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Essential thrombocytosis

Essential thrombocytosis (ET, essential thrombocythemia) is a rare and chronic blood disorder characterized by the overproduction of megakaryocytes (the precursor cell for platelets). Most of these patients will have platelet counts over 600,000 per cubic mm. In some cases this disorder may be progressive, and (very rarely) evolves into acute leukemia or myelofibrosis. more...

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Pathophysiology

The pathologic basis for this disease is unknown. However, essential thrombosis resembles polycythemia vera in that cells of the megakaryocytic series are more sensitive to growth factors. Platelets derived from the abnormal megakaryocytes do not function properly, which contributes to the clinical features of bleeding and thrombosis.

Recently, in 2005, a mutation in the JAK2 kinase (V617F) was found by multiple research groups (Baxter et al., 2005; Levine et al., 2005) to be associated with essential thrombocytosis. JAK2 is a member of the Janus kinase family. This mutation be helpful in making a diagnosis or as a target for future therapy.

Clinical findings and symptoms

Essential thrombocytosis is the most rare of the myeloproliferative family of diseases. The major symptoms are bleeding and thrombosis. Other symptoms include an enlarged spleen (splenomegaly), epistaxis (nosebleeds) and bleeding from gums and gastrointestinal tract. One characteristic symptom is throbbing and burning of the hands and feet due to the occlusion of small arterioles by platelets (erythromelalgia).

Clinical course

Essential thrombocytosis is a slowly progressing disorder with long asymptomatic periods punctuated by thrombotic or hemorrhagic crises. It is diagnosed at a rate of about 2 to 3 per 100,000 individuals and usually affects middle aged to elderly individuals (although it can affect children and young adults). The median survival time for patients with this disorder is 12 to 15 years.

Treatment

In cases where patients have life-threatening complications, the platelet count can be reduced rapidly through platelet apheresis (a procedure that removes platelets from the blood directly). Long-term decreases in platelet counts can reduce bleeding and clotting complications. Common medications include hydroxyurea, interferon-alpha, or anagrelide. Aspirin may also help decrease clotting.

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Phlebotomy
From Gale Encyclopedia of Medicine, 4/6/01 by Paula Anne Ford-Martin

Definition

Phlebotomy is the act of drawing or removing blood from the circulatory system through a cut (incision) or puncture in order to obtain a sample for analysis and diagnosis. Phlebotomy is also done as part of the patient's treatment for certain blood disorders.

Purpose

Treatment

Phlebotomy that is part of treatment (therapeutic phlebotomy) is performed to treat polycythemia vera, a condition that causes an elevated red blood cell volume (hematocrit). Phlebotomy is also prescribed for patients with disorders that increase the amount of iron in their blood to dangerous levels, such as hemochromatosis, hepatitis B, and hepatitis C. Patients with pulmonary edema may undergo phlebotomy procedures to decrease their total blood volume.

Diagnosis

Phlebotomy is also used to remove blood from the body during blood donation and for analysis of the substances contained within it.

Precautions

Patients who are anemic or have a history of cardiovascular disease may not be good candidates for phlebotomy.

Description

Phlebotomy, which is also known as venesection, is performed by a nurse or a technician known as a phlebotomist. Blood is usually taken from a vein on the back of the hand or inside of the elbow. Some blood tests, however, may require blood from an artery. The skin over the area is wiped with an antiseptic, and an elastic band is tied around the arm. The band acts as a tourniquet, slowing the blood flow in the arm and making the veins more visible. The patient is asked to make a fist, and the technician feels the veins in order to select an appropriate one. When a vein is selected, the technician inserts a needle into the vein and releases the elastic band. The appropriate amount of blood is drawn and the needle is withdrawn from the vein. The patient's pulse and blood pressure may be monitored during the procedure.

For some tests requiring very small amounts of blood for analysis, the technician uses a finger stick. A lance, or small needle, makes a small cut in the surface of the fingertip, and a small amount of blood is collected in a narrow glass tube. The fingertip may be squeezed to get additional blood to surface.

The amount of blood drawn depends on the purpose of the phlebotomy. Blood donors usually contribute a unit of blood (500 mL) in a session. The volume of blood needed for laboratory analysis varies widely with the type of test being conducted. Therapeutic phlebotomy removes a larger amount of blood than donation and blood analysis require. Phlebotomy for treatment of hemochromatosis typically involves removing a unit of blood--or 250 mg of iron--once a week. Phlebotomy sessions are required until iron levels return to a consistently normal level, which may take several months to several years. Phlebotomy for polycythemia vera removes enough blood to keep the patient's hematocrit below 45%. The frequency and duration of sessions depends on the patient's individual needs.

Preparation

Patients having their blood drawn for analysis may be asked to discontinue medications or to avoid food (to fast) for a period of time before the blood test. Patients donating blood will be asked for a brief medical history, have their blood pressure taken, and have their hematocrit checked with a finger stick test prior to donation.

Aftercare

After blood is drawn and the needle is removed, pressure is placed on the puncture site with a cotton ball to stop bleeding, and a bandage is applied. It is not uncommon for a patient to feel dizzy or nauseated during or after phlebotomy. The patient may be encouraged to rest for a short period once the procedure is completed. Patients are also instructed to drink plenty of fluids and eat regularly over the next 24 hours to replace lost blood volume. Patients who experience swelling of the puncture site or continued bleeding after phlebotomy should get medical help at once.

Risks

Most patients will have a small bruise or mild soreness at the puncture site for several days. Therapeutic phlebotomy may cause thrombocytosis and chronic iron deficiency (anemia) in some patients. As with any invasive procedure, infection is also a risk. This risk can be minimized by the use of prepackaged sterilized equipment and careful attention to proper technique.

Normal results

Normal results include obtaining the needed amount of blood with the minimum of discomfort to the patient.

Key Terms

Finger stick
A technique for collecting a very small amount of blood from the fingertip area.
Hemochromatosis
A genetic disorder known as iron overload disease. Untreated hemochromatosis may cause osteoporosis, arthritis, cirrhosis, heart disease, or diabetes.
Thrombocytosis
A vascular condition characterized by high blood platelet counts.
Tourniquet
Any device that is used to compress a blood vessel to stop bleeding or as part of collecting a blood sample. Phlebotomists usually use an elastic band as a tourniquet.
Venesection
Another name for phlebotomy.

Further Reading

For Your Information

    Periodicals

  • Messinezy, Maria, and T. C. Pearson. "Polycythaemia, Primary (Essential) Thrombocythaemia and Myelofibrosis (ABC of Clinical Haematology)." British Medical Journal 314 (Feb 22, 1997): 587-90.
  • Wolfe, Yun Lee. "Case of the ceaseless fatigue." Prevention 49 (July 1997): 88-94.

Gale Encyclopedia of Medicine. Gale Research, 1999.

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