Learn About Blood Disorders

Blood disorders involve problems in your blood or bone marrow, the fatty area inside your bones that produces new red blood cells, white blood cells, and platelets. They are sometimes called blood dyscrasias.

In general, when physicians refer to something as a blood disorder, they are implying that the condition is not cancerous (i.e., leukemia or lymphoma). Blood disorders include anemia, thrombocytopenia, sickle cell disease, von Willebrand's disease, hemophilia, and others.

This article will explore the types, causes, symptoms, diagnosis, and treatment of blood disorders.

What Are the Blood-Based Disorders?

When something goes wrong with any of these cell types or with the clotting factors in the plasma (the liquid part of the blood), you may be diagnosed with a blood disorder. The most common types are anemia, bleeding disorders such as hemophilia, and blood clots. Blood disorders are defined by changes in any of the parts of your blood:

• White blood cells help fight infections. They include neutrophils, lymphocytes, monocytes, eosinophils, and basophils.
• Red blood cells carry oxygen to tissues.
• Platelets help stop bleeding.
• Plasma carries various components, including procoagulant factors (that help stop bleeding) and anticoagulant factors (that prevent clot formation).

The following are common blood disorders:

• Neutropenia is a decreased number of neutrophils, a type of white blood cell. The neutrophils are an essential part of your immune system that helps fight off bacterial infections. The most common cause of neutropenia is chemotherapy given to treat cancer. Other causes include autoimmune neutropenia, Shwachman-Diamond syndrome, and cyclic neutropenia.
• Anemia results from a decreased number of red blood cells or hemoglobin—the protein that carries oxygen. It can also result from iron deficiency, sickle cell disease, or thalassemia, as well as a number of other conditions and diseases.
• (PV)Polycythemia vera is a condition in which the bone marrow makes an excessive number of red blood cells. This increase can elevate the risk of clot formation.
• Immune thrombocytopenic purpura (ITP) is a condition in which your platelets are marked as “foreign” and are, therefore, destroyed. This can lead to very low platelet counts and bleeding.
• Thrombocytosis refers to an increased number of platelets. Fortunately, most of the time, elevated platelet counts are caused by something else (reactive thrombocytosis) and will get better when the underlying condition improves. More concerning, however, are blood conditions like essential thrombocythemia (ET), where your bone marrow makes an extremely high number of platelets, increasing the risk of developing a blood clot and sometimes bleeding.
• Hemophilia is an inherited condition resulting in decreased procoagulant factors (specifically, 8, 9, and 11), which causes easy bleeding. People with hemophilia are sometimes referred to as “free bleeders.”
• Blood clots (thrombosis) can occur anywhere in the body. In the brain, it is called a stroke; in the heart, it is called a heart attack (or myocardial infarction). Deep vein thrombosis (DVT) commonly refers to blood clots in the arms or legs.

Causes of Blood Disorders

Blood disorders can be inherited or acquired.

Inherited Blood Disorders

Inherited blood disorders are those that are genetically passed down from parents. They include:

• Sickle cell disease
• von Willebrand's disease
• Hemophilia
• Blood factor deficiencies

Acquired Blood Disorders

Acquired blood disorders result from environmental factors or other health conditions. Sometimes, they develop due to:

• Infection
• Toxic exposure
• Drug side effects
• Lack of certain nutrients in the diet, such as iron, vitamin K, or vitamin B12
  

Symptoms of Blood Disorders

Symptoms of blood disorders vary widely depending on which blood component is affected. Some blood disorders cause few symptoms, while others are responsible for more.

For example:

• Anemia (low red blood cells) can cause fatigue, shortness of breath, or increased heart rate.
• Thrombocytopenia (low platelets) can cause increased bruising or bleeding from the mouth or nose.
• Hemophilia (poor clotting) can also cause increased bleeding but is known to target muscles and joints without significant injury specifically.
• Blood clots (inappropriate clotting) in the arms or legs may cause swelling and pain.

Diagnosis of Blood Disorders

Blood disorders are predominantly seen by hematologists—physicians who specialize in diagnosing and treating problems in your blood and/or bone marrow.

Your physician will examine you and your symptoms to determine the most likely diagnosis. Most of the time, blood work is needed. Sometimes, blood disorders are found in lab work drawn for other reasons, such as an annual physical exam.

Lab Work

The most commonly used test to diagnose blood disorders is the complete blood count (CBC). The CBC looks at the three types of blood cells and determines if any are increased or decreased or if more than one blood cell is affected. A blood smear may also be included with the CBC, with a microscopic examination to provide additional helpful information.

For bleeding or clotting problems, your physician will likely order coagulation blood tests, which include the prothrombin time (PT) and the partial thromboplastin time (PTT). If the PT or PTT is prolonged (indicating that you are more likely to bleed than others), further evaluation is needed. Your physician may order levels of individual coagulation factors or assess the function of your platelets.

Imaging

Blood clots are a little different. To diagnose them, your physician must image the area in question. An ultrasound is used to assess for possible clots in the arms or legs. Computerized tomography (CT) or magnetic resonance imaging (MRI) scans are commonly used in the lungs or brain.

Bone Marrow Biopsy

A bone marrow biopsy may be needed in some cases to help make a diagnosis. This is usually done by aspirating marrow from the hip.

Treating Blood Disorders

Treatment is determined by your specific diagnosis. Some chronic blood disorders have no specific treatment but may require treatment during acute events. For example:

• Anemia caused by iron deficiency will be treated with iron supplementation. Beta thalassemia major, an inherited form of anemia, is treated with monthly blood transfusions.
• Hemophilia can be treated with coagulation factor replacement products that can be used to treat individual bleeds or, when given on a regular basis, prevent bleeds (prophylaxis).
• Polycythemia vera is treated by phlebotomy—drawing a pint of blood intermittently to keep the number of red cells from dropping below the dangerous level.
• Blood clots may be treated with anticoagulant therapy (blood thinners). Some cases may require catheter-directed thrombolysis to dissolve the blockage.
• Thrombocythemia may be treated with aspirin or might require medications such as hydroxyurea, interferon alfa, or anagrelide (rarely used).
• Immune thrombocytopenia might be treated with corticosteroids such as prednisone or medications that raise the platelet count. Removing the spleen is another treatment performed when needed.

It is important to discuss with your physician what the best treatment is for you and your diagnosis.

Summary

Blood disorders can be genetic or acquired, caused by disease or environmental factors like nutritional deficiencies or drug side effects. Symptoms vary depending on the underlying cause of the blood disorder, but they might include fatigue, shortness of breath, increased bruising, and joint swelling and pain.

Getting the appropriate diagnosis is essential to finding the proper treatment. Various medications can help alleviate blood disorders and address any underlying health condition. If you're concerned you might have symptoms of a blood disorder, see a healthcare provider for assessment.