Adeno-associated virus as a delivery vector for gene therapy of human diseases
Research Improves Diagnosis Of Genetic Blood Disorder Beta-thalassemia
Doctors examine biomarkers in blood to determine health status. These molecules can indicate if any abnormal processes are taking place, which could point to a disease. However, the process behind blood measurements is highly complex and the results can vary considerably between different methods and laboratories. This poses a major challenge for diagnosis or therapeutic intervention.
To help standardize blood tests carried out by laboratories, the JRC develops clinical certified reference materials (CRMs). These control materials form the basis for reliable and stable clinical measurements.
A CRM typically comes in a "bottle," a sample with a known quantity of what is being measured, like a gold standard for laboratory tests. When laboratories use these CRMs, they can be confident that their results are correct and precise.
The JRC has now released a new CRM to aid the fight against beta-thalassemia. This genetic blood disorder reduces the production of hemoglobin, the iron-containing protein in red blood cells carrying oxygen throughout the body.
It can lead to severe anemia and may require patients to receive lifelong blood transfusions. In extreme cases, untreated beta-thalassemia may lead to death.
The disease occurs worldwide but is more prevalent in Mediterranean countries. In Italy, around 6% of the population carries the gene, in Greece 8.1%, and in Cyprus 12%.
Detecting beta-thalassemiaBeta-thalassemia is passed down from parents who may not even know they carry the gene, because they may not have any symptoms. However, if both parents carry the gene, their child may suffer from the disease.
Healthy carriers and patients have higher levels of a specific type of hemoglobin called HbA2. To identify potential carriers, HbA2 tests are used to screen couples that plan to have children. If both prospective parents are carriers, they can opt for further prenatal screening or preimplantation genetic testing to see if their child may be affected.
Existing tests are not accurate enough to always identify carriers and diagnoses can differ depending on the testing kit used. The JRC has now developed two new reference materials that manufacturers can use to improve the accuracy of their beta-thalassemia tests.
These CRMs fine tune the existing tests and help eliminate any disagreement between test results, regardless of the brand of testing kit used. These materials are the first internationally available CRMs developed to help identify carriers and patients with beta-thalassemia and are an important step forward in the fight against the disease.
How JRC guarantees reliable blood analysisThe JRC has decades of experience in producing clinical CRMs for a variety of purposes, from standard blood tests to detecting chronic diseases, such as Alzheimer's and diabetes.
For example, in 2017, the JRC released a CRM for cerebrospinal fluid biomarkers. This fluid is very valuable because it is in direct contact with the brain and can reflect biochemical changes associated with Alzheimer's disease.
As such, the CRM enables earlier and more accurate detection. The JRC is currently developing two additional CRMs to further improve the detection of Alzheimer's disease.
In addition, the JRC is developing a CRM for celiac disease, a chronic immune disorder triggered by gluten ingestion. This will be the very first CRM for this disease.
Provided by European Commission, Joint Research Centre (JRC)
Citation: Research improves diagnosis of genetic blood disorder beta-thalassemia (2024, October 14) retrieved 21 September 2025 from https://sciencex.Com/wire-news/490350293/research-improves-diagnosis-of-genetic-blood-disorder-beta-thala.Html
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JRC Releases A New CRM To Aid The Fight Against Beta-thalassemia
Our blood is a window to our health. Doctors examine biomarkers in our blood to determine our health status. These molecules can indicate if any abnormal processes are taking place, which could point to a disease. However, the process behind blood measurements is highly complex and the results can vary considerably between different methods and laboratories. This poses a major challenge for diagnosis or therapeutic intervention.
To help standardize blood tests carried out by different laboratories, the JRC develops clinical certified reference materials (CRMs). These control materials form the basis for reliable and stable clinical measurements. A CRM typically comes in a 'bottle', a sample with a known quantity of what is being measured, like a gold standard for laboratory tests. When laboratories use these CRMs, they can be confident that their results are correct and precise.
The JRC has now released a new CRM to aid the fight against beta-thalassemia. This genetic blood disorder reduces the production of haemoglobin, the iron-containing protein in red blood cells carrying oxygen throughout the body. It can lead to severe anaemia and may require patients to receive lifelong blood transfusions. In extreme cases, untreated beta-thalassemia may lead to death.
The disease occurs worldwide but is more prevalent in Mediterranean countries. In Italy, around 6% of the population carries the gene, in Greece 8.1%, and in Cyprus 12%.
Detecting beta-thalassemiaBeta-thalassemia is passed down from parents who may not even know they carry the gene, because they may not have any symptoms. However, if both parents carry the gene, their child may suffer from the disease.
Healthy carriers and patients have higher levels of a specific type of haemoglobin called HbA2. To identify potential carriers, HbA2 tests are used to screen couples that plan to have children. If both prospective parents are carriers, they can opt for further prenatal screening or preimplantation genetic testing to see if their child may be affected.
