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.

Symptoms of Alkaptonuria

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.

How is Alkaptonuria Diagnosed?

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.

Management of Alkaptonuria: Is There A Cure?

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.

Life with Alkaptonuria

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.

World Thalassemia Day is observed every year on May 8 to raise awareness about the inherited blood disorder caused by faulty genes.

The day was initiated in 1994 by the Thalassaemia International Federation in memory of George Englezos, the son of the federation’s founder, who succumbed to the disease.

This year’s theme, “Together for Better Care and Equal Access,” highlights the need for universal screening, safe blood availability, and advanced therapies.

The disorder, which often requires blood transfusions every fortnight, affects approximately 1.3 million people living with severe forms of thalassemia worldwide. About 1.5 percent of the global population is carriers, and the disease claims nearly 11,000 lives annually.

More than 40,000 infants are born each year with severe thalassemia, predominantly in low- and middle-income countries. Although mortality rates have declined, they remain high in developing regions, particularly in Southeast Asia.

What Is Thalassemia?

Thalassemia is an inherited hemoglobin disorder caused by defective synthesis of alpha or beta globin chains.

In β-thalassemia major, reduced or absent beta-chain production leads to ineffective erythropoiesis, severe anemia, bone marrow expansion, splenomegaly, growth retardation, and iron overload due to repeated blood transfusions.

Patients often present in early childhood with pallor, jaundice, recurrent infections, and characteristic facial bone deformities.

Thalassemia Screening

With 10,000–15,000 babies born with Thalassemia Major every single year in India, the country remains one of the global hotspots for the blood transfusion-dependent disease.

HealthandMe spoke to doctors who emphasized that carrier screening, premarital counseling, and antenatal diagnosis remain crucial preventive strategies in India, often referred to as the “thalassemia capital of the world”, as nearly one in every eight thalassemia patients globally lives in the country.

Experts stressed that normalizing conversations around screening is key to reducing the disease burden.

Dr. Ajay Sharma, Director and Head of Hematology and Hemat-Oncology at Paras Health Panchkula, said thalassemia is a preventable genetic disorder, but continues to go undetected until it is too late.

This is because “thalassemia screening, which is one of the simplest yet most overlooked preventive steps in India,” said Dr. Vishnu Hari, Associate Director and Head of Haematology & BMT at Sarvodaya Hospital, Faridabad.

“Every couple, especially those planning marriage or pregnancy, should undergo basic carrier screening. The challenge is not the availability of tests, but the lack of awareness and social hesitation around genetic conditions,” Dr. Hari said.

Also read: Reused Syringes Infect Over 330 Children in Pakistan With HIV: Report

When To Get Screened?

Screening should ideally be done early, as early detection helps informed decision-making and prevents severe health complications in children. Experts recommend screening:

• At the premarital stage
• At the start of pregnancy

What Will the Screening Find?

Carrier detection is possible with a complete blood count and a test called High Performance Liquid Chromatography (HPLC). Indicators include:

• Low haemoglobin (~9 g/dL)
• Low MCV (Mean Corpuscular Volume, ~65)
• HbA2 levels above 3.5%

“If both partners are carriers, timely genetic counselling during the antenatal phase becomes critical,” he said.

While cultural stigma and low prioritization of preventive healthcare often delay this step, the integration of routine thalassemia screening into premarital check-ups and early pregnancy care can help significantly reduce the number of affected births in India.

What Could Be Done To Manage Thalassemia?

Dr Parveen Yograj, a General Surgeon from Jammu, in a post on the social media platform X, shared that treatment for thalassemia has evolved remarkably over recent decades.

“Regular blood transfusions combined with iron chelation therapy using agents like Deferasirox and Deferiprone have significantly improved survival. Curative therapy through bone marrow transplantation is now increasingly successful, especially in children with matched donors.

"Recent breakthroughs in gene therapy and CRISPR-based genome editing offer new hope for a long-term cure by correcting defective globin gene expression,” he said.

