For over 15 years, Dr Anthony Shum, a pulmonologist at the University of California, San Francisco has been studying a rare genetic disorder called the COPA Syndrome. It stands for coatomer subunit alpha and is a rare, inherited disorder that affects the lungs, joint, and kidney. The National Organization for Rare Disorder also notes that it is a genetic autoimmune disorder that is caused by mutations in the COPA gene. This disease affects families unpredictably—some individuals with the mutation develop severe lung damage early in life, while others remain completely healthy. Now, Shum’s team has discovered a protective genetic variant that may offer new hope for treatment.

A Breakthrough

Researchers found that some relatives of COPA Syndrome patients stayed healthy despite carrying the same COPA gene mutation that causes the disease. The key difference? These unaffected individuals had a protective version of another gene called HAQ-STING.

When scientists introduced HAQ-STING into diseased lung cells from COPA patients, the cells returned to a balanced state, suggesting that this gene could be used as a therapy.

“We really think HAQ-STING could be a gene therapy tool and a step toward a cure,” said Shum, whose findings were published in the Journal of Experimental Medicine.

Families Who Solved The Mystery

Shum’s journey into COPA Syndrome research began in 2011 when he treated a young woman, Letasha, who had severe lung bleeding. Her mother, Betty Towe, mentioned that Letasha’s sister, Kristina, had suffered from similar symptoms. Over the years, Betty had taken both daughters on a four-hour trip to UCSF for treatment. After tracing their family history, Shum discovered that their distant relatives in Texas and Oakland also had lung problems and arthritis. In 2015, Shum, along with scientists from Baylor College of Medicine and Texas Children’s Hospital identified the COPA gene mutation. They realized that it was the common factor behind the illness. However, only some of the 30 individuals with the mutation actually developed symptoms, leaving a major question unanswered.

The Domino Effect

It was established that it occurs when a mutated COPA gene causes another gene STING to go overdrive. The STING that helps fight infections in COPA patients, remain permanently active, which leads to chronic inflammation that damages the lungs, kidneys, and joints. In 2020, while studying STING’s role in the disease, researchers discovered a key variation: HAQ-STING. This version of STING, present in about one-third of the population, appeared to neutralize the harmful effects of the COPA mutation.

To confirm their theory, the scientists needed both affected and unaffected family members to participate in the testing. Letasha, Kristina and Betty immediately volunteered. The researchers then analyzed DNA samples from 26 COPA patients and their healthy relatives. They also conducted CT scans and blood tests to ensure that unaffected members did not have any hidden symptoms. When the findings were all clear, it was revealed that all the healthy individuals had HAQ-STING, while none of the COPA patients did. This was the first known case of a common gene variant completely protecting against a severe genetic disease.

Encouraged by this discovery, researchers tested HAQ-STING’s effects in a lab setting. They introduced it into diseased lung cells from COPA patients, and the cells returned to normal function.

Way Ahead

Shum believes HAQ-STING could lead to game-changing treatments, including:

• Prenatal gene therapy for babies diagnosed with COPA Syndrome before birth
• Aerosol delivery of HAQ-STING for adults, directly targeting the lungs

Before publishing their findings, Shum called Betty with the news—her own HAQ-STING gene had protected her from the disease. He also informed Letasha and Kristina, who were overwhelmed with relief and joy.

“We always believed Dr. Shum would get to the bottom of it,” said Letasha. “This discovery is going to change lives.”

Organ donation is one of the most profound ways in which we can give the gift of life to another person. To raise awareness about organ donation, it is important address common myths and encourage more people to consider pledging their organs.

India has a large number of patients waiting for organ transplants, including transplants of the liver, kidney, heart, pancreas, intestine and other organs and tissues.

Despite the significant need, organ donation rates remain low, with lack of awareness and several misconceptions continuing to be major barriers. One organ donor can potentially save multiple lives. However, for this to happen, it is important that people understand the process and make an informed decision about organ donation during their lifetime.

Busting Common Myths About Organ Donation

1. “My religion does not permit me to donate my organs.”

2. “Organs can only be donated after the heart stops beating.”

For most organs, donation after brain death is possible when the brain has permanently stopped functioning, but the heart is still beating, which generally occurs in an intensive care setting. Corneas can also be donated after death within a limited time period. This is why pledging your organs during your lifetime and discussing your decision with your family is important.

