World Thalassemia Day 2026: Raising Awareness & Saving Lives

Our blood cells play a vital role in carrying oxygen, fighting infections, and preventing bleeding. When the bone marrow, the body’s blood cell factory, does not function properly, it can affect overall health in subtle yet serious ways. One such condition is Myelodysplastic Syndrome (MDS), a group of bone marrow disorders in which the body does not produce enough healthy blood cells.

MDS is more commonly diagnosed in older adults and may present with symptoms such as fatigue, frequent infections, or easy bruising. In some cases, it can progress to acute leukaemia if not monitored closely. Understanding its symptoms, causes, and available management options is essential for early diagnosis and appropriate care. To help, this article explains what MDS is, how it develops, and the approaches used to manage it effectively.

What is Myelodysplastic Syndrome?

Myelodysplastic Syndrome (MDS) is a group of bone marrow disorders in which the bone marrow does not produce healthy, fully developed blood cells. Instead, it makes abnormal or immature cells that either die early or do not function properly. As a result, the number of normal red blood cells, white blood cells, and platelets in the bloodstream gradually decreases.

In simple terms, the “blood cell factory” inside the bones becomes inefficient.

Depending on which type of blood cell is affected, MDS can lead to:

• Low red blood cells (anaemia) - causing tiredness, weakness, and shortness of breath
• Low white blood cells - increasing the risk of infections
• Low platelets - leading to easy bruising or bleeding

MDS is considered a type of blood cancer because it involves abnormal changes in the bone marrow cells. However, its behavior varies widely. In some people, it progresses slowly and can be managed for years. In others, it may develop into a more aggressive condition such as acute myeloid leukaemia (AML).

The condition is more commonly seen in adults over the age of 60, although it can occur at any age. Early diagnosis and risk assessment are important to determine the most appropriate management plan.

Myelodysplastic Syndrome Symptoms

The symptoms of Myelodysplastic Syndrome develop when the bone marrow is unable to produce enough healthy blood cells. In the early stages, MDS may not cause noticeable discomfort and is often detected incidentally during routine blood tests. However, as blood cell counts continue to fall, symptoms become more apparent and can affect day-to-day functioning. The type and severity of symptoms depend on which blood cells are reduced.

Common Symptoms

Low red blood cells (anaemia), low white blood cells (neutropenia), or low platelets (thrombocytopenia) can lead to:

• Persistent fatigue or weakness
• Shortness of breath, especially during exertion
• Pale skin
• Frequent or recurrent infections
• Easy bruising
• Prolonged bleeding from minor cuts
• Nosebleeds or bleeding gums

These symptoms may initially appear mild but tend to worsen if the condition progresses.

Early Signs of MDS

In its early stages, MDS may present subtly. Some individuals experience:

• Mild anaemia detected on routine blood tests
• Occasional infections that take longer to resolve
• Slight reduction in platelet counts without significant bleeding
• Unexplained tiredness that does not improve with rest

Because these signs are non-specific, evaluation through laboratory testing is essential when abnormalities persist. Early identification allows for timely monitoring and appropriate risk assessment.

Myelodysplastic Syndrome Causes and Risk Factors

The exact cause of myelodysplastic syndrome is not always identifiable. In most cases, it develops due to acquired genetic changes in bone marrow cells that affect how blood cells grow and mature. These changes occur over time and are not typically inherited.

Understanding possible causes and risk factors helps in identifying individuals who may require closer monitoring.

Possible Causes

MDS occurs when mutations affect the stem cells in the bone marrow. These mutations interfere with normal cell development and result in ineffective blood cell production. Contributing factors may include:

• Previous chemotherapy or radiation therapy for another cancer
• Long-term exposure to industrial chemicals such as benzene
• Tobacco use
• Exposure to heavy metals
• Rare inherited bone marrow disorders

In many patients, however, no clear trigger is identified. This is referred to as primary (de novo) MDS.When MDS develops following chemotherapy or radiation, it is termed therapy-related MDS, which may behave more aggressively.

Is Myelodysplastic Syndrome Hereditary?

In the majority of cases, MDS is not hereditary. It develops due to acquired mutations during a person’s lifetime. Rare familial syndromes associated with bone marrow failure may increase susceptibility, but these cases are uncommon.

Who is Most at Risk?

Certain factors increase the likelihood of developing MDS, such as:

• Age above 60 years
• History of cancer treatment with chemotherapy or radiation
• Occupational exposure to toxic chemicals
• Smoking
• Long-standing bone marrow disorders

Because risk increases with age, MDS is more commonly diagnosed in older adults. Regular medical evaluation and blood testing can assist in early detection when abnormalities are suspected.

