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Thalassemia and Sickle Cell Anemia are among the most common inherited single-gene disorder in the world. They affect hundreds of thousands of babies each year. It is also estimated that between 300,000 and 400,000 babies born each year have severe hemoglobin disorders globally. These conditions also have a lifelong health implication. However, with awareness, testing and medical advancements, they can be managed and prevented.
Beta Thalassemia is a genetic blood disorder which is caused by a mutation in the beta globin gene. This gene is also essential for the production of normal hemoglobin. This is the protein in red blood cells that are responsible for carrying oxygen from the lungs to the rest of the body. Every person has two copies of the beta globin gene.
If one of these genes is mutated, the person becomes a carrier, also known as having thalassemia minor. Carriers generally do not show any symptoms and have mild anemia, with their hemoglobin levels around 9d/dl and smaller red blood cells.
However, if both genes are mutated, the child could have thalassemia major, a severe form of disease. The symptoms usually appear around six months of age. The children suffer form chronic anemia and require lifelong, regular blood transfusion.
Carrier detection is possible with a complete blood count and a test called High Performance Liquid Chromatography (HPLC). Indicators include:
Once confirmed, genetic testing can identify the specific mutation in the family, helping with future planning and prenatal testing.
There are three main options that can help one manage thalassemia, which includes:
Regular Blood Transfusions and Iron Chelation Therapy
Transfusion happens every 3 to 4 weeks, which helps in maintaining hemoglobin levels and support normal growth. However, each transfusion adds iron to the body, which can then damage vital organs. Thus, iron chelation, using oral medication like Deferasirox, or injections like Desferal, which are necessary to remove the excess iron.
Hematopoietic Stem Cell Transplantation
Also known as bone marrow transplant, this is currently the only curative treatment. If a child has a healthy HLA-matched sibling donor, stem cells can be transplanted after destroying the patient’s defective immune system. The success rate is 85%, though complications like graft-versus-host disease (GVHD) may occur. Programs like Coal India’s CSR initiative support patients with financial aid up to ₹10 lakh.
Gene Therapy
This advanced treatment involves repairing or replacing the faulty gene in the patient's own stem cells. Although it is still in the early stages and is currently available abroad at a cost of around $2 million.
India bears a high burden of beta thalassemia and sickle cell disorders. Around 3–4% of the population — approximately 35 to 45 million people — are estimated to be carriers. The prevalence is higher among certain ethnic and tribal groups (up to 17%).
Data from Maharashtra and Gujarat shows varying carrier rates between districts, with the expected rate of affected babies ranging from 0.28 to 0.39 per 1,000 births per year.
For a populous country like India, prevention is key. A National Thalassemia Control Programme can play a vital role by:
In parallel, ensuring access to safe blood transfusions and affordable iron chelation for affected children is crucial to improving quality of life.
(Credit-Canva)
Bathroom habits can reveal a lot about our health. While you may think of your bathroom routines as normal, even small and seemingly unimportant signs could lead to devastating diagnosis. When it comes to periods and menstruation related illnesses, many women are often dismissed regarding their concerns. The notion that pain and discomfort surrounding menstruation is normal and should be tolerated, has stopped many women from getting proper diagnoses.
Diseases like endometriosis, Uterine fibroids, Polycystic Ovarian Disorder/Syndrome (PCOS/PCOD) etc., affect many women worldwide, however the signs and symptoms of these diseases are often ignored or overlooked.
If you've noticed changes in your bowel habits, such as going to the toilet more or less often than usual, it might be time to see your doctor. The Endometriosis Foundation warns that this could be linked to an incurable condition affecting the bowel called Bowel Endometriosis.
Endometriosis, often shortened to "Endo," happens when tissue similar to the lining inside the womb starts growing outside of it. These growths, called lesions, can spread to many parts of the body. When these lesions affect your bowel or digestive system, it's called Bowel Endometriosis. The lesions can either stay on the surface of your bowel or grow deeper, causing a lot of discomfort and problems. This type of Endometriosis is most commonly found in the lower part of the intestine, where it can make it hard to empty your bowel.
Affecting many women globally, endometriosis is a chronic condition, with 190 million people experiencing it. It can cause extreme pain during periods, sexual intercourse, bowel movements, urination etc. The World Health Organization explains that the causes of endometriosis is still unknown and has no cure. The only relief people get is from managing the symptoms with medication and in some cases surgery.
Pain when you have a bowel movement is the most common sign that you might have bowel Endometriosis. In more serious cases, you might even see blood in your poop.
It's important to remember that the signs of bowel Endometriosis can be different for everyone. Some people might only have one or two symptoms, while others might experience many of them all at once.
