Myelodysplastic Syndrome
What is Myelodysplastic Syndrome?
Myelodysplastic syndrome is a group of blood disorders that affect how your bone marrow makes blood cells. Your bone marrow is the spongy tissue inside your bones that creates red blood cells, white blood cells, and platelets. In myelodysplastic syndrome, the bone marrow produces blood cells that are abnormally shaped and do not work properly. These dysfunctional cells often die in the bone marrow or shortly after entering the bloodstream.
This process leads to low blood counts, especially low red blood cells that carry oxygen throughout your body. The condition is sometimes called preleukemia because it can progress to acute myeloid leukemia in some people. However, many people with myelodysplastic syndrome never develop leukemia. The condition mainly affects adults over age 60, though younger people can develop it too.
Myelodysplastic syndrome ranges from mild to severe based on how many blood cell types are affected and how abnormal the cells appear. Some people live with mild symptoms for years with regular monitoring. Others require treatment to manage anemia, prevent infections, or slow disease progression. Early detection through routine blood testing helps catch changes before serious complications develop.
Symptoms
- Fatigue and weakness that gets worse over time
- Shortness of breath during normal activities
- Pale skin or nail beds
- Frequent infections or infections that last longer than usual
- Easy bruising or unusual bleeding
- Small red spots under the skin called petechiae
- Dizziness or feeling lightheaded
- Rapid or irregular heartbeat
- Headaches and difficulty concentrating
- Cold hands and feet
Many people with early myelodysplastic syndrome have no symptoms at all. The condition is often discovered during routine blood work for another reason. Symptoms typically develop gradually as blood counts drop lower over weeks or months.
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Causes and risk factors
Myelodysplastic syndrome happens when DNA damage occurs in the bone marrow cells that produce blood cells. In most cases, doctors cannot identify a specific cause. This is called primary or de novo myelodysplastic syndrome. However, certain risk factors increase the likelihood of developing the condition. Previous chemotherapy or radiation therapy for cancer treatment can damage bone marrow cells years later. Exposure to chemicals like benzene, heavy metals, or certain pesticides may also increase risk. Smoking tobacco products raises your chances of developing myelodysplastic syndrome.
Age is the biggest risk factor, with most cases occurring in people over 60 years old. Some rare inherited genetic disorders can predispose people to myelodysplastic syndrome at younger ages. Men develop the condition slightly more often than women. People who have had certain autoimmune diseases or chronic inflammatory conditions may face higher risk. Unlike many blood disorders, myelodysplastic syndrome is not contagious and cannot be passed from person to person through contact.
How it's diagnosed
Diagnosis begins with a complete blood count test that measures your hemoglobin, hematocrit, white blood cells, and platelets. Low hemoglobin and hematocrit levels indicate anemia, which is the most common first sign of myelodysplastic syndrome. Your doctor will look at patterns in your blood counts over time, as progressive decreases in multiple cell types suggest bone marrow dysfunction. Rite Aid offers testing that measures hemoglobin and hematocrit levels, helping you monitor these critical markers regularly at Quest Diagnostics locations nationwide.
If blood tests show persistent abnormalities, your doctor will typically order a bone marrow biopsy to examine cells directly. This procedure removes a small sample of bone marrow to check for abnormal cell shape, chromosome changes, and the percentage of immature cells called blasts. Blood smear examination under a microscope can reveal abnormally shaped red blood cells. Genetic testing on bone marrow or blood cells helps identify specific mutations that affect prognosis and treatment options. Your doctor may also test vitamin B12 and folate levels to rule out other causes of anemia before confirming myelodysplastic syndrome.