Myelodysplastic Syndrome Types and Risk Classification

Myelodysplastic syndrome is not a single disease but a group of related bone marrow disorders. Its behaviour can vary significantly - some forms progress slowly, while others carry a higher risk of developing into acute leukaemia. Because of this variability, accurate classification and risk assessment are essential.

Doctors evaluate MDS in two important ways: by identifying the disease subtype and by determining the overall risk category.

Classification Based on Blood and Bone Marrow Findings

MDS is first classified according to abnormalities seen in blood tests and bone marrow examination. This includes:

• Type of blood cell affected: Red cells, white cells, platelets, or a combination
• Number of cytopenias present: Whether one, two, or all three cell lines are reduced
• Blast percentage in the bone marrow: The proportion of immature cells
• Chromosomal or genetic abnormalities: Detected through cytogenetic testing

These factors help define the specific subtype of MDS.

Role of Blast Percentage

The percentage of immature cells (blasts) in the bone marrow is particularly important. A higher blast count indicates a more aggressive form of the disease and a greater likelihood of progression to acute myeloid leukaemia (AML).

Risk Stratification: Low-Risk vs High-Risk MDS

After identifying the subtype, doctors determine the overall risk category using validated scoring systems such as the Revised International Prognostic Scoring System (IPSS-R). This system considers:

• Bone marrow blast percentage
• Cytogenetic findings
• Severity of blood count reduction

Based on this assessment:

• Low-risk MDS often progresses slowly and may be managed with supportive or targeted therapy.
• High-risk MDS may require more intensive treatment due to a higher likelihood of disease progression.

Accurate classification and risk assessment guide decisions regarding monitoring, drug therapy, chemotherapy, or stem cell transplant.

How is Myelodysplastic Syndrome Diagnosed?

Because early symptoms of MDS can be subtle, diagnosis usually begins with routine blood tests showing unexplained abnormalities. A stepwise evaluation helps confirm the condition and determine its risk category.

Stepwise Diagnostic Approach

The diagnosis of myelodysplastic syndrome typically follows this sequence:

Step 1 → Complete Blood Count (CBC)

A CBC identifies low levels of red blood cells, white blood cells, or platelets.

Step 2 → Peripheral Blood Smear

A microscopic examination of blood cells helps detect abnormal size, shape, or maturity.

Step 3 → Bone Marrow Biopsy

This is the definitive test for MDS. A small sample of bone marrow is examined to assess cell development and measure blast percentage.

Step 4 → Cytogenetic Testing

Chromosomal analysis identifies specific genetic abnormalities that help classify the disease.

Step 5 → Molecular Testing

Advanced testing detects gene mutations that influence prognosis and treatment planning.

Diagnostic Tests at a Glance

Accurate diagnosis is critical not only to confirm MDS but also to determine whether it is low-risk or high-risk. This classification guides treatment strategy and long-term monitoring.

Myelodysplastic Syndrome Treatment Options

Treatment for myelodysplastic syndrome depends on the risk category, severity of blood count abnormalities, age, overall health, and genetic findings. In many cases, the goal is to control symptoms, improve blood counts, and reduce the risk of progression. A stem cell transplant remains the only treatment with curative potential, but it is suitable only for selected patients.

The treatment approach may include the following:

Supportive Care

Supportive therapy focuses on managing symptoms and improving quality of life. It may include:

• Blood transfusions to treat anaemia
• Platelet transfusions for bleeding risk
• Growth factor injections to stimulate red or white blood cell production
• Antibiotics for infection management

Supportive care is commonly used in low-risk MDS and may continue alongside other treatments.

Drug Therapy

Medications are used to slow disease progression and improve bone marrow function. These may include:

• Hypomethylating agents that help restore normal cell development
• Immunosuppressive therapy in selected cases
• Targeted therapy based on specific genetic abnormalities

These treatments aim to delay disease advancement and reduce transfusion dependency.

Chemotherapy

In higher-risk MDS or when there is progression towards acute leukaemia, chemotherapy may be recommended. This approach helps reduce abnormal blast cells and stabilise the disease.

Stem Cell (Bone Marrow) Transplant

A stem cell transplant replaces the diseased bone marrow with healthy donor stem cells. It is currently the only treatment with curative potential for MDS.

However, eligibility depends on:

• Age and overall health
• Disease risk category
• Availability of a suitable donor
• Fitness to tolerate intensive therapy

For many patients, treatment focuses on long-term disease control rather than cure. Individualised treatment planning is essential to achieve the best possible outcomes.