Existing tests are not accurate enough to always identify carriers and diagnoses can differ depending on the testing kit used. The JRC has now developed two new reference materials that manufacturers can use to improve the accuracy of their beta-thalassemia tests. These CRMs finetune the existing tests and help eliminate any disagreement between test results, regardless of the brand of testing kit used. These materials are the first internationally available CRMs developed to help identify carriers and patients with beta-thalassemia and are an important step forward in the fight against the disease.
How JRC guarantees reliable blood analysisThe JRC has decades of experience in producing clinical CRMs for a variety of purposes, from standard blood tests to detecting chronic diseases, such as Alzheimer's and diabetes.
For example, in 2017, the JRC released a CRM for cerebrospinal fluid biomarkers. This fluid is very valuable because it is in direct contact with the brain and can reflect biochemical changes associated with Alzheimer's disease. As such, the CRM enables earlier and more accurate detection. The JRC is currently developing two additional CRMs to further improve the detection of Alzheimer's disease.
In addition, the JRC is developing a CRM for celiac disease, a chronic immune disorder triggered by gluten ingestion. This will be the very first CRM for this disease.
The Hidden Code: Why Genetic Testing Could Be A Lifesaver
When 35-year-old Rajesh (name changed) collapsed during a morning jog, his family was stunned. Fit, vegetarian, and with no known history of heart disease, he seemed the picture of health. But a genetic test — done weeks later — revealed the truth: a rare inherited condition called familial hypercholesterolemia, which silently raises cholesterol levels and heart attack risk, even in young adults.
"I wish we had known earlier," says his wife. "He had no symptoms. No warning. Just one test could have changed everything."
When 42-year-old Anjali (name changed) underwent a routine health check-up, she didn't expect her doctor to recommend a genetic test. With no major symptoms and no known family history of disease, she hesitated. But the results revealed a BRCA1 mutation — an inherited genetic variant that significantly increases the risk of breast and ovarian cancer.
That one test may have saved her life. Her story is part of a growing wave of awareness across India, where genetic testing is emerging as a powerful tool for early disease detection, personalised treatment, and preventive care.
From cancer and cardiac conditions to rare disorders and drug sensitivities, genetic insights are reshaping how medicine is practised.Across India, thousands live with hidden genetic risks — like hereditary cancers, cardiac disorders, and drug sensitivities — that don't show up in routine check-ups. Many genetic conditions go undetected due to a lack of awareness, limited access, and stigma.
Conditions like familial hypercholesterolemia, thalassemia, and inherited neurological disorders are also more common than previously thought.
For instance, newborn screening allows early detection of genetic and metabolic disorders. The result: timely intervention and improved health outcomes.
Many people delay testing because they feel healthy, fear the results, or assume it's too expensive. Genetic conditions often strike without warning. By the time symptoms appear, it may be too late for prevention.
In a recent case, a teenager was diagnosed with a rare neurological disorder—after years of misdiagnosis. A simple genetic panel could have identified the condition early.
India is at a turning point. With rising rates of cancer, diabetes, and heart disease, genetic testing must become part of routine care. We need awareness, access, and affordability. In Kerala, where consanguineous marriages and inherited disorders are more common, genetic screening is especially vital.
A quick look at the basics:What is genetic testing, and why is it gaining traction in Kerala?Genetic testing involves analysing DNA to identify changes that may cause inherited conditions. In Kerala, we are seeing a surge in interest due to increased awareness, better access to advanced technologies like next-generation sequencing (NGS), and a growing demand for personalised care.What are the main applications of genetic testing?Diagnosis and preventionPersonalised medicine: Genetic testing helps tailor drug selection and dosage for optimal efficacy and minimal side effects.Gene therapyCancer: Identifying mutations helps in developing targeted therapies
What are the primary ethical considerations?Informed consent: Ensuring patients understand the scope, limitations, and implications of testingRobust legal and regulatory frameworks: To safeguard patient privacy and prevent misuse of genetic data.Equity and access: The high cost of genetic testing and personalised treatments can create disparities in healthcare access. Ensuring equitable access for all patients, regardless of socioeconomic status, is a major ethical concern.
How is genetic testing transforming the
treatment of cancer?It is revolutionising cancer care by enabling a shift from reactive treatment to proactive, precision-driven strategies. In terms of early detection, it helps identify individuals with inherited mutations — those who are at elevated risk for specific cancers.
For risk assessment, genetic testing provides a molecular blueprint that goes beyond family history. It empowers clinicians to stratify patients based on genetic susceptibility, guiding surveillance and lifestyle recommendations tailored to their genomic profile.
One of the most common misconceptions is that cancer is either entirely random or entirely inherited. In reality, it's more nuanced.
The vast majority of cancers—over 85%—are sporadic, meaning they arise from acquired mutations due to ageing, environmental exposures, or lifestyle factors. On the other hand, about 5 to 10 per cent of cancers are hereditary, caused by inherited mutations in genes — genetic changes passed down from parent to child. These mutations are present in every cell of the body and can predispose individuals to certain types of cancer.
Are there any risks?It is a myth that genetic testing is invasive or unsafe. The fact is that most tests require only a blood or saliva sample. They are safe, confidential, and increasingly accessible.
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