our organization and with all the awareness events organized by UAEGDA across the country, we can make the UAE free of thalassemia by 2012,” adds Dr. Matar.

As one of UAEGDA’s leading partners, National Bonds Corporation PJSC takes responsibility towards its employees seriously and is working in association with UAEGDA to support the government’s campaign to eradicate thalassemia in the country by 2012.

“We are committed to stepping up the fight against thalassemia and working towards the health of the nation, both in terms of physical and financial wellbeing,” comments Mr. Mohammed Qasim Al Ali, CEO of National Bonds Corporation PJSC.

“By offering our employees UAEGDA’s free and confidential voluntary tests, we can ensure their own wellbeing as well as that of future generations.”

The UAE Genetic Diseases Association has been able to considerably reduce the impact of common genetic disorders prevalent in the country through its community outreach programs, health education, counseling and free screening tests. They also have a free genetic clinic equipped with a state-of-the-art screening facility supervised by internationally renowned experts.

HemaQuest Pharmaceuticals Raises Additional $4M to Bring Total to $16M in Series B Financing

July 30, 2010


HemaQuest Pharmaceuticals, a clinical stage biotechnology company developing small molecule therapeutics for sickle cell disease, beta thalassemia and EBV-related cancers, announced today the closing of an additional $4M to its Series B financing by new investor, Latterell Venture Partners. This investment brings the total Series B financing to $16M. The financing is intended to help advance HemaQuest’s two lead products, HQK-1001 and HQK-1004, through Phase 2b clinical trials. Latterell Venture Partners joins the HemaQuest investor syndicate which includes Aberdare Ventures, De Novo Ventures, Forward Ventures and Lilly Ventures. In conjunction with the financing, James Woody, MD, PhD, General Partner at Latterell Venture Partners, has joined HemaQuest’s Board of Directors.

“HemaQuest is focusing on much needed clinical therapies for serious and life threatening orphan diseases. As a clinician who has cared for such patients, it is clear the unmet need is large and there is a significant need for novel new medications,” said Dr. Woody. “The company, with excellent leadership and considerable skill in the hematology and oncology space, has made great progress with the two lead compounds, with promising results in early clinical trials. We look forward to working closely with our colleagues at HemaQuest to advance these important drugs into registration trials, and eventually to patients.”

Fred Dotzler, Managing Director of De Novo Ventures and HemaQuest’s Chairman of the Board, said, “The investment by Latterell Venture Partners provides further validation to the Company’s technologies and progress in developing programs for its two lead products. We are delighted to have the very talented Jim Woody join the Board of Directors.”

HemaQuest Pharmaceuticals ( is a Seattle-based biopharmaceutical company focused on developing small molecule therapeutics based on its proprietary short chain fatty acid technologies to treat orphan hematologic diseases. HQK-1001 is an orally administered small molecule therapeutic being developed to treat the two most common hemoglobin disorders, sickle cell disease and beta thalassemia. The drug candidate has advanced through Phase 1 clinical trials and is completing testing in proof of concept clinical studies in patients with sickle cell disease and beta thalassemia. HQK-1004 is a unique therapy designed to treat malignancies associated with Epstein-Barr virus. A Phase 2 clinical trial is being initiated with this drug candidate.

Singing for a cause

July 30, 2010


Top corporate bosses lend their hand for a noble cause. At a fundraiser organised by Genesis Foundation this past week, aptly titled ‘CEOs Sing for their Supper’, CEOs from nine blue chip companies performed at the Crowne Plaza Today in Gurgaon.

It was indeed a music show with a difference as corporate bigwigs strummed their guitars and showcased their singing prowess before an enthused weekend audience. It also went on to prove that academic merit and professional success could in no way inhibit creative sensibilities developed during student days. Moreover, it also underlined the fact that commitment to social causes remained high on the priority of people who have managed to climb the success ladder.

At a fundraiser organised by Genesis Foundation this past week, aptly titled ‘CEOs Sing for their Supper’, CEOs from nine blue chip companies performed at the Crowne Plaza Today in Gurgaon. The aim was to collect money to be utilised to save the lives of critically ill children who are either orphans or come from less privileged families. The Foundation was formed with an avowed objective to provide financial support and medical intervention for critically ill orphans or children whose family income is less than Rs.5000 per month, with the focus area of support being cancer, heart, organ failure, thalassemia and extreme deformities.

Amongst those who performed during the evening were Niren Chaudhary, CEO, Yum Restaurants, Geetu Verma, Executive Director, PepsiCo India, Gopal Sarma, MD, Feedback Ventures and Shireesh Joshi, Director Marketing, Airtel. It was an eclectic mix of Hindi and English numbers, although, almost all were of an earlier vintage, something that went to prove that current genre of music has not been able to etch a permanent place in the heart of these music aficionados. It was an exciting format where the guests judged each performance and the winner selected a partner to join him/her in a grand supper.

