What is it? This rare, serious blood disorder is a type of bone marrow failure. It leaves the body unable to produce enough of all three types of blood cells. Severe forms can be life-threatening. Aplastic anemia can have a variety of causes. Sometimes it’s caused by an inherited genetic defect, but most often it develops for unknown reasons. Risk factors include previous radiation therapy or chemotherapy, exposure to toxic chemicals or having an autoimmune disorder.

Symptoms:

• Fatigue
• Infections
• Bruising
• Excessive bleeding from cuts, nosebleeds or gums
• Pale skin

Treatments:

• Medications to suppress the immune system to keep white blood cells from attacking bone marrow.
• Blood transfusion to replace red blood cells and platelets.
• Bone marrow/stem cell transplant to replace diseased cells with healthy ones that can rebuild your immune system.
• Hormones or hormone-like substances (growth factors) to spur blood cell production. These may be given with a shot or in an IV.

What is it? Fanconi anemia is a rare type of aplastic anemia. Doctors usually diagnose this inherited genetic disorder in childhood, often before age 12. The disorder leads to bone marrow failure and an inability to produce enough of all three types of blood cells. Though most patients live to adulthood, Fanconi anemia shortens average life expectancy. Fanconi anemia patients are more likely than other people to develop cancer, in particular acute myeloid leukemia (AML). Children with Fanconi anemia usually need a bone marrow/stem cell transplant.

Symptoms:

• Physical abnormalities
• Skin discoloration
• Small head size (microcephaly)
• Gastrointestinal problems

Treatments:

• Hormones or hormone-like substances (growth factors), given in a shot or IV, to spur blood cell production.
• Blood transfusion to replace red blood cells and platelets.
• Bone marrow/stem cell transplant to replace diseased cells with healthy ones that can rebuild your immune system.

What is it? Histiocytosis is a group of rare blood disorders in which the body makes and collects too many histiocytes, a type of white blood cell. This can damage soft tissues and bones, and may cause tumors. Histiocytosis can be difficult to diagnose because it has many forms with varied symptoms. It also behaves differently in children and adults. The main types include Langerhans cell histiocytosis, which most often affects children, and hemophagocytic lymphohistiocytosis. Both have subtypes.

Symptoms:

• Lesions or sores in bone, mouth or gums
• Skin redness, rash or oozing
• Chest pain and shortness of breath
• Chronic ear infections and hearing loss
• Headaches, dizziness or blurred vision

Treatments:

• Long-term monitoring for less severe cases (such as types of Langerhans histiocytosis) before pursuing other treatments.
• Medications, such as steroids, to reduce inflammation.
• In more severe cases, chemotherapy — given in a shot, by mouth or applied to the skin — to destroy diseased cells.
• Low-dose radiation therapy to destroy diseased cells.
• Surgery to remove diseased cells or tissue.

What are they? This group of conditions is considered a form of cancer. It involves a type of bone marrow failure in which marrow cells are damaged and can’t make new blood cells. This leaves the body with abnormal cells and low blood counts. Sometimes the damaged cells grow but die early. About one in three people with MDS develops acute myeloid leukemia (AML). MDS is more common in men, older people and people with certain inherited syndromes. Those who have been smokers or have been exposed to chemicals such as benzene are also at greater risk.

Symptoms:

• Weight loss and loss of appetite
• Fever
• Fatigue
• Dizziness
• Shortness of breath
• Frequent infections
• Easy bruising and bleeding (from gums or nose, for example)
• Headaches

Treatments:

• Hormones or hormone-like medications (growth factors), given in a shot or IV, to stimulate the production of blood cells.
• One or more blood transfusions or medications to prevent complications related to low blood counts, such as fatigue and clotting problems.
• Chemotherapy medications to destroy diseased cells. Depending on the medication, they may be given in a shot, IV or pill.
• Bone marrow/stem cell transplant to replace diseased cells with healthy ones that can rebuild your immune system.

What is it? This blood cancer, a form of chronic leukemia, results from a genetic mutation that leads to scar tissue forming in bone marrow. This disrupts the body’s ability to make blood cells. Myelofibrosis is most common in people older than 50. Exposure to chemicals such as benzene is another risk factor.