Living with Myelodysplastic Syndrome

Living with myelodysplastic syndrome requires regular monitoring and ongoing medical support. While some patients experience mild disease that progresses slowly, others may need closer supervision and active treatment. With appropriate care, many individuals can maintain daily routines and quality of life.

Management typically involves scheduled blood tests to monitor cell counts and assess disease stability. Follow-up visits allow doctors to evaluate treatment response and adjust therapy when needed. Long term management includes:

Preventing Infections and Managing Bleeding Risks

Because MDS can reduce white blood cells and platelets, preventive measures are essential. These include:

• Prompt treatment of infections
• Maintaining hygiene and limiting exposure during outbreaks
• Monitoring for unusual bruising or bleeding
• Seeking immediate medical attention for fever or persistent symptoms

Early recognition and timely intervention help reduce complications.

Nutrition, Strength and Physical Wellbeing

Balanced nutrition, adequate rest, and moderate physical activity support overall health. While diet does not cure MDS, maintaining physical strength and immunity can improve tolerance to treatment and enhance recovery.

Emotional and Psychological Support

Living with a chronic bone marrow disorder can create anxiety and uncertainty for both patients and families. Access to counselling services, support groups, and family guidance can improve coping and overall wellbeing.

With a personalised care plan and regular medical supervision, many patients continue to lead meaningful lives while managing the condition.

Why Choose Artemis Hospitals for Myelodysplastic Syndrome Treatment?

Managing myelodysplastic syndrome requires accurate diagnosis, risk-based treatment planning, and structured long-term follow-up. At Artemis Hospitals, care is delivered through an integrated haematology and oncology framework that combines advanced diagnostics, transplant expertise, and internationally benchmarked safety standards. This comprehensive approach is supported by strengths such as:

Specialised Haemat-Oncology Tumour Board

Each case of MDS is reviewed within the dedicated Hemat-Oncology Tumour Board, where haematologists, medical oncologists, transplant specialists, pathologists, and supportive care teams collaboratively evaluate the diagnosis and risk profile. This multidisciplinary review ensures that treatment decisions are evidence-based, personalised, and aligned with the patient’s overall health status.

Advanced Diagnostic and Molecular Capabilities

In myelodysplastic syndrome, treatment planning depends entirely on accurate diagnosis and detailed molecular assessment. Artemis Hospitals employs advanced laboratory technologies to ensure thorough evaluation, including:

• In-house bone marrow biopsy services
• Cytogenetic analysis for chromosomal abnormalities
• Flow cytometry for detailed cell assessment
• Next-Generation Sequencing (NGS) for molecular mutation profiling

These advanced tools allow precise classification and help guide targeted treatment strategies.

State-of-the-Art Bone Marrow Transplant Unit

For eligible patients, stem cell transplantation is performed in a dedicated Bone Marrow Transplant (BMT) Unit designed to meet stringent infection-control standards. Transplants are conducted in HEPA-filtered, sterile environments to minimise infection risk, which is particularly important for immunocompromised patients with MDS. The transplant programme is supported by experienced transplant physicians, specialised nursing teams, and structured post-transplant monitoring protocols.

Internationally Benchmarked Safety and Patient-Centred Care

Clinical protocols at Artemis Hospitals follow internationally recognised standards, with a strong emphasis on patient safety, infection prevention, and ethical treatment planning. Accredited infrastructure and quality-driven systems ensure that diagnostic accuracy, chemotherapy delivery, and transplant procedures adhere to established national and global benchmarks.

Note: Treatment plans are individualised after detailed counselling, ensuring that patients and families understand the goals of therapy, whether focused on disease control or curative intent.

Timely Diagnosis and Individualised Care Matter

Myelodysplastic syndrome requires careful evaluation, accurate classification, and personalised treatment planning. While some forms progress slowly and can be monitored for years, others require early intervention to reduce the risk of complications. Regular blood tests, timely diagnosis, and appropriate risk-based management significantly improve long-term outcomes and quality of life.

If there are persistent symptoms such as unexplained fatigue, frequent infections, or abnormal blood counts, medical evaluation should not be delayed. To book an appointment with a specialist at Artemis Hospitals, call our customer care at +91-124-451-1111 or WhatsApp. Appointments can also be scheduled through the online patient portal or by downloading and registering on the Artemis Personal Health Record mobile app, available for both iOS and Android devices.

Article by Dr. Sukriti Gupta
Sr. Consultant: Hematology, Paediatric Haemato-Oncology & BMT
Artemis Hospitals