Myelodysplastic Syndromes are a group of disorders in which the bone marrow does not produce enough healthy blood cells. Instead, it makes abnormal, immature cells (called blasts) that do not function properly. This leads to low counts of red blood cells, white blood cells, and platelets, causing anemia, infections, and bleeding problems. MDS is sometimes referred to as a “bone marrow failure disorder” and in some cases can progress to acute myeloid leukemia (AML).

Causes & Risk Factors

• Genetic mutations in bone marrow stem cells (common mutations: TP53, SF3B1, TET2, etc.).
• Older age (most patients are above 60 years).
• Prior chemotherapy or radiation therapy.
• Exposure to chemicals (like benzene) or heavy metals.
• Sometimes no clear cause (idiopathic).

Symptoms

• Fatigue and weakness (due to anemia).
• Pale skin.
• Frequent infections (low white cells).
• Easy bruising or bleeding (low platelets).
• Shortness of breath, weight loss.

Diagnosis

• Complete Blood Count (CBC): Shows low blood cell counts.
• Peripheral Blood Smear: Abnormal cell shapes.
• Bone Marrow Biopsy: To confirm diagnosis and assess blast percentage.
• Genetic Tests: To identify mutations and guide treatment.