The Foundation’s Goodwill Ambassador, Parvathy Omanakuttan, Miss India 2008, compered the event. Around 120 people purchased a place at the table for Supper in the effort to help raise funds to save the lives of nine children.

Modhesh Friends Forum participants visit Dubai Thalassemia Center

July 30, 2010


Children participating in Modhesh Friends Forum, organised by Dubai eGovernment as part of Dubai Summer Surprises 2010 being held from June 17 to August 7, were recently taken on a visit to the Dubai Thalassemia Center in Al Wasl Hospital. The children were accompanied by representatives from Dubai eGovernment, supervisors of Modhesh Friends Forum, in addition to several specialist doctors and staff from the Thalassemia Center, who together were focused on bringing a smile to the faces of thalassemia-afflicted children. Modhesh, the ever smiling character was also present to cheer up the children.

The visit to the center underlines Dubai eGovernment’s strong commitment to corporate social responsibility efforts, which benefit all community segments, including children diagnosed with thalassemia. Dubai Thalassemia Center is the UAE’s first specialized center to provide support and care to thalassemia-afflicted people.

The visit by Modhesh Friends Forum participants featured an informative presentation about Thalassemia, its stages of development, diagnosis, and the medical services offered by the center. It also featured an entertaining performance by Modhesh, followed by the distribution of special gifts to the children at the center.

Boy needs aid for transplant

July 30, 2010


A 10-year-old boy suffering from thalassemia since he was one desperately needs a stem cell transplant.

Liew Chon Kong has been undergoing blood transfusions every month at the Sultanah Aminah Hospital since he was four.

Lam Mei Lin, 37, said Chon Kong, the elder of two sons, has been suffering from constant headaches and extreme fatigue since young.

“The doctors have said the best option now is to go for the transplant, as frequent blood transfusions put him at risk of an iron overload.

“Such overload can damage his heart and liver,” she told a press conference organised by Johor MCA Public Complaints Bureau chief Chia Song Cheng.

Lam, an administration officer at a factory, added that none of her family members had matching stem cells.

She had spent more than RM28,000 to search for a match via the Sultanah Aminah Hospital as well other hospitals in Singapore, but to no avail.

“I have since consulted a transplant team at Chang Gung Memorial Hospital in Taiwan, who has informed us that they have found a match.

“However, the suitable stem cells as well as the transplant cost about RM350,000 and the surgery is scheduled for October,” she said, adding that her husband was an air-conditioning technician.

Lam added that she had managed to collect RM50,000, but needed help from the public to raise the rest of the amount.

“I appeal to the public for their kindness as my son’s life depends on the surgery,” she said.

Chia hoped people could show their kindness to Chon Kong’s family.

Well-wishers can contact the Johor MCA headquarters at 07-2233915; or write to the party state headquarters at Fifth Floor, Bangunan MCA Negri Johor, Jalan Segget, 80,000 Johor Baru.

Blood donors supply Emily the gift of life

July 24, 2010


EMILY Alcantra loves hip hop dancing, cheerleading, playing netball and going to the movies with her friends – just like many other active teenage girls.

But she’s only alive because of regular blood transfusions.

Emily was born with the life-threatening blood disorder, thalassemia. The condition affects her ability to make red blood cells.

Royal Children’s Hospital pediatric haematologist Jeremy Robertson said Emily would have died in early childhood without monthly blood transfusions.

“Genetically, she can’t make enough haemoglobin so that she’s chronically anaemic,” he said.

Except for spending one day every four weeks in hospital receiving a litre of blood – equivalent to about three or four donations – Emily lives a “normal life”.

Emily, a Year 8 student at St Paul’s School in Bald Hills, on Brisbane’s northside, said she felt no different to her friends.

“It’s kind of like it’s not even there, despite the visits to hospital and stuff,” she said.

“I’m very, very grateful to the blood donors. If it wasn’t for them, I wouldn’t be here.”

Westwood woman running in the home of the original marathon

July 24, 2010


Victoria Koutris, of Westwood, will be running the Athens Marathon in October to raise money to fight a genetic blood disorder that affects people of Mediterranean descent.

Koutris hopes to raise $4,900 by Aug. 25 in donations to the AHEPA Cooley’s Anemia Foundation.

Koutris, 20, has lived in Westwood all her life. Her father came to the U.S. from Greece in his early twenties.

She got an email from an aunt in Greece asking if she was interested in running the Athens Marathon.