There is a particular cruelty about ovarian cancer. It does not announce itself loudly. Instead, it murmurs softly with a bit of bloating here, some lower back pain there, a persistent sense that something is not quite right, but nothing dramatic enough to cause alarm. And by the time most women receive a diagnosis, the disease has often made itself very much at home.

Every year on May 8th, the world pauses to mark World Ovarian Cancer Day, an occasion that has grown since its launch in 2013 into a genuinely global movement. This year’s theme – ‘No Woman Left Behind’ – carries particular weight because the uncomfortable truth is that far too many women are being left behind by late diagnoses, by underfunded research, and by healthcare systems that have historically paid less attention to this disease than it deserves.

The Numbers We Need to Sit With

Roughly 250,000 women are diagnosed with ovarian cancer every year across the world. An estimated 140,000 will die from it. It is, by some measures, the deadliest of all gynecological cancers, and yet, it receives a fraction of the public attention given to breast cancer.

The comparison is worth dwelling on. Approximately 89 per cent of breast cancer patients survive beyond five years. For ovarian cancer, that figure drops to around 45 per cent – nearly half! And the primary reason for that stark difference is not that ovarian cancer is inherently untreatable but that it is rarely caught in its early stages.

When diagnosed at Stage I before the cancer has spread beyond the ovaries, survival rates climb dramatically, with some studies suggesting above 90 per cent. The problem is that only around 20 per cent of cases are caught that early. The rest are diagnosed at Stage III or Stage IV, when the cancer has already spread to the abdomen, lymph nodes, or beyond.

Why Does It Get Missed?

Ask most people to name the symptoms of ovarian cancer, and you will likely be met with a blank look. That in itself is part of the problem. Unlike the distinct lump in breast cancer cases or the irregular bleeding associated with cervical and uterine cancer, ovarian cancer does not produce one clear and recognizable sign. What it does produce are symptoms that most of us would simply dismiss – persistent bloating, feeling full quickly when eating, pelvic or lower abdominal pain, urge to urinate more frequently or urgently, unexplained fatigue, and a change in bowel habits.

Each of those individually could be attributed to several other conditions, including irritable bowel syndrome, gut infections, stress, dietary changes, and even getting older. That is precisely what makes this disease so dangerous. Women dismiss these symptoms. Sometimes doctors do too.

This is not about blame; it is about recognition. The medical community has made genuine progress in understanding ovarian cancer, but there simply aren’t any reliable early-screening tests available that are similar to mammograms for breast cancer or smear tests for cervical cancer. Hence, genuine and widespread public awareness becomes the closest thing to building a first line of defense.

No Woman Left Behind: A Global Reckoning

The 2026 theme is not merely a slogan. It is a confrontation with the reality that a woman’s place of residence, country, or economic circumstances should not determine whether or not she lives.

In higher-income countries, access to surgery and chemotherapy, whilst still imperfect, is broadly available. Newer treatments are beginning to extend survival times for women with advanced disease. Research into biomarkers is advancing, offering hope for earlier detection in the future.

But in lower-income countries, the picture is vastly different. Women are often diagnosed later, treated less effectively, and supported less comprehensively. The global survival gap for ovarian cancer is not simply a medical problem; it is more a problem of justice.

‘No Woman Left Behind’ asks us to hold that in mind. Progress that only reaches the privileged is not progress enough.

What Women Can Do Right Now

The absence of a reliable screening test makes personal awareness all the more essential. There are several things every woman can do, not just on May 8 but throughout the year.

