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Dr. Divya Bansal | Best Clinical Hematologist in Delhi - Manipal Hospitals

Dr. Divya Bansal

HOD - Clinical Haematology, Haemato-Oncology and BMT

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Dr. Divya Bansal | Best Clinical Hematologist in Delhi - Manipal Hospitals
Reviewed by

Dr. Divya Bansal

HOD - Clinical Haematology, Haemato-Oncology and BMT

Manipal Hospitals, Delhi

Myelodysplastic Syndromes: Causes, Diagnosis & Modern Therapies

Reviewed by:

Dr. Divya Bansal

Posted On: Feb 06, 2026
blogs read 6 Min Read
myelodysplastic syndrome symptoms

Myelodysplastic disorders are complex blood conditions that often go undetected until symptoms become significant. Myelodysplastic syndrome affects the bone marrow’s ability to produce healthy blood cells, leading to chronic health challenges if left untreated. With guidance from our oncologists and haematologists in Delhi, patients can access advanced diagnostic tools and personalised care plans that improve outcomes. Early diagnosis of myelodysplastic syndrome is essential for timely treatment and long-term disease control.

This detailed guide explains myelodysplastic syndrome, its causes, symptoms, diagnostic process, and the latest treatment options available today.

 

Understanding Myelodysplastic Syndrome

Myelodysplastic syndrome (MDS) is a group of disorders caused by poorly formed or dysfunctional blood cells. In myelodysplastic syndrome, the bone marrow produces immature cells, abnormally shaped cells that fail to mature into healthy red cells, white cells, or platelets. Over time, this leads to low blood counts and an increased risk of infection, bleeding, and fatigue.

Unlike acute blood cancers, myelodysplastic syndrome often progresses slowly, but in some patients it may transform into acute myeloid leukaemia (AML). Early identification of myelodysplastic syndrome is therefore critical.

Myelodysplastic Syndrome Causes Explained

Understanding myelodysplastic syndrome causes helps identify at-risk individuals. In many cases, myelodysplastic syndrome remains unknown and is classified as primary or de novo MDS.

Known myelodysplastic syndrome causes include:

  • Age-related bone marrow changes

  • Previous chemotherapy or radiation exposure

  • Long-term exposure to chemicals such as benzene

  • Genetic mutations affecting blood cell production

Secondary MDS, linked to identifiable myelodysplastic syndrome causes, often has a more aggressive course. Identifying these causes helps guide prognosis and treatment planning.

Myelodysplastic Syndrome Symptoms to Watch For

Myelodysplastic syndrome symptoms often develop gradually and may be mistaken for age-related weakness or other chronic conditions. Early myelodysplastic syndrome symptoms are usually related to low blood counts.

Common myelodysplastic syndrome symptoms include:

  • Persistent fatigue and weakness - Ongoing tiredness that does not improve with rest, often caused by low red blood cell levels affecting oxygen delivery to tissues.

  • Shortness of breath - Difficulty breathing during routine activities or mild exertion due to reduced oxygen-carrying capacity of the blood from anaemia.

  • Frequent infections - Repeated or prolonged infections occur because of low or dysfunctional white blood cells, weakening the body’s immune defence system.

  • Easy bruising or bleeding - Unusual bruises, frequent nosebleeds, bleeding gums, or prolonged bleeding from minor cuts due to reduced platelet counts.

  • Pale skin - Noticeable paleness of the skin or inner eyelids resulting from anaemia and decreased circulation of healthy red blood cells.

As myelodysplastic syndrome progresses, myelodysplastic syndrome symptoms may worsen, significantly impacting quality of life. Reporting symptoms early allows faster intervention.

Diagnosing Myelodysplastic Syndrome

Diagnosis of myelodysplastic syndrome requires detailed evaluation. Blood tests often reveal anaemia, low white cells, or low platelets. However, confirmation requires bone marrow examination.

Key diagnostic tools include:

  • Complete blood count (CBC) - A routine blood test that measures red blood cells, white blood cells, haemoglobin, and platelets to detect anaemia, infections, or bleeding abnormalities.

  • Peripheral blood smear - A microscopic examination of blood cells is used to assess their size, shape, and maturity, helping identify abnormal or poorly formed cells.

  • Bone marrow aspiration and  biopsy - A diagnostic procedure in which a small sample of bone marrow is extracted to evaluate blood cell production, cellularity, and abnormal cell presence.

  • Cytogenetic and molecular testing - Advanced laboratory tests that analyse chromosomes and gene mutations to identify genetic abnormalities, assess prognosis, and guide personalised treatment decisions.

These tests help classify myelodysplastic syndrome, assess risk, and guide myelodysplastic syndrome treatment decisions. Accurate diagnosis is essential for choosing modern therapies.

Risk Stratification and Disease Severity

Not all cases of myelodysplastic syndrome behave the same way. Risk scoring systems help determine disease severity and progression risk. Factors include:

  • Degree of cytopenia

  • Bone marrow blast percentage

  • Genetic abnormalities

Risk stratification plays a central role in determining the most appropriate myelodysplastic syndrome treatment approach.

Modern Myelodysplastic Syndrome Treatment Options

Advances in medicine have significantly improved myelodysplastic syndrome treatment. Treatment is tailored based on age, risk category, symptoms, and overall health.

Supportive Care

For lower-risk myelodysplastic syndrome, supportive care forms the foundation of myelodysplastic syndrome treatment. This may include:

  • Blood transfusions

  • Iron chelation therapy

  • Growth factors to stimulate blood production

  • Drug Therapy

Modern myelodysplastic syndrome treatment includes disease-modifying drugs that improve bone marrow function. These therapies help reduce transfusion dependence and slow disease progression.

Immunomodulatory and Targeted Therapy

Some patients benefit from advanced targeted treatments designed to address specific genetic abnormalities. These innovations have transformed myelodysplastic syndrome treatment outcomes.

Stem Cell Transplantation

Stem cell transplantation remains the only curative option for myelodysplastic syndrome, but it is suitable only for selected patients. Careful evaluation by specialists, including our oncologists in Delhi, ensures appropriate patient selection.

Emotional and Psychological Impact

A diagnosis of myelodysplastic syndrome can be emotionally challenging. Anxiety, uncertainty, and fear of progression are common. Psychological support, counselling, and patient education are integral to holistic myelodysplastic syndrome treatment.

Why Specialist Care Matters

The complexity of myelodysplastic syndrome demands specialised care. With access to advanced diagnostics and evolving therapies, our oncologists in Delhi provide comprehensive management plans that address both medical and emotional needs. Expert oversight ensures timely adjustments in myelodysplastic syndrome treatment as the disease evolves.

Prognosis and Long-Term Outlook

The prognosis of myelodysplastic syndrome varies widely. Some patients live for many years with stable disease, while others may experience progression. Early diagnosis, understanding myelodysplastic syndrome causes, and treatment adherence significantly improve outcomes.

FAQ's

Early myelodysplastic syndrome symptoms include fatigue, frequent infections, and easy bruising.

Myelodysplastic syndrome causes include ageing, genetic mutations, and prior chemotherapy or radiation.

Diagnosis involves blood tests, bone marrow examination, biopsy, and genetic analysis.

Myelodysplastic syndrome treatment depends on disease risk and may include supportive care, medications, or stem cell transplantation.

Stem cell transplantation offers a potential cure, but it is suitable only for selected patients.

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