New breakthrough in thalassemia-related complications

Courtesy by: presstv.ir

British researchers have recently discovered a new way to predict which thalassemia patients will develop heart failure.

Thalassaemia is an inherited blood disorder caused by decreased and defective production of hemoglobin, a molecule found in red blood cells (RBCs), and responsible in transporting oxygen throughout the body.

While multiple lifelong transfusions can save a patient’s life, they place the victim at an increased risk of serious side effects, mainly an overload of iron, a condition that can affect the normal functioning of the heart and liver, as well as delaying growth and sexual maturation.

Previous studies had reported that heart failure accounted for some 70 percent of the fatality rate among such patients.

Seventy percent of these patients with thalassaemia, a blood disease involving defects in haemoglobin production that causes anaemia, currently die of heart failure.

According to a study published in Circulation, magnetic resonance scanners, known as cardiac T2*, measure the iron level in the heart and hence can detect individuals at risk of developing heart failure.

The new system can detect ferrihydrite, the iron deposited in the cells of the heart, identifying individuals with higher levels of iron deposits who are at a greater risk of developing heart failure in the long-run.

“T2* is really the penicillin of the thallassaemia world – penicillin saved so many lives and T2* is going to do the same,” said Dudley Pennell, the lead author of the study, adding that the device is a powerful predictor of the subsequent development of heart failure in thalassemic patients.

Scientists reported that the scanning technique not only helps detect the at-risk patients, but can also evaluate the efficacy of different drugs in removing iron from the body.

FDA Conducting a Safety Review of Deferasirox Due to Reported Adverse Events

Courtesy by: docguide.com

ROCKVILLE, Md — September 25, 2009 — The US Food and Drug Administration (FDA) is reviewing adverse event information for Exjade from a database that tracks all patients who are prescribed deferasirox (Exjade). This information suggests there may be a greater risk for adverse events such as kidney failure, gastrointestinal haemorrhage, and deaths in patients with myelodysplastic syndrome (MDS) compared with patients without these conditions.

Many of these patients are aged over 60 years and the adverse events are problems that are not uncommon in people with MDS. The number of deaths and serious adverse events seem to be fewer in younger patients with other chronic anaemias such as beta Thalassemia and Sickle Cell disease.

In reviewing the reports of adverse events and deaths, the FDA has found several factors that make it difficult for the Agency to draw conclusions without further analysis. These factors include the patients’ advanced age, the seriousness of their disease, other medical disorders they may have, and their need for blood transfusions.

Deferasirox has known adverse drug events, some of which have been fatal. These events include kidney and liver failure — particularly in patients who have other conditions that would make them more susceptible to kidney or liver problems — and gastrointestinal ulcers and/or haemorrhage.

The FDA has not determined whether or not patients with MDS or older patients treated with deferasirox are at greater risk for adverse events or death compared with patients of a similar age or diagnosis who were not treated with deferasirox, or compared with patients who are younger who have other chronic anaemias and have been treated with deferasirox.

The FDA is working with Novartis, the company that manufactures deferasirox, regarding potential revisions to the prescribing information to warn healthcare professionals about the possible risks of using deferasirox in certain patients and to ensure that the benefits of deferasirox outweigh the potential risks, particularly in older patients and patients with MDS.

The Agency will communicate its final conclusions when the analysis of these and other data are complete.

The FDA urges both healthcare professionals and patients to report side effects from the use of Exjade to the FDA’s MedWatch Adverse Event Reporting program.

Genomic Research Will Help Provide Alternative Treatments to Patients With Iron Overload

Courtesy by: marketwire.com

While most people are familiar with anemia – or lack of iron in the blood – they are less familiar with diseases of too much iron.

Excess iron in the body, if left unchecked, can form toxic deposits in major organs leading to serious conditions including heart failure, diabetes, liver cirrhosis, arthritis, and even infertility. Iron overload can be a consequence of a genetically mutated gene known as hereditary hemochromatosis, or a consequence of red blood cell transfusions, required as life saving treatments, for patients with diseases such as thalassemia.

Patients with hemochromatosis and thalassemia both absorb too much iron from their diet which either causes or exacerbates their iron overloading to levels that are toxic.

The mutated gene for hemochromatosis is carried by 1 in 9 Canadians. Currently over 100,000 Canadians and several million people in the US have hemochromatosis, with many of these patients still undiagnosed.

“Part of the problem is that this condition of hemochromatosis will present itself in disguised ways and is often unrecognized by physicians. A patient may have arthritis, or extreme fatigue or even diabetes, but often it’s not linked to the real genetic cause, which is iron overload,” says Dr. Paul Goldberg of Xenon Pharmaceuticals.