3. “Organ donation will disfigure or mutilate the body.”

Organ retrieval is performed by trained medical specialists in an operating theatre. The surgical incision is carefully closed after the procedure, and the body is not mutilated.

Also read: Post-Organ Donation And Transplant Care: How Can Donors And Recipients Stay Healthy?

4. “I can buy a kidney or liver for my family member.”

5. “If I donate a kidney, I will become weak or handicapped.”

A healthy person who is found suitable for living kidney donation through the required medical evaluation can generally continue their normal life after donation. The remaining kidney is capable of maintaining normal kidney function.

6. “A kidney donor has to take lifelong medicines.”

Kidney donation does not mean that a healthy donor has to take lifelong medication simply because they have donated a kidney. Some pain medication may be required during the initial recovery period, while the remaining healthy kidney continues to perform its function.

7. “I will have severe dietary restrictions after donating a kidney.”

According to the source material, kidney donors do not generally need specific dietary restrictions solely because they have donated a kidney, as the remaining kidney continues to maintain normal kidney function.

8. “I will not be able to have children after donating a kidney.”

Both men and women who donate a kidney can have children. For women, the source recommends waiting one year after donation before becoming pregnant to allow the body to recover completely.

9. “I am over 60, so I am too old to donate.”

Age alone does not determine whether someone can donate. The health of the donor and the condition of the organs are important considerations, and suitability is determined through medical evaluation.

Also read: World Organ Donation Day 2026: Too Old Or Too Sick To Donate Organs? Doctors Bust Key Myths

What Can We Do To Encourage Organ Donation?

• Consider pledging your organs during your lifetime and communicate your decision clearly to your family.

• Talk to your family, friends and colleagues about organ donation and help dispel common myths.

• Encourage community organisations to participate in creating awareness around organ donation.

• Do not assume that you are medically unfit to donate. A team of medical experts evaluates the donor and determines suitability.

• Organ donation is a completely voluntary decision. No individual should be pressured into donating an organ.

• Patients waiting for an organ transplant should approach a licensed transplant hospital and complete the necessary registration formalities, including through the NOTTO system.

Organ donation is ultimately about giving someone another chance at life. We should not take our organs with us; they can be used to save lives and give hope to those waiting for a transplant.

By Dr Sanjeev Gulati, Chairman, Nephrology, Fortis, Vasant Kunj

Anemia remains one of the least talked about threats to a safe pregnancy in India. The National Family Health Survey-5 data shows that 52.2% of pregnant women in India were anemic. This translates to at least one in two expectant mothers entering pregnancy with insufficient hemoglobin to meet her own and her baby’s needs.

Pregnant women with iron-deficiency anemia may feel unusually tired, weak or short of breath. Some women may suffer from dizziness, headaches, palpitations or reduced ability to concentrate. However, symptoms can be subtle and this is why routine antenatal screening is important even if the woman feels well.

Left unaddressed, it raises the risk of preterm birth, low birth weight, postpartum haemorrhage, and maternal fatigue severe enough to affect daily functioning and recovery after delivery.

Severe anaemia can also reduce a woman's ability to tolerate blood loss during delivery, making even an otherwise uncomplicated birth potentially more challenging.

Why pregnancy makes it worse? Well, blood volume expands by nearly 50% during pregnancy, and the growing fetus draws heavily on maternal iron stores, especially in the second and third trimesters. Most Indian women begin pregnancy with iron stores already depleted by poor dietary intake, frequent pregnancies, or heavy menstrual blood loss. So, the added demand tips many into overt anaemia.

Do's:

1. Start Antenatal Care early. You should get a baseline haemoglobin test at your first antenatal visit, and repeat this each trimester or more if needed.

2. Iron and folic acid tablets must be taken in accordance with the prescription given. It is best to start with them before conceiving or as soon as possible in the pregnancy process, preferably in discussion. The dietary consumption may not always be sufficient to cater to the increased demands during pregnancy.

3. Pair iron-rich foods with vitamin C. A squeeze of lemon with dal or leafy greens meaningfully improves absorption. Indian gooseberry (amla), guava, oranges and tomatoes improve absorption of non-heme iron from plant based foods.

4. Include iron-dense foods regularly like leafy greens, jaggery, dates, legumes, eggs. If non-vegetarian, eat lean meat or fish, meat or poultry.

