A research team from Iran investigated the accuracy of T2*-weighted magnetic resonance imaging (MRI T2*) in the evaluation of iron overload in beta-thalassemia major patients. The study showed that MRI T2* is a non-invasive, safe and reliable method for detecting iron load in patients with iron overload.
Iron overload is a common and serious problem in thalassemic major patients. As iron accumulation is toxic in the body’s tissues, accurate estimation of iron stores is of great importance in these patients to prevent iron overload by an appropriate iron chelating therapy. Liver biopsy is the gold standard for evaluating iron stores but it is an invasive method which is not easily repeatable in patients. Introduction of other more applicable methods seems to be necessary.
A research article published on January 28, 2011 in the World Journal of Gastroenterology addresses this question. The authors reported their experience of using T2*-weighted magnetic resonance imaging (MRI T2*) for determining iron overload in beta-thalassemic patients in Iran. They compared liver MRI T2* results in thalassemic patients with their liver biopsy results to determine if it is possible to substitute MRI T2* to assess iron overload in these patients.
The results indicated that the serum ferritin level is not a reliable method for estimating the level of iron overload in thalassemic patients. MRI T2* is a more accurate and non-invasive method which they recommend for measurement of iron load in these patients.
More information: Zamani F, Razmjou S, Akhlaghpoor S, Eslami SM, Azarkeivan A, Amiri A. T2* magnetic resonance imaging of the liver in thalassemic patients in Iran. World J Gastroenterol 2011;17(4): 522-525. http://www.wjgnet. … 7/i4/522.htm
Thalaessaemia patients can’t die prematurely just because they don’t have drugs. There are other factors to consider as well”.
So says Dr R. Mudiyanse, Consultant Paediatrician and lecturer at the University of Peradeniya.
In a frank interview with The Nation, Dr Mudiyanse, who admits that he himself is a thalaessaemia carrier said, “To say that temporary drug shortages can kill a thalassaemia patient is an emotional and irresponsible statement. You need to understand all sides of this disease, to make a fair judgement. Let me explain why these patients need drugs. The reason is that regular blood transfusions are essential for thalassemia patients, because unlike in normal persons where the red cells live upto 120 days, the red cells in thalessaemia patients are broken down in a much shorter time. Then they become anaemic, and so need blood transfusions. Those with severe thalassemia need to have blood transfusions every month, for life. With each pint of blood given them, there is iron accumulation. This is because blood in our body contains a great deal of iron. This iron when accumulated over a long period can become toxic to the body as it releases electrons that can damage cell membranes in the body. In the heart it can cause heart failure, in the pancreas it can lead to diabetes, in the liver result in cirrhosis, the pituitary glands resulting in stunting, in the gonads (ovary) it can prevent them from attaining maturity. It is to avoid these complications that they need iron removal drugs.”
What are these drugs? Are they available in the hospitals?
“There are 3 types of drugs which we give our patients. One is an injection taken once a day and which requires a 12 hour infusion. The other two are tablets, taken 3 times a day and once a day respectively. Whatever the iron that is accumulating in their cells due to a blood transfusion can be removed only by taking these drugs for 25 days every month. This has to be repeated each month after every blood transfusion.”
So if they don’t have the drugs will it shorten their lifespan?
“Patients can’t die overnight just because they don’t have a certain drug. Iron accumulation in the cells is a long process. But if they fail to take the drugs or have a blood transfusion on a long-term period, it can lead to premature death”.
He reiterated that for patients to lead a full life they required to take their blood transfusions and drugs on a regular basis. “If they take their blood transfusions regularly they can live upto 20 years, even without drugs. But our patients don’t do this. That is why most patients in Sri Lanka die before 20 years. Of course, it is not easy to have a blood transfusion every month, but they must comply with this requirement. So non-compliance to this basic requirement is the main cause for them dying prematurely”.
And patients who did comply with these requirements?
“They can live upto 50 or 60 years and above and lead normal lives, get married, become lawyers, engineers, doctors etc”.
He admitted, however, that administration of sub quality drugs for a long period could have adverse effects and lead to early death.
Currently Sri Lanka has an estimated 4% population with thalassemia. There are around 100 new patients born every month and an estimated 2,000 patients every year.
Each year the state is required to spend between 100,000 to 300,000 on a patient. This puts an unbearable burden on the government as all the drugs and transfusions are given free. What is important thus is prevention of the disease – through education and awareness raising”, he stressed.
Dismissing the popular belief that consanguinity or first cousin marriages are the underlying cause, he said, “While consanguinity is a risk factor for having thalassaemia babies, it is not the only cause. The main cause is conception between two carriers, which carries a high risk for resulting in them having a thalassaemia baby. So conception between two carriers (i.e. where the mother and father are both carriers) must be avoided at all costs. If a person knows he is a carrier, and wants to get married, he should get his future spouse to be tested to see if he/she is a carrier or not. If, on the other hand, you are not a carrier, then you needn’t worry about checking to see if your prospective bride or bridegroom is a carrier, as both should be carriers to produce a thalassaemia baby.”
