Thalassaemia (a.k.a. Mediterranean anaemia) refers to a group of genetically inherited blood disorders characterised by defective haemoglobin production. Haemoglobin is the oxygen-carrying pigment in red blood cells, responsible for distribution of oxygen throughout the body. Different types of thalassaemia are categorised according to the type of genetic defect. Haemoglobin structure depends on instructions found in our genetic code. Hundreds of alterations of this code (mutations) have been associated to disease-causing effects on the production of haemoglobin. Beta-thalassaemia is the predominant type of thalassaemia in Malta.
In most symptomatic patients, the type and amount of mutations determine the severity of the condition. The more common symptoms include typical signs of anaemia: fatigue, weakness, shortness of breath and pale/yellowish (jaundiced) appearance. Affected infants are diagnosed due to slow growth and impaired development. If left untreated, bone deformities may arise as well as a series of secondary complications including debilitating heart problems. Patients are treated by four to six weekly blood transfusions and chelation. The latter is needed to remove extra iron from transfused blood, which the body cannot eliminate on its own. Such lifesaving regimens are cumbersome and resource consuming. The broad extremity of symptoms cannot be explained entirely by known differences in genetic code and/or compliance to treatment.
In Malta, Beta-thalassaemia patients attend Mater Dei Hospital’s Thalassaemia Clinic, where a dedicated team coordinates their clinical management according to a rigorous protocol.
A clinical performance index that describes the general well-being of a patient in view of the amount of blood transfused has been developed as part of a recent study. The researcher also started to investigate ways by which the response to alternative treatment that minimises dependence on blood transfusions could be predicted. This would considerably improve patients’ quality of life and decrease the demand from an already short blood supply. This research revolved around an investigation of the relationship between causative genetic mutations, transfusion requirements and the potential inhibitory effect of inflammation on the response to alternative therapy.
Using cutting-edge technology, made available at the University of Malta and at Mater Dei Hospital, it was concluded that all patients seem to benefit from current treatment. Inflammation does not seem to be particularly problematic in the existing treatment protocol. However, further research is warranted in identifying ways to assess the response to other types of therapy.
Charmaine Vella, a medical laboratory scientist by profession, has conducted this research in partial fulfilment of a Master’s degree in Biomedical Sciences (Haematology) at the Faculty of Medicine and Surgery (University of Malta) under the supervision of Professor Alex Felice. The results from this study have laid the foundation for further studies on monitoring and improvement of response to alternative therapy. The Malta Government Scholarship Scheme (MGSS) for post-graduate studies funded the project. Ms Vella was awarded a MSc (Melit.) degree with Distinction November 21, 2018.
Did you know?
• Wolves now outnumber the residents of Chernobyl. Wildlife overall in the area is now flourishing due to the lack of human interference and competition.
• In 1965, a patent was filed for a ‘birthing apparatus’ which would spin pregnant women around at as much as 7G until their baby was flung out from the centrifugal force.
• Before the internet, chess players worldwide used to play each other by taking turns mailing a postcard to each other describing the move they had made.
• Most pencils are yellow because in the 1880s one manufacturer chose that colour to indicate they were luxury pencils.
• Any word, when repeated multiple times consecutively, loses its meaning and starts sounding weird. This is called semantic satiation. It happens because the brain ceases to recognise it as a word and breaks it down into sounds.
• Of all the scientists who have ever existed throughout history, 90 per cent are alive right now.
For more trivia see: www.um.edu.mt/think
Sound bites
• Years before symptoms of Alzheimer’s disease manifest, the brain starts changing and neurons are slowly degraded. Scientists from Germany published an article in Nature Medicine which shows that a protein found in the blood can be used to precisely monitor disease progression long before first clinical signs appear. This blood marker offers new possibilities for testing therapies.
https://www.sciencedaily.com/releases/2019/01/190121115401.htm
• Himalayan marmots can survive at altitudes up to 5,000 metres in the Himalayan regions of India, Nepal and Pakistan and on the Qinghai-Tibetan Plateau of China, where many of them face extreme cold, little oxygen and few other resources. Now, researchers have sequenced the first complete Himalayan marmot genome, which may help them to better explain how the marmots live in such extremes.
https://www.sciencedaily.com/releases/2018/12/181220122613.htm
For more soundbites listen to Radio Mocha: Mondays at 7pm on Radju Malta and Thursdays at 4pm on Radju Malta 2 https://www.fb.com/RadioMochaMalta/