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A condition, known commonly as "black urine disease" or Alkaptonuria is a rare genetic disorder involving protein metabolism, and it has its root in the mutation of the homogentisate 1,2-dioxygenase gene, which in turn causes homogentisic acid accumulation in the body. The appearance of dark urine after exposure to air is due to this kind of accumulation; however, a variety of symptoms can be expected, such as joint stiffness, changes in pigmentation, and other long-term health complications. Although the prevalence has been estimated to be between 1 in 250,000 and 1 in 1 million people in the United States, its effects are indeed high on those affected.
Alkaptonuria is an autosomal recessive disease, meaning that the child must inherit a defective copy of the HGD gene from both parents. If both parents are carriers, their offspring have a 25% chance of inheriting two faulty genes and developing alkaptonuria. The condition is genetic but is often not diagnosed for years because it progresses slowly and its early symptoms appear to be harmless.
The most characteristic and common initial symptom of alkaptonuria is dark urine. The reason for this is due to the fact that excess HGA is excreted in the urine and upon oxidation in the presence of air, it gives the urine a brown or black color. Though it is often considered cosmetic, the long-term accumulation of HGA within the connective tissues produces more complicated health problems.
Progressive joint pain and stiffness: The accumulation of HGA in cartilage leads to early-onset osteoarthritis, making movement increasingly difficult over time.
Skin and eye pigmentation changes: Affected individuals may develop bluish or grayish discoloration of the sclera (white part of the eye) and the skin, particularly in areas exposed to friction.
Cardiovascular and respiratory problems: With age, HGA accumulation can lead to valve calcifications in the heart and stiffening of connective tissues in the respiratory tract, which can cause problems in middle and old age.
Decreased mobility and spinal problems: The spine may become stiff and painful due to chronic cartilage degeneration.
These symptoms usually begin to manifest during adulthood, leading to severe complications in a person's 40s or 50s and significantly affecting the quality of their life.
Because of its rarity, alkaptonuria is often mistaken or overlooked early in life. However, there are several ways to confirm the condition:
Urine Testing: The gold standard in the diagnosis is the testing of urine samples for high levels of homogentisic acid via gas chromatography. In case of oxidation, which changes the color of urine to black, it is indicative of alkaptonuria.
Genetic Testing: Confirmatory genetic testing reveals mutations of the HGD gene to diagnose the condition conclusively.
Blood Tests: High levels of HGA in the blood can be used as further evidence.
Imaging Studies: X-rays and MRIs will expose cartilage and joint damage characteristic of alkaptonuria.
At present, there is no cure for alkaptonuria; however, various treatment approaches can reduce its symptoms and slow the disease's progress:
Nitisinone Therapy: Nitisinone is a drug that inhibits the production of HGA. It has been shown to reduce HGA levels and slow tissue damage. However, it needs to be taken under close medical supervision because of potential side effects.
Low-Protein Diet: Since HGA is a byproduct of protein metabolism, reducing protein intake—especially foods rich in tyrosine and phenylalanine—may help decrease HGA production.
Pain Management: OTC pain relievers and anti-inflammatory medications can be used to relieve joint pain and stiffness.
Physical Therapy: Exercise regularly, as it may improve mobility and strengthen muscles, thus reducing strain on affected joints.
Surgical Interventions: Most people with alkaptonuria develop severe osteoarthritis necessitating joint replacement in their old age. Also, some may require heart valve replacement surgery if cardiovascular complications develop.
Although alkaptonuria is not fatal, it severely affects the quality of life. The progressive deterioration of the joints and associated symptoms can make everyday activities difficult, requiring lifestyle changes and medical interventions. The disease may cause premature aging of the joints, requiring walking aids and mobility assistance earlier than expected.
Ongoing research will continue to work on improving the treatment options by focusing on gene therapy and alternative enzyme replacement therapies. However, because of its rarity, the clinical trials and research remain sparse.
As genetic research advances, more hope for better management and possible curative approaches for alkaptonuria exists. Scientists are searching extensively for enzyme replacement therapies and innovative drugs that can target the root cause of the disorder. Being aware and being diagnosed early helps individuals better their condition and ultimately have better long-term health outcomes.
Alkaptonuria is a striking example of how one gene mutation can have widespread effects on the body. Though still a rare and often misunderstood condition, growing awareness and advances in treatment are paving the way for better care. If you or a loved one suspect symptoms of alkaptonuria, it is essential to seek early diagnosis and medical guidance to manage the disease effectively and preserve quality of life.
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Heavy menstrual bleeding caused by fibroids and other gynecological conditions is a major but often overlooked contributor to anemia among Indian women, said Dr. Roma Sinha, Chief Gynecologist and Director of Gynecological Robotic Surgery at Apollo Hospitals, Hyderabad, today.
