MDS is classified as a type of bone marrow failure disorder. In healthy individuals, bone marrow produces:

• Red blood cells (RBCs) to carry oxygen.

• White blood cells (WBCs) to fight infection.

• Platelets to control bleeding.

In MDS, abnormal stem cells in the bone marrow create defective blood cells. These immature cells die earlier than normal, leaving fewer healthy cells in circulation. This condition is sometimes called “pre-leukemia” because of its potential to progress to acute myeloid leukemia.

The World Health Organization (WHO) classifies MDS into several subtypes based on blood cell appearance and genetic changes:

1. MDS with single lineage dysplasia (MDS-SLD)
   • Only one type of blood cell is affected (RBCs, WBCs, or platelets).

2. MDS with multilineage dysplasia (MDS-MLD)
   • Two or more blood cell types are abnormal.

3. MDS with ring sideroblasts (MDS-RS)
   • Bone marrow produces red blood cells containing iron deposits in a ring shape.

4. MDS with excess blasts (MDS-EB)
   • Higher numbers of immature blood cells (blasts) are present.

   • Higher risk of progression to AML.

5. MDS with isolated del(5q) abnormality
   • Characterized by a specific chromosomal deletion on chromosome 5.

   • Often associated with better prognosis when treated properly.

6. Unclassifiable MDS (MDS-U)

• Does not fit neatly into other categories but still shows bone marrow abnormalities.
  

MDS arises when bone marrow stem cells acquire genetic mutations. While the exact cause is not always clear, risk factors include:

• Age – Most cases occur in people over 60.

• Previous cancer treatment – Chemotherapy and radiation increase MDS risk.

• Exposure to chemicals – Benzene, pesticides, and industrial solvents are linked to higher rates.

• Smoking – Long-term smoking is associated with DNA mutations.

• Genetic predisposition – Rare inherited syndromes such as Fanconi anemia.

• Other blood disorders – Long-standing bone marrow problems can evolve into MDS.
  

Many patients are asymptomatic in early stages, and the condition is often discovered during routine blood tests. Common symptoms include:

• Fatigue and weakness – Caused by anemia.

• Shortness of breath – Especially during physical activity.

• Frequent infections – Due to low white blood cell counts.

• Easy bruising and bleeding – From reduced platelets.

• Pale or yellowish skin – Linked to low red blood cell levels.

• Unexplained weight loss or fever – Seen in progressive disease.

Because symptoms overlap with other illnesses, early medical evaluation is critical.

Doctors use a combination of tests to confirm MDS:

• Complete Blood Count (CBC) – Detects abnormal blood cell counts.

• Peripheral blood smear – Examines cell size, shape, and maturity.

• Bone marrow biopsy and aspiration – The most definitive test.

• Cytogenetic testing – Identifies chromosomal abnormalities.

• Molecular genetic testing – Looks for specific gene mutations (e.g., TP53, SF3B1, RUNX1).

Diagnosis also includes risk stratification, using scoring systems like:

• International Prognostic Scoring System (IPSS)
• Revised IPSS (IPSS-R)
  
  

These tools assess survival chances and progression risk to AML.

The choice of treatment depends on age, health, risk category, and subtype. Treatments are often divided into supportive care, disease-modifying therapies, and curative options.

1. Supportive Care

• Blood transfusions – For anemia and low platelets.

• Growth factors – Erythropoietin (EPO) to stimulate RBC production, G-CSF for WBCs.

• Antibiotics – To fight recurrent infections.

• Iron chelation therapy – Reduces excess iron from repeated transfusions.

2. Drug Therapies

• Hypomethylating agents (HMAs) – Azacitidine and decitabine slow disease progression and improve survival.

• Immunomodulatory drugs – Lenalidomide is effective for patients with 5q deletion.

• Targeted therapies – New drugs target specific mutations (e.g., IDH inhibitors).

3. Stem Cell (Bone Marrow) Transplant

• The only curative treatment for MDS.

• Replaces diseased marrow with healthy donor stem cells.

• Best suited for younger patients with high-risk disease.

4. Clinical Trials

• Research is ongoing in CAR-T cell therapy, gene editing, and next-generation targeted drugs.

• Clinical trials provide access to emerging treatments.

Managing MDS requires not just medical treatment but also lifestyle adjustments:

• Nutrition – A diet rich in protein, iron, and vitamins supports blood health.

• Exercise – Light to moderate activity improves stamina and reduces fatigue.

• Infection prevention – Hand hygiene, vaccinations, and avoiding crowded places during low immunity.

• Mental health – Counseling and support groups help manage stress and uncertainty.

• Regular monitoring – Frequent blood tests are essential to track disease progression.
  

Recent breakthroughs have transformed MDS management:

• Next-generation sequencing (NGS) allows precise identification of mutations.

• CAR-T cell therapy is being explored for high-risk cases.

• Combination therapies (e.g., HMAs with venetoclax) show promise in clinical trials.

• Personalized medicine is increasingly used to tailor treatment based on genetic makeup.
  

MDS prognosis varies widely:

• Low-risk MDS – Patients may live many years with supportive care.

• High-risk MDS – Greater likelihood of progression to AML within months to years.

• Stem cell transplant recipients – Can achieve long-term remission but face risks of complications.

Survival depends on:

• Percentage of blasts in bone marrow.

• Chromosomal abnormalities.

• Number of blood cell lines affected.

With ongoing research, survival rates are improving, and patients now have more options than ever before.

Myelodysplastic Syndromes are complex blood disorders that demand accurate diagnosis, personalized treatment, and long-term care. While there is currently no universal cure, therapies such as stem cell transplantation and hypomethylating agents are offering patients better survival and quality of life. Early detection and active disease monitoring are essential in improving outcomes. Raising awareness of MDS ensures that more people recognize the symptoms early and seek timely medical attention. With rapid advances in research, the future holds greater hope for patients and families affected by MDS.