The symptoms listed below are often linked to bowel Endometriosis, but this isn't a complete list. There might be other signs too:
If you're having unusual pain that makes it hard to do daily things like go to school or work, or if you notice changes in your periods or bowel habits, think about whether it could be Endometriosis or another problem. It's really important to talk to a doctor right away. When you do, make sure to mention Endometriosis and ask if you need to see a specialist. And remember, you always have the option to get a second opinion if you want.
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Being the leading cause of death worldwide, cancer diagnoses can change the trajectory of a person’s life. New cancer stats reveal that an estimate of 2,041,910 new cancer cases will be diagnosed in the US, and about 600,000 have been estimated to die due to the disease. As you may know, cancer is a generic term for a lot of different diseases that affect our health. A malignant cancer diagnosis means that there is a rapid growth in abnormal cell growth which can affect various parts of your body.
According to the World Health Organization, cancer causes nearly 1 in 6 deaths globally and had accounted for 20 million deaths in 2020. The question remains, has the advancement in research and public education helped lower cancer cases or recognized any concerning patterns?
New information from Cancer Research UK, looking at 50 years of health data, shows both good and bad news about cancer. On the one hand, the number of deaths from cancer has gone down by more than one-fifth, which is a positive sign. However, the number of people being told they have cancer has actually gone up by 50%, showing a worrying increase in new cases.
One of the most concerning things we're seeing is how much more young people, under the age of 50, are getting cancer. Specifically, for those between 20 and 49 years old, cancer rates have shot up by 23% since the 1990s. Scientists are now working hard to understand why this is happening and what's causing this significant jump in cancer cases among younger individuals. Several factors are being explored as likely contributors to the rise in early-onset cancers:
These lifestyle choices are strongly linked to the increase. Research into the rise of colon cancer among young people, for instance, revealed that more than a third of those studied were obese. It has been observed that individuals developing cancer at a younger age tend to have significantly higher rates of obesity compared to those diagnosed later in life.
The food we eat greatly affects our gut health. It's suggested that outside elements like microplastics or chemicals could be altering this balance, potentially contributing to cancer development. Experts stress how important it is to start healthy eating and exercise habits early. There's also a warning not to forget that certain drinks can be just as risky as unhealthy processed and sugary foods.
It's interesting to note that smoking is probably not the reason for the increase in cancer among young people. Experts have actually seen a drop in cancers linked to smoking across almost all age groups. This suggests that while smoking is a known cause of cancer, its decreasing popularity means it's not behind the current rise in cases among younger generations.
Despite more young people getting cancer, Cancer Research UK's report highlights that we are currently in a very positive time for cancer treatment. Thanks to advancements, one in two people diagnosed with cancer are now expected to live for at least 10 years. This is a huge improvement from the 1970s, when only one in four patients reached that milestone, showing great progress in saving lives.
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If you have ever had a migraine then you would know that it is not just a headache, but it comes in phases. It starts with you being sensitive to all noise, smell, and even taste, feeling a bit dizzy, and losing out on your energy. Then there is a throbbing pain, this is when you know your migraine has reached its peak.
There are four main stages of migraine, which starts from predrome, aura, headache, and then postdrome.
This stage is like a warning stage where there may be certain physical and mental changes. These include feeling tired, excessive yawning, food cravings, changes in your mood. You may feel low or irritated. Your body feels dehydrated and you might feel thirsty, have stiffness around your neck and may pass more urine.
This can last for 24 hours.
This happens to a third of people with migraine, notes The Migraine Trust. There are various neurological symptoms that happens in this stage, which includes changes in sight. This means, one may see dark spots, coloured spots or sparkles, often described as stars and zigzag lines. There could also be numbness, feeling like pins and needles on your body, you may also feel weakness, dizziness, and have problems with speech and hearing.
The Migraine Trust notes that aura is the result of wave of nerve activity that spreads over the brain, it is also known as cortical spreading depression. When this electrical wave spreads, the nerves fire in an abnormal way and this range of reversible neurological symptoms develop.
This can last from five minutes to 60 minutes.
As per the American Migraine Foundation, the headache phrase of a migraine attack is characterized by pain on one or both sides of the head. This phase lasts from several hours to up to three days.
This phase can vary from person to person. While some can experience mild pain, for others it could be a debilitating pain.
The pain, in this phase, also shifts from one side of the person's head to other. In this phase, doing everyday activity like walking, turning on the lights, or any slight change, movement, sensory actions can aggravate the pain.
This phase is also called "migraine hangover". This happens during the end of headache phase. The American Migraine Foundation notes that not everyone experiences this phase, however, it occurs in most cases, in about 80% of people.
In this phase, the headache could be debilitating, but then it follows with fatigue, body aches, and trouble concentrating, dizziness and sensitivity to light. While in this phase the headache is ending, however, people could still be sensitive to smells, tastes and sensory actions.
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