5. Treat underlying causes. Get heavy periods, worm infestations or unexplained fatigue evaluated before conception if possible.

6. Ask about your ferritin level, not just haemoglobin, since ferritin reveals depleted iron stores earlier.

Anaemia is not always caused by iron deficiency. B12 or folic acid deficiency, problems with haemoglobin production, infections, and many other medical conditions can also be contributing factors.

Also read: 'My Periods Are Painful' Is Not Always Normal: When Could It Be A Sign of Endometriosis?

Don'ts:

1. Do not stop iron supplements simply because you feel better. Treatment usually needs to continue for the recommended period to replenish iron stores.

2. Don't take iron tablets with tea, coffee or milk. These block absorption. Space them at least an hour apart.

3. Do not skip supplements because of nausea or constipation. Ask your doctor for alternate formulations instead of foregoing the supplements.

4. Don't assume fatigue is ‘normal pregnancy tiredness’ without a haemoglobin check. Persistent breathlessness, dizziness or a racing heart need evaluation.

5. Don't self-medicate with over-the-counter iron doses. Both too little and too much iron can cause harm.

6. Don't ignore mild anaemia on the assumption that it will ‘sort itself out’. It typically worsens as pregnancy progresses and has to be actively treated.

Anemia in women is mostly preventable and treatable early. Regular antenatal check ups, proper supplementation, balanced diet and timely treatment can go a long way in reducing its impact on the mother and baby. The key message is simple, really. Screen early, do not wait for symptoms, treat appropriately and maintain adequate iron stores throughout pregnancy.

Blood tests are often a source of dread for people in our society. While many people dread the needle stick, most are scared of what the results may show. Even before consulting a physician, most people nowadays would consult an AI-powered platform to verify and interpret the values of their blood tests. However, such online searches most often give rise to more uncertainties and confusion rather than answering the basic queries. Thus, this article is an attempt to shed some light on the basics of common blood test results.

LIPID PROFILE

Lipid profile is one test that everyone should do, at least occasionally, after the age of 40. This is a silent epidemic, and without blood tests, no clinical symptoms can reliably identify raised lipid parameters. There are multiple parameters printed in the report, but the main values we are looking for are total Cholesterol, triglycerides, LDL, and HDL. There are many others, but the interpretation of those is best left to your physician. Total Cholesterol should be less than 200, triglycerides less than 150, and the “bad” cholesterol, or LDL, should be below 100. On the other hand, HDL, the “good” cholesterol, should be above 40 for men and above 50 for women. So, for HDL, we want the values to be higher! However, whether deranged lipid parameters warrant treatment and, if so, for how long, will be the clinical decision of your doctor.

CBC

CBC means complete blood count. This is the most basic test done for every patient. In this test, we check for levels of haemoglobin, total leukocyte count, differential white cell count, platelet count, and ESR. Besides, there are numerous other parameters printed in your report, like MCV, MCH, MCHC, RDW, and PDW. But let’s first look at the basic parameters. Haemoglobin is perhaps the most important parameter to look at. It shows how much oxygen your blood can carry. Low hemoglobin is called anemia. If you have anaemia, you need to get treatment ASAP. The standard normal values of hemoglobin depend on age and gender and also physical states like pregnancy. The normal hemoglobin of an adult male will be different from that of an adolescent girl. There are many different causes of anaemia in our society, like iron deficiency, worm infestation, thalassemia, and kidney disease. Your doctor will do further tests to elucidate the cause.

The next most important parameter is total leukocyte count. This gives an indication of whether you have any infection or inflammation. Conversely, in some conditions like Typhoid, the counts may be low despite fulminant infection. Platelet count is also important in infections like dengue, where it may get dangerously low. We need to check platelet count repeatedly, sometimes even twice or thrice the same day, in dengue infection. Platelet count may be low in some forms of blood cancer too.

The other parameters like MCV and RDW are too complex to be discussed in this short article. Suffice it to say, they are deranged in conditions like Thalassemia, sickle cell disease, vitamin B12 deficiency, and hereditary Red cell membrane disorders.

Also Read: BTS’ V Opens Up About 2-Year Battle With Hearing Loss

And finally, the ESR is a very non-specific parameter. It can be raised in multiple conditions, ranging from cancer to inflammation. It is usually interpreted in unison with other necessary tests.

Dr Rudrajit Paul, Consultant Physician, Manipal Hospital, Kolkata