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Defying Limits: Born With Thalassemia Is No Deterrence For This Patient-doctor
I live with a dual identity of a doctor and the patient of a much-maligned medical condition. I am an MBBS and MS in General Surgery from PGIMER Chandigarh, and am currently working as a Senior Resident in Neurosurgery at Fortis Hospital, Mohali, Punjab. However, I carry another identity — that of a thalassemia major patient, requiring bi-weekly blood transfusions and regular iron chelation.
Understanding thalassemia
Thalassemia, a genetic blood disorder, has been part of my family's narrative. I am not the only one in my family to manage this condition; my elder sister, also a thalassemic. My sister and I both have managed successful careers despite the condition. She has thrived as a senior accounts manager at an MNC after completing her MBA in Finance.
Like other thalassemia patients, our journey in the Indian set-up is marked by unique challenges, which begin with having no or only a little awareness about the medical condition.
There are economic barriers that hinder disease management. It costs a good amount of money to go through the treatment protocols, which don't end, ever. Fortunately, my parents have always been a pillar of support, encouraging us to never let our condition define our capabilities.
The pain behind inspiration
I am often told that my story is one of resilience and determination. But I will, in short, tell what it means. As a thalassemic, I require two units of blood every two weeks and must undergo iron chelation, a part of which involves a 12-hour subcutaneous infusion five days a week.
A blood transfusion is a simple and routine medical procedure. Blood, donated by somebody, is provided to a person in need through a narrow tube placed within a vein in one of the arms. It can take from one to four hours.
Donating blood and transfusing it to the needy are potentially life-saving procedures. I have been a beneficiary of blood donation. And, I want to thank all those on this World Blood Donor Day (June 14) who donate blood.
Iron chelation is a therapy that is used to reduce iron overload, meaning when you have too much iron in your body. This condition develops due to its deposition of iron in various organs such as liver and heart after regular blood transfusion. In the iron chelation process, a chelator (that binds with the excess iron in the body) is put under the skin for 12 hours five days in a week.
The right to dream
Pursuing a career in surgery was a daunting task, especially as a thalassemic. I often felt sidelined during my childhood, unable to join my peers in play due to my condition. Even some teachers doubted my potential. But my family's belief in me was unwavering. They supported my dream of becoming a doctor, reassuring me that while the path wouldn't be easy, it was certainly not impossible.
On my part, despite facing discouragement and rejection, I remained steadfast in my dream to become a neurosurgeon. Choosing surgery was a challenge marked by physical limitations and societal scepticism. Adjusting my medical needs around my professional responsibilities, I have proven that my condition does not define my capabilities.
My journey through medical school at Nil Ratan Sircar Medical College in Kolkata and residency at PGIMER Chandigarh was fraught with extended hours and immense workload. But it was the support of my professors and family that saw me through the toughest times.
I was rejected for Senior Residency at places due to my medical condition. However, Prof Ashish Pathak saw it differently and my merit got me a place in the neurosurgery department. My story, a regular one for any senior resident but accentuated by thalassemia, is a testament to the fact that with determination, even perceived limits can be transcended.
As a surgeon who has performed numerous surgeries and faced many challenges, I stand firm in my belief that I am limitless.I stand here proving that no profession is off-limits, regardless of societal and medical constraints. My condition is a part of me, but it does not set my boundaries. The sky's my limit.
The moot point
I have seen people paying practically no attention to thalassemia in the country, which, according to official estimates, is home to an eighth of the global caseload and has over 42 million thalassemia carriers.The government launched a mission in 2023 to eradicate thalassemia in 25 years, with the Union health and family welfare ministry saying that 10,000-12,000 infants are born with thalassemia in India annually. The numbers could be much higher as the screening is not efficient or proper in most states.
Despite the governmental and non-governmental campaigns, the common people are not too attentive to the scale of thalassemia. They think the HPLC test that determines thalassemia carriers in pregnant women is just a waste of money. I am fortunate that my parents didn't think that. My mother often told me that had Albert Einstein's mother listened to the world, we would not only have missed out on a great scientist and a genius but would also be living in a world without the concept of relativity, and maybe devoid of space exploration and satellites, who knows!
Do Thalassemia Carriers Have Symptoms?
People with thalassemia trait usually don't have any symptoms. In certain cases, like during pregnancy, thalassemia carriers may have symptoms of mild anemia, such as fatigue or headaches.