“This was an opportunity I could not pass by,” Koutris said. “ I knew I had to do this. I have always been very athletic, although I had not thought I would be running a marathon at 20.”

Koutris is a junior at the University of Massachusetts-Amherst, majoring in sports management and marketing. Last semester Koutris spent five months in Australia working as an intern for a rugby team, where she was involved in sponsorship and marketing.

The Athens Marathon is on Oct. 31.

Cooley’s anemia, commonly referred to as thalassemia major, is the most severe form of a group of fatal genetic blood disorders that mainly affect Greeks and Italians. There is no cure for the disease so far. To prevent early death from organ failure, patients require frequent blood transfusions. Patients are diagnosed before they reach their first birthday.

“Thalassemia gets its name from Greek,” Koutris said. “Thalassa means sea and ‘aima’ stands for blood. Twenty million people in the U.S. have the minor form of thalassemia and don’t even know it. They can pass it on to their children in the major form, which is fatal. You must inherit the defective gene from both parents to develop thalassemia major. Patients of this disease have to go to the hospital every two or three weeks for a blood transfusion. Then they get too much iron in their body and need chelation therapy to get rid of the extra iron.”

Koutris has started training for the Athens Marathon. This year it will be the 2,500th anniversary when the legendary soldier Phidippides ran from Marathon to Athens to inform Athenians of Greek victory against the Persians.

So far Koutris has raised $3,000 and she is hoping that more people will contribute to her cause.

“Although none of my immediate family have been affected by thalassemia major, I want to make a contribution,” Koutris said. “ Nobody should ever have to suffer from this disease. Not a single penny goes to me. It all goes to the Foundation. I am so determined, that’s who I am. Everyone has been so supportive of me, which gives me more motivation to do it. I am eager to participate in the 2010 Athens Marathon and trust it will be a tremendous experience that will provide memories to last a lifetime.”

Contribute to Koutris’s fundraising effort by either online at or send a check to P.O. Box 2564, Westwood, MA 02090.

Thalassemia major boy saved after stem cell transplant

July 24, 2010


A five-year-old thalassemia major boy got a new lease of life following a successful stem cell transplant and would never require any blood transfusion in his life, doctors who treated him said here today.

“Kavya, son of Mahesh Vaghela who works with the Ahmedabad Municipal Corporation (AMC), under went a stem cell transplant last month. His condition is fine now as the donor cells have been accepted by the body,” Dr Uday Deotare of Sterling hospital, who led the team of doctors who operated on Kayva told reporters.

“The stem cell were extracted from bone marrow of Kavya’s elder brother Mihir (7),” he said.

Giving a brief medical history of Kavya, Deotare said that Kavya was detected with thalassemia major when he was six months old.

“Since then he has been undergoing blood transfusion every month till he was four and half year old. His parents had approached us some time ago for the operation which is very costly,” he said.

“Now that the operation is successful, Kavya would not need blood transfusion for the rest of his life. However, he would be on medication for next one year,” Deotare said.

Kavya’s father Manish said that he was very happy that his son was cured and would never need blood transfusion. “I am thankful to the doctors who save my boy,” he added.

NHRC issues notice to Raj govt on infected blood transfusion

July 20, 2010


The National Human Rights Commission has taken suo motu cognizance of a report alleging three child patients caught HIV and 17 others are suffering with Hepatitis-C due to infected blood transfusion in Rajasthan.
”We recieved some media reports that due to infected blood transfusion, three child patients of Thalassemia have caught up HIV and 17 are suffering with Hepatitis-C in Ummed Hospital at Jodhpur,” a spokesperson for NHRC said today.

The NHRC issued notice to the state’s Principal Secretary, Health and Family Welfare, and directed him to provide a report within four weeks from the date of its receipt.

The patients’ relatives have alleged that the state government has not provided facilities for the Neutrophils test even after five months.

This test is necessary to diagnose infection in blood.

Neutrophils are a type of mobile white blood cells that capture foreign particles and bacteria.

”The reports also alleged that a number of Thalassemia patients have become victim of infected blood transfusion in the past as well in the state,” the spokesperson added.

The Commission observed that the contents of the media reports, if true, raise serious issue of violation of human rights of the child patients.

