mds

Your bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. It contains immature cells, called stem cells. The stem cells can develop into the red blood cells that carry oxygen through your body, the white blood cells that fight infections, and the platelets that help with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy blood cells. Many of them die in the bone marrow. This means that you do not have enough healthy cells, which can lead to infection, anemia, or easy bleeding.

Myelodysplastic syndromes often do not cause early symptoms and are sometimes found during a routine blood test. If you have symptoms, they may include:

• Shortness of breath
• Weakness or feeling tired
• Skin that is paler than usual
• Easy bruising or bleeding
• Pinpoint spots under the skin caused by bleeding
• Fever or frequent infections

Myelodysplastic syndromes are rare. People at higher risk are over 60, have had chemotherapy or radiation therapy, or have been exposed to certain chemicals. Treatment options include transfusions, drug therapy, chemotherapy, and blood or bone marrow stem cell transplants.

NIH: National Cancer Institute

Muscular dystrophy (MD) is a group of more than 30 genetic diseases. They cause weakness of the muscles. Over time, the weakness gets worse and can cause trouble walking and doing daily activities. Some types of MD can also affect other organs.

There are many different types of MD. Some of the more common types include:

• Duchenne muscular dystrophy, which is the most common childhood form. It is severe and affects boys more often than girls. The symptoms usually start between ages 3 and 6.
• Becker muscular dystrophy, which is similar to Duchenne but is less severe and gets worse more slowly. It often starts in the teenage years.
• Congenital muscular dystrophies, which are present at birth or before age 2. They can be mild or severe.
• Facioscapulohumeral muscular dystrophy, which often starts in the teenage years. At first, it affects the muscles of the face, shoulders, and upper arms.

Each of the types of MD can be different in many ways, such as:

• Who is more likely to get them
• Which muscles they affect
• When they appear, such as in infancy, childhood, middle age, or later
• What the symptoms are
• How serious the symptoms are
• How quickly they get worse
• Whether they run in families
• Whether they affect other organs

Even within the same type of MD, people can have different symptoms.

MD is genetic, meaning that it caused by a change in one or more genes. Gene changes are also called gene variants or mutations. The gene changes in MD affect proteins that strengthen and protect muscles.

There are different gene changes that cause each type of MD. And sometimes people who have the same type of MD can have different gene changes.

Muscular dystrophy can run in families, or you can be the first in your family to have a muscular dystrophy.

To find out if you or your child has MD, your health care provider may use:

• A medical and family history
• A physical exam
• Blood and urine tests, including genetic tests and tests for certain enzymes that may be released by damaged muscles
• Muscle biopsies
• Electromyography and nerve conduction studies to find out if muscles are responding the right way to nerve signals
• Heart testing, such as an electrocardiogram (EKG), since some types of MD can cause heart problems
• Exercise tests to measure muscle strength and breathing and detect any increased rates of certain chemicals following exercise
• Imaging tests such as an MRI to look at muscle quality and bulk and measure fatty replacement of muscle tissue

There is no cure for muscular dystrophy. Treatment can help with the symptoms and prevent complications. It usually includes a combination of therapies, such as:

• Physical therapy to help keep muscles flexible and strong
• Occupational therapy to relearn lost motor skills and learn ways to work around weakened muscles
• Respiratory care, such as breathing exercises, oxygen therapy, and ventilators
• Speech therapy to help with speech and swallowing problems
• Assistive devices, such as wheelchairs, splints and braces, and walkers
• Medicines to help delay damage to muscles or minimize the symptoms of MD
• Surgery to treat some of the conditions associated with MD, such as heart problems, scoliosis, and cataracts

NIH: National Institute of Neurological Disorders and Stroke

Leukemia is a term for cancers of the blood cells. Leukemia starts in blood-forming tissues such as the bone marrow. Your bone marrow makes the cells which will develop into white blood cells, red blood cells, and platelets. Each type of cell has a different job:

• White blood cells help your body fight infection
• Red blood cells deliver oxygen from your lungs to your tissues and organs
• Platelets help form clots to stop bleeding

When you have leukemia, your bone marrow makes large numbers of abnormal cells. This problem most often happens with white blood cells. These abnormal cells build up in your bone marrow and blood. They crowd out the healthy blood cells and make it hard for your cells and blood to do their work.