Speaking at the Times Network India Health Summit 2026 at Hyderabad, Dr. Sinha highlighted how many women normalize excessive menstrual bleeding and delay seeking medical attention, often leading to severe anemia and a reduced quality of life.
According to Dr. Sinha, it is not uncommon for women to visit her clinic with hemoglobin levels as low as five or six grams per deciliter.
"Most of the time, it is not nutritional anemia. Women lose so much blood during their menstrual cycles that they are unable to rebuild their hemoglobin levels," she said.
While national programs such as Anemia Mukt Bharat focus heavily on pregnant women, Dr. Sinha pointed out that anemia occurring during other stages of a woman's life often goes unnoticed.
She said many women learn from family members and friends that heavy bleeding is "normal" and simply continue to suffer without seeking treatment.
Also read: Violence Against Doctors Is A National Concern, Says IMA Dilip P. Bhanushali
Beyond the underlying disease, Dr. Sinha emphasized the impact heavy menstrual bleeding has on women's daily lives.
"Many women think they are tired because of stress, work, or family responsibilities. But often it is low hemoglobin and iron deficiency causing that fatigue," she said.
The expert noted that a simple hemoglobin test can help diagnose anemia, yet many women continue to prioritize the health of their families over their own well-being.
Dr. Sinha identified lack of awareness and negligence as two major reasons why women delay medical consultations.
"Heavy bleeding occurs only for a few days every month, so women tend to tolerate it and move on. Many don't realize that it is treatable and that ignoring it can lead to dangerously low hemoglobin levels," she said.
The expert stressed the need for greater public awareness and open conversations about menstrual health.
"It should not be a taboo to talk about heavy menstrual bleeding," she added.
Read More: Childhood Obesity Is A 'Do or Die' Crisis, Experts Warn
A common fear among women, Dr. Sinha said, is surgery. Many patients avoid consultations because they assume treatment will automatically mean a hysterectomy —the surgical removal of the uterus— after which pregnancy is impossible, the top gynecologist said. However, she clarified that surgery is not the only option available for fibroids.
"Fibroids are largely benign tumors. Women today have choices, including medical management, non-invasive treatments, myomectomy, or hysterectomy, depending on their individual needs and preferences," she said.
The expert added that modern technologies such as robotic surgery have significantly improved outcomes for women requiring treatment.
Dr. Sinha also highlighted long-term research conducted on women who underwent robotic surgery for fibroids.
"We followed patients for ten years and found that 86.3 per cent conceived and delivered successfully after surgery," she said.
The findings, she noted, should reassure younger women concerned about fertility after fibroid treatment.
Read To Know: AI Cannot Replace Doctors, It Can Only Complement, Says Dr Santosh Sivaranjani
While early detection cannot eliminate fibroids completely, Dr. Sinha said it can prevent severe anemia and improve overall quality of life. "Current treatments can control symptoms and act as bridge therapies, helping women avoid complications and delay more definitive treatment when appropriate," she explained.
In her message to women, Dr. Sinha urged them to listen to their bodies and seek help when they notice abnormal menstrual bleeding.
"If you feel your periods are heavier than normal, don't ignore it. Get a simple hemoglobin test and consult a gynecologist," she said.
Dr. Sinha also called on families, particularly men, to support women in seeking care and to pay attention when they complain of persistent fatigue or excessive menstrual bleeding.
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Violence against healthcare professionals is no longer just a workplace issue but a national concern that threatens the very foundation of India's healthcare system, said Dr Dilip Bhanushali, Immediate Past National President of the Indian Medical Association (IMA), at the ongoing Times Network India Health Summit 2026 in Hyderabad.
Addressing a session on Building Trust in Healthcare: Addressing Violence Against Healthcare Professionals, the expert highlighted the alarming rise in attacks on doctors, nurses, and other healthcare workers, calling for urgent legal reforms, stronger security measures, and a renewed effort to rebuild trust between patients and medical professionals.
Drawing attention to the scale of the problem, the Dr Dilip said studies show that more than 60 per cent of healthcare workers in India have experienced some form of violence, with verbal abuse being the most common. Emergency departments continue to be among the most vulnerable areas for such incidents.
"Behind every statistic is a doctor who went home shaken, a nurse who cried silently after a night shift, or a medical student questioning their future in the profession," he said.
The growing normalization of violence against healthcare workers, he warned, is one of the most worrying aspects of the crisis.
Dr. Dilip noted that while doctors are often celebrated when treatments succeed, they frequently become targets when outcomes are unfavorable despite their best efforts.
"Medicine is not mathematics. Not every illness can be cured, not every complication can be predicted, and not every life can be saved," he said.
While emphasizing that accountability and transparency are essential when mistakes occur, the expert stressed that violence can never be justified. "A complication is not necessarily misconduct, and a bad outcome is not necessarily a crime," he added.