Goldberg is the lead investigator on the $7.5 million project entitled Enabling Studies for a DMT1 inhibitor – A Novel Therapeutic Approach for Treatment of Iron Overload Disorders.

The research, funded by Xenon Pharmaceuticals and Genome BC will tackle the disease, by creating a small-molecule drug to block excess iron absorption at its source: directly in the gut.

Currently, hemochromatosis patients are treated with lifelong phlebotomies – invasive and sometimes painful treatments that require regular trips to the hospital or clinic to remove about half a litre of blood, allowing the patient to produce new blood with less iron.

While phlebotomies work well in many of the patients, they can be problematic, causing recipients to feel unwell for a while following the procedure. “Patients are rendered anemic temporarily so the procedure is not suitable for people with heart conditions or needle intolerance,” says Goldberg. He also points out that patient compliance can be a problem with this form of treatment.

As such, Goldberg’s research is focused on creating a safe and effective oral therapy as an alternative or adjunctive treatment for those affected by iron overload.

“Patients with hemochromatosis are hyper-absorbing iron he says. The drug that we are developing would block the key transporter for this excess iron uptake, known as DMT1.”

Thalassemia patients may also directly benefit from the DMT1 blockers. These patients become severely iron overloaded at a young age due to the requirement for regular life saving blood transfusions and the additive complication of excessive iron absorption from their diet.

Patients who chronically receive blood transfusions are currently treated with iron chelators to control their iron levels. However chelators have severe dose limiting side effects and it remains challenging for clinicians to maintain normal iron balance in these patients. In addition, chelation therapy is extremely expensive, sometimes costing up to $50,000 per patient and may require for some patients frequent and prolonged intravenous administration.

“The Xenon drug provides an oral alternative and is being optimized for patient safety,” says Dr. Simon Pimstone, President and CEO of Xenon Pharmaceuticals. “Our DMT1 blockers could lower the dosage of iron chelator drugs making them safer or could make them more effective, either way, improving patient outcomes. Our goal is to test this drug in iron overload patients within two to three years.”

“Genome BC is pleased to co-support this innovative research, which may develop an innovative, safe and valuable treatment alternative to patients suffering from iron overload disorders,” says Dr. Alan Winter, President and CEO of Genome BC.

He’s here to heal

Courtesy by: statesville

When nine-year-old Khai arrived in America 10 weeks ago, he had little idea that up to three years of his life might be spent in Mooresville with a family giving their all to see the child return to Afghanistan healthy.

Khai was one of nearly three dozen kids from the war-torn country of Afghanistan to come to the Mooresville area June 23 through the nonprofit Solace for the Children. With a motto of “Building peace on a foundation of health,” the organization aims to bring children to the area for various medical treatments that aren’t widely available or affordable in their home countries.

And although many Afghan children came to North Carolina this summer with vision problems or hearing difficulties that could easily be aided in the six-week timeframe, several others arrived with more serious ailments requiring extensive care.

Khai, who has Beta Thalassemia Major and iron overload, was among the latter. But his diagnosis was too life-threatening to send him home in early August with the rest of the Afghan children.

Rather, he remains with his American foster family – the Ayris family of Mooresville, whom he met for the first time in June – for at least the next year to help extend his chances of survival.

Up to three years, however, could be needed before sending Khai back to his family in Afghanistan.

“We realized that his returning home would be detrimental to his health,” said Heather Ayris, who — with her husband, Aaron, and two sons — have welcomed Khai into their family.

Beta Thalassemia Major is a genetic blood disorder that causes the hemoglobin to become unhealthy, requiring frequent blood transfusions, which Khai has received since he was a baby, said Ayris.

“Due to the many transfusions needed to keep him alive, his iron levels are now dangerously high,” she said. “If they remain high, it will cause damage to his organs and the risk for cardiac arrest is the greatest concern.”

Ayris said Khai is unable to excrete the excess iron and is experiencing metal poisoning within his body as a result.

Three of Khai’s siblings have died from the same disorder. A younger sister is also afflicted.

“It’s so much larger scale that a traditional anemia,” said Ayris, adding that Khai ultimately requires a bone marrow transplant to help save his life. The family should find out by October if the nine-year-old is a candidate for the transplant. If he is, the length of his stay in Mooresville will extend to three years, at the least.

Until then, Khai is undergoing blood transfusions every three weeks – the next is scheduled for Tuesday – and receives nightly chelation therapy to remove the toxic iron from his body, Ayris said.

Despite knowing the extreme expense these treatments and a potential bone marrow transplant would cost – approximately $270,000 in all – Ayris said she and her family were committed from the start to helping the youngster as much as they could when they offered their home, hearts and money toward making him healthy.