Acute myeloid leukemia (AML) is a type of acute leukemia. "Acute" means that the leukemia usually gets worse quickly if it's not treated. In AML, the bone marrow makes abnormal myeloblasts (a type of white blood cell), red blood cells, or platelets. When the abnormal cells crowd out the healthy cells, it can lead to infection, anemia, and easy bleeding. The abnormal cells can also spread outside the blood to other parts of the body.

There are several different subtypes of AML. The subtypes are based on how developed the cancer cells are when you get your diagnosis and how different they are from normal cells.

AML happens when there are changes in the genetic material (DNA) in bone marrow cells. The cause of these genetic changes is unknown. However, there are certain factors that raise your risk of AML.

The factors that raise your risk of AML include:

• Being male
• Smoking, especially after age 60
• Having had chemotherapy or radiation therapy
• Treatment for acute lymphoblastic leukemia (ALL) as a child
• Exposure to the chemical benzene
• A history of another blood disorder such as myelodysplastic syndrome

The signs and symptoms of AML include:

• Fever
• Shortness of breath
• Easy bruising or bleeding
• Petechiae, which are tiny red dots under the skin. They are caused by bleeding.
• Weakness or feeling tired
• Weight loss or loss of appetite
• Bone or joint pain, if the abnormal cells build up near or inside the bones

Your health care provider may use many tools to diagnose AML and figure out which subtype you have:

• A physical exam
• A medical history
• Blood tests, such as a complete blood count (CBC) and blood smear
• Bone marrow tests. There are two main types - bone marrow aspiration and bone marrow biopsy. Both tests involve removing a sample of bone marrow and bone. The samples are sent to a lab for testing.
• Genetic tests to look for gene and chromosome changes

If you are diagnosed with AML, you may have additional tests to see whether the cancer has spread. These include imaging tests and a lumbar puncture, which is a procedure to collect and test cerebrospinal fluid (CSF).

Treatments for AML include:

• Chemotherapy
• Radiation therapy
• Chemotherapy with stem cell transplant
• Other anticancer medicines

Which treatment you get often depends on which subtype of AML you have. Treatment is usually done in two phases:

• The goal of the first phase is to kill the leukemia cells in the blood and bone marrow. This puts the leukemia into remission. Remission means that the signs and symptoms of cancer are reduced or have disappeared.
• The second phase is known as post-remission therapy. Its goal is to prevent a relapse (return) of the cancer. It involves killing any remaining leukemia cells that may not be active but could begin to regrow.

NIH: National Cancer Institute

Aplastic anemia is a rare but serious blood disorder. If you have it, your bone marrow doesn't make enough new blood cells. It happens when there is damage to stem cells inside your bone marrow. There are different types of aplastic anemia, including Fanconi anemia.

The causes of aplastic anemia can include:

• Autoimmune disorders, which are the most common cause
• Certain inherited gene changes, such as the one that can cause Fanconi anemia
• Toxic substances, such as pesticides, arsenic, and benzene
• Radiation therapy and chemotherapy for cancer
• Certain medicines
• Viral infections such as hepatitis, Epstein-Barr virus, or HIV
• Pregnancy

In many people, the cause is unknown. This is called idiopathic aplastic anemia.

Aplastic anemia can develop suddenly or slowly. It can be mild or severe. The symptoms of aplastic anemia can include:

• Fatigue
• Weakness
• Dizziness
• Shortness of breath
• Easy bruising or bleeding

Aplastic anemia can cause other problems, including frequent infections and bleeding. It raises your risk of developing a serious blood disorder.

If not treated, aplastic anemia can also lead to heart problems such as an arrhythmia (a problem with the rate or rhythm of your heartbeat), an enlarged heart, or heart failure.

To find out if you have aplastic anemia, your doctor will:

• Take your medical and your family medical histories
• Do a physical exam
• Order tests, such as tests to check if you have low numbers of cells in your bone marrow and blood

If you have aplastic anemia, your doctor will create a treatment plan for you. The plan will be based on how severe the anemia is and what is causing it. Treatments can include:

• Blood transfusions
• Blood and marrow stem cell transplants
• Medicines to suppress your immune system

Because of the risk of blood disorders, your doctor will monitor your condition and screen you for blood disorders regularly.