However, he also pointed out, “In a conception between two carriers usually only about 25% of babies get thalassaemia. According to our statistics, we can assume that every year, we have about 400 conceptions between two carriers resulting in around a 100 births of thalassaemia babies. Hence we can assume there are about 200 such high risk marriages between two carriers happening every year. This is the group we should target so as to prevent these marriages taking place. And for this, I reiterate, testing the blood of your future partner is important if you are a carrier, to rule out that the latter is not a carrier as well”.
Do you recommend that testing be mandatory?
No. It has to be a responsible decision. My message is: “If you are a carrier then don’t take the risk of marrying another carrier. The only way to know this is by getting your would be partners for life tested before marriage”.
The Nation also spoke to Professor Priyani Soysa, Consultant Paediatrician, who was among the pioneers to have raised awareness on Thalassaemia in the late 50’s while working at the Kurunegala hospital. “It was the late Professor C.C. de Silva who observed the disease in the 1940’s. Then when I had many babies and older patients coming to the hospital for treatment, I began an awareness raising programme, to discourage consanguinity which I found was one of the leading causes for the disease
Not all first cousins marriages result in thalassaemica babies. But those who have minor thalaessemia which is a recessive disorder can result in major disorder when blood cousins marry.”
She too says that testing should not be mandatory as it will be infringing on Human Rights.
“On the other hand, people must be made aware and educated on the disease, so that one carrier will not marry another carrier of the disease”.
Courtesy by: cnylink.com
Thirteen-month-old Sophia Stagnitta, of East Syracuse, will grow up receiving blood transfusions.
Little Sophia was diagnosed with Beta-Thalassemia Major, also known as Cooley’s Anemia, when she was 11 days old, her mom Jennifer said last week at Skaneateles High School. Jennifer and Sophia were in town for a blood drive being held in Sophia’s honor at the school where her dad, Scott Stagnitta, is a middle school teacher.
Beta-Thalassemia Major is a genetic blood disorder that prevents or greatly reduces the body’s ability to produce adult hemoglobin and causes anemia, which is a lack of iron.
Jennifer said Sophia thankfully has not had to have any blood transfusions yet, but each month the family goes to University Hospital’s Pediatric Hematology/Oncology department to have the toddler’s hemoglobin level tested.
“Her hemoglobin level has been up and down, but in the normal range,” Jennifer said.
While Sophia’s levels have fluctuated between 10 and 11, once the levels drop to a 6 or 7, she will need at least one transfusion each month. But with transfusions also come more concerns as receiving blood can cause an iron overload, which in turn will mean Sophia will have to endure therapies to remove iron from her blood. The two methods of removing iron are either through taking a pill orally, but not everyone can take it, or through a method called Chelation Therapy, which requires a needle to be inserted into the body to aid in removal of heavy metals.
“The only way to cure this is a bone marrow transplant,” Scott said, but even then the marrow has to be an identical match from a sibling.
The entire process for a bone marrow transplant would be seven months or more.
“If we were going to do it that way, they want to do it while she’s young,” Scott said.
The younger she is, the less likely it will be that her blood is overloaded with iron, and she would have to be closely monitored.
One issue that stands in the way of even looking into bone marrow transplant is Sophia is Scott and Jennifer’s first child — she has no siblings to be matched to.
“We definitely want another child,” Jennifer said, adding she and Scott have met with a genetic counselor and are aware there is a 25 percent chance of having a second child with Beta-Thalassemia Major. “It’s a lot to think about.”
According to Jennifer, after being diagnosed, her hematologist said Sophia may need her first transfusion at 6 months old but has been fortunate to come this far without having to receive blood.
“I think the hardest part is looking at her and knowing something is wrong,” Scott said.
But for the unknowing person to look at Sophia, she appears to be a normal, active and perfectly healthy 1-year-old. She’s full of energy and on target as far as height, weight and other such benchmarks.
“She’s very active. You’d never know what’s going on,” Jennifer said.
While the blood disorder is rare in the United States and Canada with only around 700 people being affected by it, Jennifer said that’s not the case in places like Italy where a large portion of the population has some form of Thalassemia. Both Jennifer and Scott are of Italian descent and therefore there was a chance they may pass the disorder on to Sophia.
There was no prenatal screening for the disorder or much reason for concern when Jennifer was pregnant, though, as both parents are young and in good health.
For the time being, the young family is living life as normal with a monthly trip to the hematologist.
“We’ll try to keep it normal for her,” Jennifer said.
One thing they have learned is not to dwell on it. Another is to be thankful for things like the Red Cross blood drive on Thursday, where there was an overwhelming amount of support from the community for Sophia.