And less than 48 hours before Khai was scheduled to return to Afghanistan with the other kids from Solace for the Children, the official word came from the embassy approving his stay in the United States.

“He thought he was going home. We were packing his suitcase and everything because we didn’t know,” said Ayris, adding that an interpreter had to tell Khai he’d be remaining with the family for another year.

“Khai has become close to our family in such a short time and we could no sooner send him back home to die than we could one of our own biological children,” Ayris said in a letter to friends seeking prayers and monetary donations when their journey began in early August.

With at least a $270,000 bill looming for Khai’s medical care, the Ayris’ reached out to members of the community and other agencies who might offer their assistance.

“Every time we’ve needed something, a door has been opened to us,” she said, noting that the $70,000 for Khai’s treatments over the next year have been paid for by the Patient Assistance Program of Novartis, the company that makes one of Khai’s medications.

“At this point, our attention is turning to try to get him the bone marrow transplant that he needs to cure him, finding the funding and doctors and hospitals to get that.”

At a cost of $200,000, Ayris said her family not only needs to seek donations, but has to hope and pray Khai is both a candidate and a transplant match can be found to save his life.

In the meantime, Khai’s life in America resembles that of a typical nine-year-old.

Enrolled in the third grade at Lake Norman Elementary, Khai attends classes with his new “brother,” eight-year-old AJ Ayris. The two kids are in the same class and Khai daily works through some English as a Second Language courses as he swiftly picks up the language.

“He understands probably 95 percent of what we say to him now,” Heather Ayris said, noting that Khai knew very little English when he first arrived. “He’s just a sponge. He’s been able to learn so much very quickly.”

Like AJ and seven-year-old Cade, Khai has taken up Tae Kwon Do.

“He’s watched AJ and Cade train over the past several weeks and we could tell he was ‘itching’ to join in on the fun,” Ayris said in an online update to family and friends through Caring Bridge, which offers “free, personalized Web sites that support and connect loved ones during critical illness, treatment and recovery.”

And as Ayris began registration for Khai, she discovered his membership for an entire year had already been anonymously paid for.

Calling the Afghan youngster “a part of the family,” Ayris said her two sons and Khai have become brothers since he arrived, which has made the transition much easier for all of them. But, unfortunately, it will also make his eventual departure extremely difficult.

“We’ll have to cross that bridge if and when we get to it. I would think he’d miss us just as much as we’ll miss him.”

She added, “It will definitely be a bittersweet moment because he has a family that loves him. He’s not going back to people that don’t care for him.”

She said Khai has been able to speak to his father about once a week and the two families have begun exchanging emails with updates on Khai’s health and daily life.

“He’s such a brave boy that sometimes you forget that he’s just a nine-year-old child,” Ayris added. “He’s surrounded by war (at home).”

And although he will eventually return to Afghanistan, Ayris said his immediate medical needs remain the primary concern.

With a variety of hurdles already overcome, Ayris said she and her family believe “the grace of God” has allowed each small miracle in this process to occur.

“If we just had 200,000 people give $1, that would save his life,” she mentioned. “He’s a child of God and we truly feel very called that god has called us to help.”

Want to help?

To donate, visit www.solaceforthechildren.org and utilize the “add special instructions to the seller” tab to write Khai’s name and ensure the donation helps his specific needs.

Also, cash donations or checks – with Khai’s name in the memo line – can be mailed to SOLACE for the Children, PO Box 65, Davidson, NC 28036.

Iran produces first desferal pills

Courtesy by: presstv.ir

Iranian researchers have produced the world’s first desferal pills to treat iron overload in patients suffering from thalassemia.

A hereditary blood disease, Thalassemia is characterized by altered hemoglobin formation and anemia. Patients must receive blood transfusions every 2 to 4 weeks to alleviate anemia-related symptoms.

While transfusion improves the quality of life in thalassemic patients, it adds excess iron to the body, resulting in chronic iron overload.

These patients receive desferal (deferoxamine mesylate USP), an iron-chelating agent, shots to slow the accumulation of iron in their bodies.

The newly-developed pills have shown promising results in overcoming the need for 8 to 12 injections per day in thalssemic patients. They can also lower the pain commonly experienced following the use of desferal injections.

“The new desferal pills have received FDA approval and are going to be mass-produced in the coming 3 months,” said managing director of the Iranian thalassemia association Mohammad Reza Mashhadi.

Some 18,616 thalassemic patients have been registered in Iran the majority of whom live in northern and southern parts of the country.

Due to a national prevention program which screens couples for thalassemia traits before marriage, the number of newly diagnosed cases has considerably decreased in recent years.