Thalassemia is a genetic disease that reduces your body's ability to produce healthy hemoglobin.
Alpha- and beta-thalassemia disease can cause serious illness and require ongoing care, but having thalassemia trait, also known as being a "thalassemia carrier," is different.
Experts estimate that about 5% of the world's population carries the alpha-thalassemia trait, and 1.5% carries the beta-thalassemia trait.
Research indicates that being a thalassemia carrier occurs more frequently in people who have African, Indian, Mediterranean, Middle Eastern, and Southeast Asian backgrounds. Scientists believe the trait helps protect against malaria infection.
People with thalassemia trait typically won't have any symptoms and can't go on to develop thalassemia disease themselves. But, because they can pass thalassemia gene mutations on to their children, they're called "carriers."
You inherit the genes responsible for building healthy hemoglobin from your parents. The specific types of thalassemia, depending on carriers, are:
To develop alpha-thalassemia disease, you'd need to inherit three or more faulty alpha-globin genes. To develop beta-thalassemia disease, both of your beta-globin genes must be mutated.
But, many people who inherit a smaller number of thalassemia gene mutations won't have thalassemia disease. Instead, they're thalassemia mutation carriers. Depending on which genes are affected, a doctor may diagnose alpha- or beta-thalassemia trait.
If you're a thalassemia carrier, you'll still make enough functional hemoglobin to stay healthy, but you can pass the thalassemia genes on to your children.
Alpha-thalassemia traitAlpha-thalassemia trait can occur when you inherit one or two affected alpha-globin genes. Alpha-thalassemia trait can mean either:
In this condition, which can also be called "beta-thalassemia minor," one of your two beta-globin genes is mutated. Researchers have identified more than 200 such mutations with a range of severities.
Because your second beta-globin gene is still fully functional, you usually won't experience any symptoms.
Usually, none. In both alpha- and beta-thalassemia traits, you could have persistent mild anemia, but this usually won't cause any symptoms. A doctor may notice specific findings on blood tests, such as smaller red blood cells (RBCs) or a change in their appearance.
When symptoms do occur, they're usually similar to symptoms of mild anemia, including:
Symptoms and signs might be more noticeable in special cases. For example, according to one 2022 study, it was noted that thalassemia trait can increase your risk of anemia or high blood pressure in pregnancy.
A doctor can help regularly check you for any unusual complications.
People with thalassemia trait typically don't require treatment.
Although you may have mild anemia, people with thalassemia trait don't benefit from iron supplements unless they also have iron deficiency. A doctor can check an iron storage level (ferritin test) to confirm.
Sometimes, people co-inherit the thalassemia trait with other hemoglobin mutations, such as sickle cell trait. In these cases, symptoms may be present, and you may need treatment.
If thalassemia runs in your family or you have a thalassemia trait that has been diagnosed, a doctor can refer you for genetic counseling to learn more about any risks to your future children.
If you have a family history of thalassemia or have a thalassemia trait that has been diagnosed, be sure to let a doctor know.
Thalassemia trait can look like iron deficiency anemia on a complete blood count (CBC), but most people with thalassemia trait don't have iron deficiency and don't require iron supplements.
If you have thalassemia trait and mild anemia, a doctor will need to check iron tests before deciding whether you need iron supplements.
The most important precaution for people with thalassemia trait concerns family planning.
Genetic counseling is important because you can pass on thalassemia genes even if you have no symptoms. If both you and your partner have thalassemia trait or other hemoglobin mutations, there's a chance your child could be born with more severe thalassemia disease.
Thalassemia carriers (people who carry the trait for either alpha- or beta-thalassemia) don't develop the disease but can pass on the gene mutations to their children.
If you're a thalassemia carrier, a doctor may notice that you have persistently mild anemia with smaller RBCs, but these are unlikely to cause symptoms or require treatment.
While thalassemia trait generally won't affect your overall health, it can occasionally cause issues in pregnancy, such as high blood pressure or worsened anemia. A doctor can help screen for these conditions.
It's important to let a doctor know you have thalassemia trait. If thalassemia runs in your family, you can ask to undergo testing. Knowing your carrier status may help a doctor avoid unnecessary treatments and will help them guide you with any desired family planning.
Dr. Roach: Iron Still Isn't Being Absorbed Properly Amid Iron Infusions
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