Symptoms, Causes, Diagnosis and treatment

Blood disorders are associated with problems in the blood or bone marrow, the fatty area within the bones that makes new red blood cells, white blood cells, and platelets. When something goes wrong with any of these cell types or with 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, blood clotting disorders such as hemophilia, and blood clots.

In general, when doctors call something a blood disorder, they imply that the condition is not malignant (i.e., leukemia, lymphoma etc.).

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Types and causes

Blood disorders may run in families or be acquired. Sometimes, you develop a blood disease due to infection, toxic exposure, side effects from medications, or lack of certain nutrients in your diet (such as iron, vitamin K, or vitamin B12).

Blood disorders are defined by changes in any part of your blood:

  • White blood cells. that help fight infections: they include neutrophils, lymphocytes, monocytes, eosinophils and basophils.
  • Erythrocytes that carry oxygen to the tissues.
  • Platelets, that help stop bleeding
  • Plasma, contains several components, including procoagulant factors (which help stop bleeding) and anticoagulant factors(which prevent blood clots)

Some common blood disorders include:

  • Neutropenia – this is a decrease in the number of neutrophils, a type of white blood cell. Neutrophils are an important part of your immune system that fights bacterial infections. There are many causes, including autoimmune neutropenia, Schwachman-Diamond syndrome, and cyclic neutropenia.
  • Anemia it occurs as a result of a decrease in the number of red blood cells or hemoglobin, a protein that carries oxygen. Anemia may result from iron deficiency, sickle cell disease, or thalassemia.
  • Polycythemia Vera (PV) – this is a condition in which your bone marrow produces too many red blood cells. This increase may increase the risk of blood clots.
  • Immune thrombocytopenic purpura (ITP) – this is a condition in which your platelets are marked as “foreign” and are therefore destroyed. This can cause a very low platelet count and bleeding.
  • Thrombocytosis refers to increased platelets. Fortunately, in most cases, the increased platelet count is caused by something else (reactive thrombocytosis) and will improve when the underlying condition improves. More worrying, however, are blood conditions, such as essential thrombocythemia (ET), in which extremely high amounts of platelets form in the bone marrow, increasing the risk of blood clots and sometimes bleeding.
  • Hemophilia – it is an inherited disease that leads to a decrease in the number of procoagulant factors (in particular, 8, 9 and 11). This leads to mild bleeding. People with hemophilia are sometimes called ” free blood suckers.”
  • Blood clots (thrombosis) they can form anywhere on 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) usually refers to blood clots in the hands or feet.

Some blood disorders are between benign and malignant (malignant), sometimes called precancerous, and can develop into cancer. Leukemias it is usually not included in the broader term of blood diseases, as it is a blood/bone marrow cancer.


The symptoms of blood disorders vary widely depending on the affected blood component. Some blood disorders cause few symptoms, while others cause more.

For example:

  • Anemia (low red blood cell count) it can cause fatigue, shortness of breath, or heart palpitations.
  • Thrombocytopenia (low platelets) it may cause increased bruising or bleeding from the mouth or nose.
  • Hemophilia (poor blood clotting) it can also cause increased bleeding, but it is known to specifically target muscles and joints without significant injury.
  • Blood clots (incorrect clotting) hands or feet can cause swelling and pain.


Blood disorders are mainly observed hematologists – doctors who specialize in diagnosing and treating problems with your blood and/or bone marrow.

Your doctor will examine you and your symptoms to determine the most likely diagnosis. Most of the time a blood test is required. Sometimes, blood disorders are found in laboratory work for other reasons, such as an annual physical exam.

The most commonly used test to diagnose blood diseases is complete blood test (CBC). The CBC examines three types of blood cells and determines if any of them are enlarged or decreased, or if more than one blood cell is affected. The blood smear may also be included in the CBC with a microscopic examination to provide additional useful information.

For bleeding or clotting problems, your doctor will likely Order blood tests for clotting, including prothrombin time (PT) e partial thromboplastin time (PTT). If the TTP or TTP is prolonged (indicating that you are more likely to bleed than other people), additional evaluation is needed. Your doctor may prescribe individual clotting factor levels or evaluate the function of your platelets.

Blood clots are slightly different. To diagnose them, your doctor will need to take a picture of the area in question. On the hands or feet is used ultrasound to evaluate possible blood clots. In the lungs or brain it is commonly used computed tomography (CT) or magnetic resonance imaging (MRI).

In some cases, it may be necessary bone biopsy brain to help make a diagnosis. This is usually done by vacuuming the bone marrow from the thigh.


Treatment is determined by your specific diagnosis. Some chronic blood diseases do not have a specific treatment, but may require treatment during acute events. For example:

  • Anemia caused by iron deficiency will be treated with iron supplements. Beta-thalassemia major, an inherited form of anemia, is treated with monthly blood transfusions.
  • Hemophilia can be treated with medications that replace clotting factor that can be used to treat individual bleeding or, if taken regularly, to prevent bleeding (prevention).
  • Polycythemia Vera is treated with bleeding, taking a pint of blood each week until the red blood cell count drops below a dangerous level.
  • Blood clots can be treated with anticoagulant therapy (anticoagulants). In some cases, catheter thrombolysis may be needed to remove the blockage.
  • Thrombocythemia can be treated with aspirin or medications such as hydroxyurea, interferon alpha, or anagrelide (rarely used) may be required.
  • Immune thrombocytopenia can be treated with corticosteroids such as prednisolone or drugs that increase the platelet count. Spleen removal is another treatment that is done when needed.

It is important to discuss with your health care provider which treatment is best for you and your diagnosis.

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The news that you or a loved one may have a blood disorder can be alarming. Sometimes this stress increases when you are referred to a cancer center for an appointment with a specialist. This does not necessarily mean that your doctor thinks you have cancer. Most hematologists are also trained in Oncology (diagnosis and treatment of cancer) and work in clinics with oncologists. Hopefully, a better understanding of what blood disorders are will ease some of your problems.

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