World Thalassaemia Day 2019: What is Alpha 

Thalassemia vs Beta Thalassemia? Symptoms

World #Thalassaemia Day 2019: What is Alpha #Thalassemia vs Beta #Thalassemia? Symptoms

International #Conference on #Genetic_Disorders and #GeneTherapy

#August 26-27, 2019 #Bangkok, #Thailand

Theme: Current research and futuristic challenges in Genetics

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Email us: geneticdisorders@expert-meetings.com

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What is Thalassemia? What are the signs and symptoms of Thalassemia?

Thalassemia is a genetic blood disorder characterized as abnormal or inadequate amount of haemoglobin due to certain mutations in the gene. Most often a child with thalassemia will show symptoms like fatigue, weakness, slow growth, poor appetite, and anaemia. The treatment lies in blood transfusion which is both an emotional and financial burden on the family.

Thalassemia, which is currently categorised under rare disease, is actually not rare anymore, said Dr VL Ramprasad, COO at MedGenome Labs, and a scientist with several peer-reviewed publications to his credit. The incidence rate of thalassemia in India has made it the most common genetic blood disorder. As per reports, on an average, each year over 10,000 children are born with thalassemia and around 3-4% of people are carriers among the population. Hence, the need of the hour is the awareness of comprehensive genetic testing for both parents. 

Types of Thalassemia

There are primarily two types of thalassemia which are caused due to mutations in the hemoglobin molecules -Alpha globin and Beta globin.

Alpha thalassemia: Alpha thalassemia is characterised when an individual lacks control over the production of his alpha globins.

Beta thalassemia: Beta thalassemia occurs due to overproduction of beta globins. On a much simpler note, it significantly depletes the production of haemoglobin that is responsible for transmitting the oxygen (by the means of RBC) throughout the body.

Beta thalassemia is classified into two types: thalassemia major (also known as Cooley’s anemia) and thalassemia minor.

Of the two types, thalassemia major is more severe. Babies with thalassemia major often seem healthy immediately after birth but start to develop symptoms within the first 2 years of life. This condition causes severe symptoms with life-threatening anaemia that requires regular blood transfusions. Thalassemia minor, on the other hand, occurs when one of the globin chains is mutated. People with this condition typically have very mild symptoms and require no treatment, but they can pass thalassemia on to their children.

Pre-natal testing and carrier screening for couples

Experts stress upon the need for a pre-natal testing and carrier screening for couples that will help identify the mutations, which is key to prevent thalassemia cases in India. With the advancements in technology, it has become easier for patients to undertake a genetic test. The Next Generation sequencing has paved the way for quicker testing of the genes and provide insights, which were otherwise difficult to obtain, added DR Ramprasad.

Further, this aids in providing an accurate diagnosis of the diseases. Additionally, a pre-implantation genetic diagnosis (PGD) for couples undergoing IVF (in-vitro fertilisation) and are at risk of having children with thalassemia can turn out to be insightful. This coupled with awareness about genetic testing will enable early diagnosis and help in deciding the course of treatment and management.

Meanwhile, the Centre has prepared a draft policy on compulsory genetic screening for all women to prevent inherited (genetic) disorders, focusing on hemoglobinopathies has also helped raise the necessary awareness of genetic disorders. It suggests that if a woman is identified as a carrier the husband will be screened. If both parents are found to be carriers, prenatal diagnosis has to be offered to ensure that the baby is not affected by serious hemoglobinopathy.

Hemoglobinopathy is a group of blood disorders and diseases that affect red blood cells. A study published in the International Journal of Medical Science & Public Health found that the most prevalent hemoglobinopathies in India are thalassemia and sickle cell anaemia.

While the policy is drafted, it is evident that the implementation has not started yet. There can be many operational reasons, but once started, it will be a big leap in the direction of curbing hemoglobinopathies in India. The next step is to motivate couples and people with a family history of diseases to undergo a genetic test.