Also read: Childhood Obesity Is A 'Do or Die' Crisis, Experts Warn At Times Network India Health Summit 2026
Calling trust the foundation of effective healthcare delivery, Dr. Dilip said the erosion of trust between patients and doctors has serious consequences for the entire healthcare ecosystem.
"Without trust, every prescription is questioned, every diagnosis is doubted, and every conversation becomes a confrontation," he noted.
The Indian Medical Association has consistently maintained that violence against healthcare workers is not merely an attack on an individual doctor but on the healthcare system itself, he added.
The IMA leader reiterated the association's long-standing demand for a comprehensive central law to protect healthcare personnel and institutions.
While acknowledging that several states have enacted legislation against violence towards healthcare workers, they argued that enforcement remains inconsistent.
The association is seeking stricter penalties, mandatory registration of cases, speedy investigations, and time-bound prosecution of offenders.
"Laws on paper alone cannot protect healthcare workers. Enforcement is equally important," Dr. Dilip said.
Beyond legislation, Dr Dilip said called for practical measures to improve safety within healthcare facilities.
Recommendations included regular security audits, adequate CCTV coverage, trained security personnel, emergency response systems, and controlled-access areas within hospitals.
"No healthcare professional should fear for their safety while caring for patients," he said.
"The future of healthcare cannot be built on fear; it must be built on trust," Dr Dilip said.
Healthcare professionals, he added, continue to serve despite long hours, emotional strain, and personal sacrifices, and deserve both protection and respect.
"Protect the healer, and you protect healing itself," Dr Dilip said.
The ongoing Times Now India Health Summit 2026 – South Edition in Hyderabad is bringing together leading voices from government, medicine, research, and the healthcare industry to discuss the future of India's healthcare system.
The summit featured renowned doctors, policymakers, hospital leaders, researchers, and healthcare innovators, with discussions spanning preventive healthcare, artificial intelligence, women's health, public health policy, and medical innovation.
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As artificial intelligence (AI) continues to transform healthcare worldwide, concerns about technology replacing doctors remain a topic of debate.
Dr. Santosh Sivaranjani, popularly known as "The ORS Lady of India," addressed these concerns at the Times Now India Health Summit 2026 – South Edition in Hyderabad.
The renowned pediatrician and social activist emphasized that AI can only assist doctors and cannot replace the core human qualities that define medical care.
Dr. Sivaranjani acknowledged that doctors are increasingly embracing innovations such as artificial intelligence to improve patient care and health education. However, she stressed that technology has clear limitations.
"No matter how much AI advances, it can only complement us. It cannot replace the human touch, clinical acumen, or the genuine empathy that doctors have towards their patients," she said. "We should be proud of being doctors" because such qualities cannot be replicated by machines, she said.
Speaking before an audience of healthcare professionals, Dr. Sivaranjani also highlighted the unique challenges and rewards of being a doctor in India. She described the profession as both a privilege and an extraordinary challenge, citing the immense patient load, demanding work schedules, and personal sacrifices made by medical professionals every day.
"Our journey demands countless sleepless nights, missed birthdays, missed anniversaries, and even caring for other patients when our own loved ones are unwell," she said. "Yet the moment we see a patient recover and smile, all those sacrifices seem worthwhile."
Dr. Sivaranjani also reflected on the changing perception of doctors in India. She noted that physicians were once regarded with deep respect and seen as pillars of strength during families' most difficult moments. While many doctors continue to uphold these values, she expressed concern that rising healthcare costs and changing public expectations have altered doctor-patient relationships.
"Most doctors work to the best of their ability and according to their conscience, not to please patients but to provide the right treatment," she said.
The pediatrician further highlighted concerns about the inclusion of doctors under the Consumer Protection Act, arguing that it has contributed to a more defensive doctor-patient relationship.
"Medicine often requires difficult and sometimes risky decisions to save lives. However, fear of legal consequences can make doctors hesitant to take those necessary risks," she said.
Calling for efforts to rebuild public trust, Dr. Sivaranjani urged medical professionals to prioritize empathy, transparency, ethical practice, and patient education. She emphasized that medicine is not only a science but also an art that requires compassion and effective communication.
"The moment a patient enters your consultation room, half of their illness should disappear because of the confidence and reassurance you provide," she said. "Arrogance has no place in our profession."
She also stressed the need to strengthen public healthcare infrastructure to ensure equitable access to quality medical services across the country.
Concluding her address, Dr. Sivaranjani paid tribute to healthcare workers across India for their dedication and resilience.
"It is a privilege to be a doctor in this great country and to make a difference in so many lives," she said. "At the same time, it is an extraordinary challenge to protect ourselves from violence, navigate legal pressures, and help people understand that we are here not to please them, but to heal them."
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