Symptoms:

• Pain
• Weakness
• Fatigue
• Enlarged spleen

Treatments:

• Blood transfusions and medications to prevent problems caused by low blood counts.
• Hormones or hormone-like medications (growth factors), given in a shot or IV, to stimulate the production of blood cells.
• Splenectomy, or surgery to remove the spleen. Myelofibrosis can result in an enlarged spleen, causing discomfort and reducing blood counts.
• Chemotherapy medications, given by IV, to destroy diseased cells.
• Radiation therapy to destroy cancer cells.

What are they? In this group of rare blood cancers, a genetic mutation causes bone marrow to make too many blood cells or platelets. This can affect blood flow and lead to acute leukemia. Risk factors include being middle age or older, and exposure to chemicals such as benzene, certain pesticides or solvents, and heavy metals such as lead or mercury.

Symptoms:

• Weakness
• Fatigue
• Abdominal pain from enlarged spleen
• Unexplained weight loss

Treatments:

• Splenectomy, or surgery to remove the spleen, which can become enlarged.
• Blood transfusions and medications to prevent side effects caused by low blood counts.
• Hormones or hormone-like medications (growth factors), given in a shot or IV, to promote the production of blood cells.
• Chemotherapy medications, given by IV, to destroy diseased cells.
• Radiation therapy to destroy cancer cells.
• Bone marrow/stem cell transplant

What is it? A genetic change causes this rare blood disorder, a type of bone marrow failure that leaves red blood cells without their protective protein shield. Without the shield, the cells break apart. PNH leads to blood clots and poor bone marrow function. In many cases, it can start as aplastic anemia (see above) or follow treatment for aplastic anemia. PNH mostly affects adults but can develop at any age.

Symptoms:

• Fatigue and weakness
• Shortness of breath
• Bruising or bleeding easily
• Blood clots (thrombosis)
• Infections
• Headache
• Fever
• Jaundice
• Severe leg, chest or abdominal pain

Treatments:

• Blood transfusions and medications to address issues, such as fatigue, caused by low blood counts.
• Chemotherapy medications, given by IV, to destroy diseased cells.
• Bone marrow/stem cell transplant to replace diseased cells with healthy ones that can rebuild your immune system.

What is it? In this rare blood disorder, bone marrow produces too many mast cells, a type of immune cell that plays a role in allergic reactions. The cells then build up in skin, bones and organs, where they can release substances that cause symptoms. There are four main types of systemic mastocytosis, which vary in severity. Most patients with this condition are adults.

Symptoms:

• Serious allergic response, including hives and swelling
• Itching
• Nausea, vomiting or diarrhea
• Fainting
• Headache
• Flushed skin
• Bone or joint pain

Treatments:

• Long-term monitoring to check whether additional treatment is needed.
• Medications such as antihistamines to alleviate allergic symptoms.
• Chemotherapy medications, given by IV, to destroy diseased cells.

What is it? This rare form of non-Hodgkin lymphoma, a blood cancer, starts in a type of white blood cell called a lymphocyte. Blood plasma cells make abnormal amounts of protein that can cause the blood to thicken, disrupting circulation. The disease also affects the body’s ability to make red blood cells. Waldenstrom macroglobulinemia tends to develop slowly and is highly treatable when caught early. Risk increases with age, and most patients are diagnosed after age 60. It affects more men than women and is more common among white people than other races or ethnicities.

Symptoms:

• Excessive bleeding
• Bruising
• Weight loss or loss of appetite
• Fever or night sweats
• Nerve pain (neuropathy)

Treatments:

• Plasmapheresis to remove abnormal cells. This involves withdrawing blood and using a machine to separate and discard the plasma (the liquid part that contains the abnormal cells), then returning the rest of the blood.
• Chemotherapy medications, given by IV, to destroy cancer cells.
• Targeted medications, such as Gleevec, to destroy cells at the molecular level, leaving healthy cells mostly alone.
• Immunotherapy medications to help the immune system attack and weaken or destroy diseased cells while avoiding healthy ones.
• Radiation therapy to destroy diseased cells.
• Bone marrow/stem cell transplant to replace diseased cells with new ones that can rebuild your immune system.

• Anemia
• B12 deficiency
• Bleeding disorders
• Erythrocytosis
• Hemoglobinopathies
• Hemolytic anemias
• Hemophilia
• Iron deficiency and overload
• Neutropenia
• Platelet disorders
• Sickle cell anemia
• Thrombocytopenia
• Thrombocytosis
• Thrombotic (clotting) disorders