Sophia may not receive blood donated last week by Skaneateles’ teens and teachers, but the donations will help replenish the blood supply and will go to those who need blood now.
According to statistics from the American Red Cross, at some point in our lives, 80 percent of us will require a blood transfusion and only 4 percent of eligible donors donate.
“We’re honored they would think of Sophia,” Jennifer said.
Courtesy by: cjournal.concordia.ca
With major research grants, high profile conferences and cutting-edge facilities, it’s clear that Concordia is making a mark on Canadian scientific research.
Assistant professor Peter Pawelek from the Department of Chemistry and Biochemistry was recently awarded a two-year grant from the Thalassemia Foundation of Canada and is very pleased with the way the university has facilitated his work.
“I’m excited to see where this research will take Concordia in terms of opening doors for the development of therapeutics,” he said.
Pawelek’s new funds will go towards research into cell-surface receptors and pathogens, which could help patients with thalassemia, a blood disease that is prevalent in Mediterranean, Arab and Asian populations.
The genetic condition leads to a deficiency in hemoglobin, which normally binds iron. This causes excess iron to build up in the bloodstream, which in turn can cause tissue and organ damage and other complications.
“Usually pathogens have difficulty obtaining iron from a host,” Pawelek explained. “When that limiting factor is taken away and you have too much iron, patients are more at risk from bacterial infections.”
One of the therapies to treat thalassemia involves iron chelation, in which a drug such as Desferal is administered through a transfusion to bind iron and remove it from the body.
However, some highly virulent and lethal bacteria, such as Vibrio vulnificus, have protein receptors that can recognize and take up iron-bound Desferal, hijacking the drug and compounding the risk of infection.
“If we can understand the shape of the binding pocket of the receptor, we could one day be able to design a molecule to fit in that receptor, acting as a kind of monkey wrench to throw into the system,” Pawelek said.
The first step will be to isolate the cell-surface receptor, purify it and grow crystals of it. Next, Pawelek’s group will be able to characterize the three-dimensional protein structure using X-ray crystallography.
Having a better understanding of how bacteria manipulates Desferal can have implications beyond thalassemia since it is widely prescribed for other iron-overload diseases and some forms of cancer.
“We’re hoping that our work will lay the foundation for us to move forward and continue this research beyond two years,” he said. “And ultimately produce a therapeutic agent that can help people.”
Pawelek also directs a separate NSERC-funded research program that investigates how bacteria use molecules called siderophores to acquire iron. This research recently led to an article published in the Journal of Molecular Biology.
He is also busy organizing the tenth annual PROTEO symposium at Concordia in May, which will bring together protein scientists from the Quebec Research Network on Protein Function, Structure and Engineering. Internationally renowned researchers have also been invited to present their work.
“Concordia is really on the map now in terms of being a meaningful presence in the biosciences community,” he said.
Courtesy by: koreatimes.co.kr
The government is set to expand its support for patients suffering from rare diseases, the Ministry for Health, Welfare and Family Affairs announced Monday.
The ministry said 21 more diseases will be added to its list of those covered by free medical care.
Beneficiaries will be patients whose family’s income is less than 4 million won per month, with their assets amounting to less than 200 million won.
One such affliction is thalassemia, an autosomal recessive blood disease that results in severe cases of anemia.
The patients usually need to receive blood transfusions and iron chelation therapy among other treatments, which can sometimes be risky, experts say.
The disease most often inflicts people in the Mediterranean region and parts of northern Africa, but in Korea, their number is estimated to be around a few hundred.
Other rare diseases included on the list are Kufs’ Disease, Nieman-Pick Disease and Krabbe Disease.
The Korea Center for Disease Control and Prevention said the new coverage will benefit some 7,000 people.
Currently, the National Health Insurance Corp. supports 28,900 patients suffering from 111 rare and hard-to-treat diseases.
“The government will cover not only expenses for treatment but provide them with pieces of medical equipment that are essential for walking, breathing and other aids to help them conduct their daily activities. Those with muscle disorders will also receive care by visiting nurses free of charge,” center official Ku Soo-kyeong said.
More information about rare diseases and governmental support for them is available at http://helpline.cdc.go.kr.
Day 1: Conference Inauguration – Pearl Continental Hotel, Lahore
Ceremony started with Tilawat-e-Quran at 4 pm, Mr. Hussain Jafri, Secretary General TFP Punjab Chapter gave Welcome Address, and Dr. Yasmeen Rashid Secretary General TFP gave introduction of TFP.
TFP was established in 2004, Thalassemia patients registered with TFP are 25000, 39 NGOs working with TFP till date.
Prevention program being designed and developed by the help of WHO.
More than 15 billion are being subjected for the prevention by Punjab Government.