A cruel fate

July 20, 2010


Ten year old Sanduni had been just a four month old baby when she was diagnosed with Thalassemia. Ever since then, she has been making monthly visits to the National Thalassemia Centre (NTC) in Kurunegala for her prescribed blood transfusion. Seeing the plight of this little girl lying in a ward- bed at NTC with a cannula taped to the back of her tiny palm was heartbreaking. This world seemed a cruel place for having brought the fate of a ten-year-old to a state where she would not have another choice than to undergo such pain for the rest of her life.
Sanduni’s story

“My husband and I became concerned of our new-born baby when we realized that she was considerably inactive in comparison to other babies of her age. She was pale and slow and she was even having difficulty sucking the milk when I breastfeed,” Sanduni’s mother P.A. Deepa Kumari said. So Kumari witnessing these symptoms turn worse by the day had consulted a doctor at the Dambulla hospital.

This young mother says that her first and foremost concern when she learnt of her daughter’s condition was to find the funds for the required treatments and medications. “My husband is a mason so we don’t have the financial capability to afford high-cost treatments. I felt so helpless at this thought,” she recalled. A massive burden in Kumari’s mind had been relieved when she was told that all treatments and medicine required to treat Sanduni’s condition is provided free of charge by the NTC.

Sanduni attends the Beliyakanda Siriwajjana Vidyalaya. “My favourite subjects are Sinhala and Enviornmental Studies,” she said as a bright smile lit up her face. “My daughter is very keen on her studies but she misses school almost every week. On days which she uses the infusion pump with medication she is kept at home. Also each month she misses school on days she goes for the blood transfusion. Her performance at school is average and I feel very happy about it considering the circumstances,” her mother said.

Thilini’s story

Twenty year old Thilini Nisansala is expecting to sit for the GAQ examination at the Kelaniya University to continue her higher studies and also volunteers at the NTC as a librarian.
“I was diagnosed with Thalassemia when I was three months old. Since then I have been getting monthly transfusions and the daily dosage of drugs. The intake of drugs daily is a bit painful when the infusion pump is injected but now after years of it the body is adapting   to the pain,” she said adding that since she started work and studies she has started taking the medication in the nights.

Thilini is from Kurunegala and her father who works at the Co-operative fuel station is the breadwinner of the family. “Providing the drugs and blood transfusion services free of charge is a massive relief for families such as ours because we wouldn’t be able to afford these treatments if we had to pay,” she said.

One could not even know that Thilini was suffering from Thalassemia because she is very active and energetic.  She has many plans for the future but her main aspiration is to complete her higher education and get into a good profession. “I have a younger brother who also has Thalassemia so my parents have had a very rough life bringing us up. I want to someday give a happy comfortable life to my family,” Thilini said with certainty.

Dilemma at NTC

There are hundreds more similar cases who visit the NTC daily for bloodtransfusions, Thalassemia detections as well as consultations. The transfusions and medications are provided to patients in order to maintain the normality in their bodies against the complications that occur due to Thalassemia. However, seven Thalassemia patients died during the past two months. Although this was reported asdue to  a ‘scarcity of drugs’, the NTC said that the actual rationale behind the situation was a completely different reason: a substitute drug.

“The patients are given a drug named Desferal (Desferoxxamine) for Iron Chelation – to reduce the Iron accumulation in the body due to frequent blood transfusions,” said Dr. Ashok Perera of NTC explaining the background of the situation. According to Dr. Perera the concentration of Iron in a normal human should range between 20 – 400 ng/ml. But this rate rises to about 4000 -5000 ng/ml in a Thalessemia patient due to frequent blood transfusions.

“The excess Iron accumulates mostly in various parts of the body and disrupts the functions of each of the organs,” Dr. Perera explained adding that if the patient does not go through proper Iron Chelation treatments they could suffer from heart and liver failure, pancreas failure which could result in chronic diabetes as well as various hormone -related diseases.

“Desferal should be taken 10 -12 hours daily through an infusion pump which is injected into the patients’ body. This situation arose partly as result of the substitute drug for Desferal as it was rejected by some patients due to various side effects such as itchiness, swelling and redness around the injection area. As a result, the Iron concentration of the bodies increase and the patients die of complications which arise due to high Iron concentration in the body,” explained Dr. Perera.

NTC Consultant Dr. Dayarathne Bandara said due to these deaths  many other  patients too refused the intake of the substitute drug. “It was not a situation we could afford to risk. Fortunately the situation is under control now. The Ministry provided the Desferal drug once more and the patients are continuing their medications routinely,” he said.

Moreover, Dr. Perera said that the Ministry has also provided an oral drug for Iron Chelation named Asunra (Deferasirox). “The patients seem to prefer this drug as it does not require injection,” he added.

What is Thalassemia?

“Thalassemia is a genetic disease; in other words this disease is passed from one generation to the next,” Dr. Ashok Perera of NTC said.
The disease is caused through a defection in the 11th chromosome pair. When one chromosome in the pair is defected, such an individual carries a depressed, diseased gene. “These carriers don’t have the disease. But they carry the genetic defection in their bodies. Once such a pair marries, their children have a 25% possibility of being Thalassemia patients,” Dr. Perera said.