Treatment options
- Regular monitoring with blood tests every few months if counts are stable
- Blood transfusions to raise red blood cell counts and relieve anemia symptoms
- Growth factor injections that stimulate bone marrow to produce more blood cells
- Medications called hypomethylating agents that help bone marrow produce healthier cells
- Immunosuppressive drugs for certain types of myelodysplastic syndrome
- Iron chelation therapy to remove excess iron from frequent transfusions
- Bone marrow or stem cell transplant for younger patients with aggressive disease
- Eating iron-rich foods like leafy greens, beans, and lean meats to support red blood cell production
- Getting adequate rest and pacing activities to manage fatigue
- Avoiding infections through good hand hygiene and staying up to date on vaccines
- Quitting smoking to reduce further damage to bone marrow cells
- Working with a hematologist who specializes in blood disorders for ongoing care
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Frequently asked questions
Myelodysplastic syndrome involves abnormal blood cell production in the bone marrow but with fewer than 20 percent immature blast cells. When blast cells reach 20 percent or higher, the condition is classified as acute myeloid leukemia. Some people with myelodysplastic syndrome never progress to leukemia, while others do over months or years. Regular monitoring helps detect any progression early.
The only potential cure for myelodysplastic syndrome is a bone marrow or stem cell transplant. This intensive treatment carries significant risks and is typically reserved for younger, healthier patients with aggressive disease. For most people, treatment focuses on managing symptoms, maintaining quality of life, and slowing disease progression. Many people live for years with proper monitoring and supportive care.
Testing frequency depends on your disease severity and how stable your blood counts are. People with low-risk myelodysplastic syndrome may need blood tests every 2 to 3 months. Those with higher-risk disease or changing counts often need monthly testing or more frequently. Your hematologist will create a monitoring schedule based on your specific situation and how your counts trend over time.
Low hemoglobin indicates anemia, which means your blood cannot carry enough oxygen to your tissues. In myelodysplastic syndrome, the bone marrow makes abnormal red blood cells that die quickly or do not function properly. This causes hemoglobin levels to drop progressively. Tracking hemoglobin over time helps doctors assess disease severity and decide when treatments like transfusions or medications are needed.
Most cases of myelodysplastic syndrome are not inherited and occur randomly due to acquired DNA damage in bone marrow cells. Rarely, certain inherited genetic syndromes like Fanconi anemia or familial platelet disorder increase the risk. If you have multiple family members with blood disorders or myelodysplastic syndrome at young ages, genetic counseling may be helpful. The vast majority of cases occur in older adults with no family history.
While lifestyle changes cannot cure myelodysplastic syndrome, they can support overall health and help manage symptoms. Eating a balanced diet with adequate protein, iron, and vitamins supports what blood cell production remains. Quitting smoking is important as tobacco further damages bone marrow. Managing stress, getting gentle exercise when energy allows, and preventing infections through hand hygiene all contribute to better outcomes alongside medical treatment.
Fatigue occurs because low red blood cell counts mean less oxygen reaches your muscles, brain, and organs. Your heart has to work harder to pump the available oxygen-carrying cells throughout your body. This creates a constant feeling of tiredness that does not improve with rest alone. As hemoglobin and hematocrit levels drop further, fatigue typically worsens and begins to interfere with daily activities.
Life expectancy varies widely based on disease subtype, risk score, age, and overall health. Some people with low-risk myelodysplastic syndrome live 5 to 10 years or longer with monitoring and supportive care. Higher-risk forms may progress more quickly, especially if they transform to acute leukemia. Prognostic scoring systems that consider blood counts, bone marrow blast percentage, and genetic changes help doctors estimate individual outcomes and plan treatment.
See a doctor if you have persistent low blood counts on multiple tests, especially if hemoglobin or hematocrit levels keep dropping. New symptoms like unusual fatigue, frequent infections, or easy bruising warrant medical evaluation. If routine blood work shows unexplained abnormalities in red blood cells, white blood cells, or platelets, ask for referral to a hematologist. Early evaluation helps identify myelodysplastic syndrome before severe anemia or complications develop.
Blood transfusions are generally safe and commonly used to treat severe anemia in myelodysplastic syndrome. They quickly raise hemoglobin levels and relieve symptoms like fatigue and shortness of breath. The main risk with frequent transfusions is iron overload, where excess iron accumulates in organs over time. Doctors monitor iron levels and may prescribe chelation therapy to remove excess iron if you require regular transfusions for extended periods.