Mr. Iqbal, TFP Exec. Comm. Member being called to let us know the feedback of a Thalassemic parent, Dr. Jovaria Manna, Chairperson, Medical Advisory Board briefed us about scientific sessions and workshops of the next two days.
Dr. Jovaria informed us about Uniform Protocol, book on iron chelation therapy guideline which she has edited and being distributed all over Pakistan.
Mr. Iqbal told us about his blood bank and Thalassemia center, which is in Karachi and working successfully.
Address by Guest of honor Prof. Majeed Chaudhry, Principal, FJMC & Prof. Humayun Maqsood, Principal, FMCMD.
Both of them appreciated TFP’s work and event and and promised to support conference by all means.
Lt. Gen (R) Moin-ud-din Haider, President TFP thanked all for attending, requested for moral and monetary support for TFP and societies, told us about government being concerned in Thalassemia issue these days and gave shields to the mentioned below patients on their achievements.
1) Ayesha Murtuza from Abbotabad – LLB
2) Laiba Mukhtar from Lahore – 3rd position in Inter & 1st in I.COM
3) Master Abdul Samad – 5th passed Hafiz-e-Quran
4) Mujtaba Shareef – Hafiz-e-Quran
5) Miss. Atiya Kamran from Karachi – Inter pass, married
6) Mr. Ejaz Haider from Karachi – Volunteer for Fatimid
7) Ameen Tipu – Earning, married & have two kids
8) Usman – Hafiz-e-Quran
– End of day 1 –
Day 2: Patient Safety Awareness Workshop in Collaboration with World Health Organization – Fatima Memorial College of Medicine & Dentistry, Lahore
Started at 9:30 am with Tilawat-e-Quran, Dr. Yasmeen Rashid gave briefing over the workshop objectives; workshop was conducted by WHO on their World Alliance Of Patient Safety.
She briefed about iron chelation, transfusion, screening, hepatitis, aids, etc.
She even requested the NGOs to care about screening, cleaning and hygiene.
Later on Mr. Hussain Jafri briefed us about World Alliance of Patient Safety program.
WHO launched this program in October 2004.
Programs started under World Alliance:
1) Patients for patient safety
2) Patient safety research
3) WHO patient safety campaigns
4) Education and training
5) Implementing change
You can read about IAPO – International Alliance of Patients Organization at their website: IAPO
After Mr. Hussain, Dr. Jovaria came on dice to give us guidance over Patients Safety, she told us a patient should be aware of everything, he should ask the nurse while getting transfuse about screening, blood bag details, make sure that blood belongs to him, patient should get vaccination done, she even advice to get splenotomy done by good doctor not by any general surgeon.
After Dr. Jovaria, Question and Answer session was conducted, followed by panel-list of three doctors, three society member and three patients.
I was given the chance to be among the three patients, was given chance to brief over my activities and Thalassemia.com.pk, which got appreciated by all the people attending.
– End of day 2 –
Day 3: Prevention & Treatment of Hepatitis B & C of Patients Receiving Multiple Blood Transfusions – Fatima Jinnah Medical College, Lahore
Day 3rd was a bit hard to manage, as there were two things going on side by side at the same timings, one side conference over Hepatitis, other side scientific sessions over exjade, prevention & genetic counseling.
Not much new was being told, but there was a session which I wanted to attend badly and I have made notes of it, sharing it with you
Management of Pregnancy in Thalassemia Major – Dr. Yasmeen Rashid:
Patient who want to start new family should work hard to get her ferritin as low as 500, and must maintain her hemoglobin at 10 – 11 gram.
Pre Pregnancy Counseling:
Iron chelation is discontinued for 9 months
Pre Pregnancy Evaluation:
Cardiac, Liver, Vessels, Pancreas, Viral Infection, Iron Status – all things should be monitored closely.
1) Iron should be around 300 to 500 for better health of baby.
2) Hemoglobin should be maintained at 10 – 11 gram.
3) Low blood transfusion, small quantity every 10 to 15 days to give enough oxygen to the body.
4) Vital signs should be monitored during transfusion.
5) Discontinue iron chelation.
6) Continuous check on ferritin level.
7) Cardiac monitoring every 3 months.
8) Endocrine function, oral glucose test should be done
9) Last but not the least, Best doctors!
Effects on the fetus if anything is wrong:
1) Fetal Hypoxia
3) Premature Labor
4) Fetal Demise
One should wait for normal delivery to happen, but as it takes lots of efforts/energy so the patient should be monitored closely for cardiac functions.
In case of IUGR or Fetal distress cesarean should be performed.
Iron Chelation should be started within the first week after delivery.
– End of day 3 –
Note: I have made notes of my interested topics only, but I have attended almost every session… If you want to know about anything kindly drop a comment I will try to respond as soon as possible… But to be frank there wasn’t much new knowledge to hear.