The ailment of this disease is linked to red blood cells. It causes a premature breakdown of red blood cells reducing the life span of an average red blood cell from 120 days to 30 -60 days.

Thalassemia is diagnosed at a very young age. The symptoms of the disease are clear as the children become anaemic. “In rural areas this condition was commonly referred to as the Kehethage Apale or Maandama. As the patients, mostly children were not given the necessary medication their lives were limited to 7 -8 years,” Dr. Perera said.

In Sri Lanka the majority suffers from Beta Thalassemia. The first patient had been diagnosed in 1945 by Professor C.B. de Silva. At the moment there are about 2000 Thalassemia major patients in the country and the NTC which is the largest Thalassemia centre in the country treats about 775 of those patients.

What can we do to help these patients?

Those who wish to make donations to NTC can make their donations to the following accounts to assist in the prevention and rehabilitation processes.

Prevention fund

  • Account name: Thalassemia Prevention fund
  • Account number: 012-2-001-4-0007613
  • Bank: People’s Bank – Hospital Branch, Kurunegala Rehabilitation fund
  • Account name: Thalassemia rehabilitation fund
  • Account number: 012-2-001-0-6905993
  • Bank: People’s Bank – Hospital Branch, Kurunegala

Economic burden of Thalassemia

Dr. Ashok Perera says 5 – 7% of the funds of the health budget is allocated for Thalassemia patients annually. The Government spends nearly Rs.0.4 million on a patient each year. As patients age, the money spent increases to a maximum of Rs. one million.

NTC treats nearly 800 Thalassemia patients and about 50 patients are accommodated at NTC for blood transfusions daily. The drugs, the Iron Chelation device as well as blood transfusions are provided to patients free of charge by NTC. “The Iron Chelation device alone costs Rs. 50, 000 and is provided to each patient. It can be used 10 -15 years,” said Dr. Perera.  A vial of Desferal costs Rs. 350 and an average patient requires at least 100 vials per month. Therefore the cost of medicine alone for a patient is above Rs. 30,000 each month. “NTC requires about Rs. 7.5 million worth Desferal each month,” Dr. Perera added.

NTC provides an excellent blood transfusion service. An average patient requires 800 -900 ml of blood each month. Dr. Perera said that the total requirement of blood is about 650 pints each month.  Dr. Ashok Perera said that the high financial cost which the country has to bear is one of the main reasons to ensure the prevention of this disease and thereby reduce the number of new Thalassemia cases. “In 2007 we received 50 new Thalassemia patients. It was the highest number of new detections so far. Therefore, we launched a program which concentrated on Wayamba, North Western and North Central provinces to carry out prevention and awareness programs,” Dr. Perera said.

Prevention of Thalassemia can be done by preventing the marriage of two Thalassemia carriers or two patients. Undergoing a simple blood test to check the carrier status can determine the safeguard of the future generation from this disease. A full blood count and a chemical analysis of the red blood cells are carried out in order to determine the carrier status of an individual.  Dr. Perera says that it is vital for a couple to check the Thalassemia status in their blood before marriage. Once an individual goes through the Thalassemia screening test, they are provided with a green card if they do not bear a risk. The Thalassemia carriers are provided a pink card.

“The pink card holders should marry ONLY a green card holder. That is the only method which we can use to ensure the prevention of Thalassemia,” Dr. Perera said.  He said that  about 150 individuals come to NTC centre daily to undergo the Thalassemia screening process.

“As a result of the awareness programs the number of new patients has decreased gradually. Last year we received only 30 patients. But this year once more it has increased slightly because so far we have detected 40 new patients. Our aim is to bring down this number to below ten,” he added.

Thalassemia highly prevalent in Wayamba

Dr. Ashok Perera of NTC says Thalassemia carrier concentration in each province is about 2 – 3%. However in Uva, North Western and North Central provinces this rate is about 8 -10%. What is the reason behind the high number of Thalassemia carriers in these provinces?

“This is a situation that stemmed following the Malaria epidemic which was highly prevalent in these provinces during the 1930s. Thalassemia patients are immune to Malaria, therefore they survived the epidemic. Their generations that continued are now carrying the disease in these areas and therefore there is a high concentration in these areas,” Dr. Perera said.

According to Dr. Perera the highest Thalassemia number is prevalent in Ibbagamuwa. “We conducted a screening process on 2000 school children in Ibbagamuwa about a week ago and some 250 of them were directly diagnosed as Thalassemia carriers,” he said.

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