• Know your body – That phrase risks sounding hollow, but it carries real weight here. If you notice symptoms – particularly if they are new, persistent, and happening more than 12 times a month – do not dismiss them. Note them down and take them seriously.
• Know your family history – Ovarian cancer has a significant genetic component. Mutations in the BRCA1 and BRCA2 genes substantially increase a woman’s lifetime risk. If you have a family history of ovarian or breast cancer, speak to your GP about whether genetic testing might be appropriate for you. Knowledge is not a cause for panic; it is a basis for informed decisions.
• Advocate for yourself – This is perhaps the hardest one to say and the most important. Women have historically been more likely to have their symptoms dismissed or attributed to anxiety, hormones, or stress. If something does not feel right, go back and ask again. Push for a referral. You are entitled to be taken seriously.
• Talk about it – The single most powerful thing any of us can do is have conversations — with friends, with family members, in offices, and community spaces. The more ovarian cancer is spoken about, the more women will recognize its symptoms. And the more symptoms are recognized early, the more lives can be saved.

The Quiet Power of Collective Action

Since 2013, World Ovarian Cancer Day has grown into a movement that now spans more than 80 per cent of the world’s countries and is supported by over 200 organizations globally. That is an extraordinary thing. It is proof that sustained, collective attention can shift awareness, influence policy, and ultimately change outcomes.

But awareness days only work if they spark something beyond the day itself. The teal ribbons and social media posts matter, not because they are gestures, but because every gesture has the potential to reach someone who needs to hear it, someone whose bloating has been going on for two months, someone whose mother was diagnosed with breast cancer and who has never thought to ask whether their own risk might be elevated. Someone who simply did not know.

Therefore, let us spread awareness this day by realizing that equality is not in regarding different things similarly, equality is in regarding different things differently, and still leaving no one behind.

Many women do not consider persistent bloating to be a serious issue because they tend to correlate their symptoms with acidity, excessive gas, overeating, or other temporary issues caused by their digestive system. Many women tend to treat their symptoms on their own by changing their diet or taking over-the-counter medications without looking into what the underlying problem may be. Many women do this because their symptoms initially seem mild. However, it is important to pay attention to any persistent bloating, especially if the bloating occurs on a regular basis, has lasted for at least one month, or is associated with symptoms such as pelvic discomfort, loss of appetite, an increased feeling of fullness, or irregular bowel habits (diarrhoea, constipation, etc.).

Is persistent bloating a sign of ovarian cancer?

In an interaction with Health and Me, Dr Parnamita Bhattacharya, Gynaecologist at CK Birla Hospitals, CMRI, spoke about the concerns surrounding persistent bloating and whether it is associated with the risk of ovarian cancer.

One of the most significant concerns surrounding persistent bloating is that women can develop ovarian cancer, especially in the early stages, without knowing or having any obvious signs that they have the disease. Because there are no routine screening tests to detect ovarian cancer in the general population, it is critical for women to be on the lookout for any symptoms of persistent bloating and report them immediately to their doctor. Unfortunately, because women often ignore their symptoms and fail to seek medical attention, by the time they do see a doctor, ovarian cancer has progressed to a later stage of development.

How to know if it is digestion-related bloating?

Not all bloating is related to ovarian cancer. Other common contributing factors to bloating include irritable bowel syndrome, food intolerance, hormonal changes, and lifestyle factors. The significant difference between "normal" bloating and "abnormal" bloating is how long each type of bloating lasts and how quickly the symptoms progress. If your bloating continues despite dietary changes, or if it increases in frequency, you should not ignore the symptoms. You should have them evaluated by a medical professional.

It is important for women to understand the signals sent by their bodies. If you frequently experience bloating, this issue needs to be investigated and not just accepted as normal. If you seek timely evaluation, doctors can determine the source of your problem early on, which greatly increases your chances of a good outcome from a serious diagnosis such as ovarian cancer.

What are the symptoms of ovarian cancer?

Ovarian cancer symptoms can be vague and may develop as the disease progresses. Therefore, timely detection is a challenge. Some of the signs of ovarian cancer include:

1. Pain in the pelvic region
2. Swollen belly
3. Loss of appetite
4. Feeling full after small meals
5. Nausea
6. Diarrhoea
7. Constipation
8. Unexpected weight loss
9. Painful sex
10. Extreme fatigue
11. Abnormal vaginal bleeding between periods