NIH: National Heart, Lung, and Blood Institute

If you have anemia, your blood does not carry enough oxygen to the rest of your body. The most common cause of anemia is not having enough iron. Your body needs iron to make hemoglobin. Hemoglobin is an iron-rich protein that gives the red color to blood. It carries oxygen from the lungs to the rest of the body.

Anemia has three main causes: blood loss, lack of red blood cell production, and high rates of red blood cell destruction.

Conditions that may lead to anemia include:

• Heavy periods
• Pregnancy
• Ulcers
• Colon polyps or colon cancer
• Inherited disorders
• A diet that does not have enough iron, folic acid or vitamin B12
• Blood disorders such as sickle cell anemia and thalassemia, or cancer
• Aplastic anemia, a condition that can be inherited or acquired
• G6PD deficiency, a metabolic disorder

Anemia can make you feel tired, cold, dizzy, and irritable. You may be short of breath or have a headache.

Your doctor will diagnose anemia with a physical exam and blood tests. Treatment depends on the kind of anemia you have.

NIH: National Heart, Lung, and Blood Institute

Your blood is living tissue made up of liquid and solids. The liquid part, called plasma, is made of water, salts and protein. Over half of your blood is plasma. The solid part of your blood contains red blood cells, white blood cells and platelets.

Blood disorders affect one or more parts of the blood and prevent your blood from doing its job. They can be acute or chronic. Many blood disorders are inherited. Other causes include other diseases, side effects of medicines, and a lack of certain nutrients in your diet.

Types of blood disorders include:

• Platelet disorders, excessive clotting, and bleeding problems, which affect how your blood clots
• Anemia, which happens when your blood does not carry enough oxygen to the rest of your body
• Cancers of the blood, such as leukemia and myeloma
• Eosinophilic disorders, which are problems with one type of white blood cell.

Bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. It contains stem cells. The stem cells can develop into the red blood cells that carry oxygen through your body, the white blood cells that fight infections, and the platelets that help with blood clotting.

With bone marrow disease, there are problems with the stem cells or how they develop:

• In leukemia, a cancer of the blood, the bone marrow makes abnormal white blood cells
• In aplastic anemia, the bone marrow doesn't make red blood cells
• In myeloproliferative disorders, the bone marrow makes too many white blood cells
• Other diseases, such as lymphoma, can spread into the bone marrow and affect the production of blood cells

Causes of bone marrow diseases include genetics and environmental factors. Tests for bone marrow diseases include blood and bone marrow tests. Treatments depend on the disorder and how severe it is. They might involve medicines, blood transfusions or a bone marrow transplant.

Hemochromatosis is a disease in which too much iron builds up in your body. Your body needs iron but too much of it is toxic. If you have hemochromatosis, you absorb more iron than you need. Your body has no natural way to get rid of the extra iron. It stores it in body tissues, especially the liver, heart, and pancreas. The extra iron can damage your organs. Without treatment, it can cause your organs to fail.

There are two types of hemochromatosis. Primary hemochromatosis is an inherited disease. Secondary hemochromatosis is usually the result of something else, such as anemia, thalassemia, liver disease, or blood transfusions.

Many symptoms of hemochromatosis are similar to those of other diseases. Not everyone has symptoms. If you do, you may have joint pain, fatigue, general weakness, weight loss, and stomach pain.

Your doctor will diagnose hemochromatosis based on your medical and family histories, a physical exam, and the results from tests and procedures. Treatments include removing blood (and iron) from your body, medicines, and changes in your diet.

NIH: National Heart, Lung, and Blood Institute

Thalassemias are inherited blood disorders. If you have one, your body makes fewer healthy red blood cells and less hemoglobin. Hemoglobin is a protein that carries oxygen to the body. That leads to anemia. Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent.

Thalassemias can be mild or severe. Some people have no symptoms or mild anemia. The most common severe type in the United States is called Cooley's anemia. It usually appears during the first two years of life. People with it may have severe anemia, slowed growth and delayed puberty, and problems with the spleen, liver, heart, or bones.

Doctors diagnose thalassemias using blood tests. Treatments include blood transfusions and treatment to remove excess iron from the body. If you have mild symptoms or no symptoms, you may not need treatment. In some severe cases, you may need a bone marrow transplant.

NIH: National Heart, Lung, and Blood Institute