facebook event for thals

  • 2 Replies
facebook event for thals
« on: February 18, 2011, 06:47:23 PM »

Time Thursday, February 17 · 7:30pm - 9:30pm

Location Inspirations! Cafe, St. James Cavalier, Valletta.

Created By Malta Cafe Scientifique, Edward Duca

More Info Each year 300,000 people are born with Thalassaemia. People with Thalassaemia have defective haemoglobin which carries oxygen in blood. Thalassaemia sufferers have low oxygen levels and require regular blood transfusions. This talk will take us through the story behind a breakthrough that can make these transfusions a thing of the past. This finding was discovered due to research on a Maltese family that was performed by Maltese scientists. They found a faulty gene which can raise foetal haemoglobin levels. This increases the level of oxygen in the blood and can potentially cure Thalassaemia in millions.

Speaker: Dr. Joseph Borg
Date: 7.15pm (Talk starts 7.30), 17th February 2011
Logo: Sonya Hallett
Poster Design: Sarah-Jane Vella 

Re: facebook event for thals
« Reply #1 on: February 18, 2011, 06:50:04 PM »
Defect in Maltese family sheds new light on anemiaErasmus MC researchers have made a breakthrough in the research on hereditary anemia, a condition in which oxygen in the blood is not optimally transported. The researchers have discovered that they can improve the oxygen transport by treating a specific protein. They discovered this thanks to a Maltese family with a defect on this protein.

They will publish their findings in the August edition of the leading journal Nature Genetics. The breakthrough opens new perspectives for the treatment of people with hereditary anemia.

Every year, 300,000 new patients are born worldwide. Also in the Netherlands hereditary anemia is increasingly prevalent. It mainly affects people (and their children) originating from countries situated near the Mediterranean Sea. They suffer from chronic anemia and regularly have to undergo blood transfusions. Hereditary anemia includes serious disorders such as sickle cell anemia and thalassemia. Red blood cells are deformed in people with sickle cell anemia and this can result in clogged blood vessels. The abnormality can also cause damage to organs. Red blood cells do not work properly in people with thalassemia and are therefore broken down more quickly resulting in patients suffering from severe anemia. Erasmus MC now has a dedicated sickle cell outpatient clinic for these patients.

The breakthrough in the research is partly due to a Maltese family. The KLF1 blood protein is less active in many members of this family. This protein regulates the production of the oxygen carrier hemoglobin. The defect within the family appears to have a beneficial side effect, namely, their blood is more capable of absorbing and transporting oxygen. This discovery could be the key to improved treatment of hereditary anemia. “If patients were to have the same KLF1 protein as the Maltese family the transportation of their oxygen would then improve. This would greatly reduce the symptoms of their disease. They may possibly be able to live a life without blood transfusions”, according to Sjaak Philipsen, researcher at Erasmus MC’s Cell Biology department.

The production of hemoglobin in the Maltese family is similar to that of unborn babies. Because babies take oxygen from their mother’s blood they produce a type of hemoglobin that binds to the oxygen better than adult hemoglobin. When the KLF1 blood protein is less active (as is the case in the Maltese family) more so-called fetal hemoglobin (HbF) enters into the blood resulting in improved uptake and transport of oxygen.

The researchers have already succeeded, in the laboratory, in changing the protein in human cells so that they show the same characteristics as the protein in the Maltese family. This is a major breakthrough, long-awaited by scientists worldwide. Philipsen: “Applying new techniques has made this possible. Five years ago we would not have been able to achieve this result. Follow-up research will enable us to determine whether it is also possible to change the protein in patients in such a  way that the uptake and transport of oxygen can be improved.”

Date published: 4 August 2010

Re: facebook event for thals
« Reply #2 on: February 18, 2011, 06:51:23 PM »
anybody going?


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