Essential Thrombocythemia

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Essential Thrombocythemia is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Summary

Essential thrombocythemia, also known as ET, is a rare disease. The most important first fact about ET: on average, people with ET have a normal life expectancy.

Patients with ET have increased numbers of platelets. Platelets are the smallest of the three types of blood cells and are needed for successful blood clotting after an injury. The two other types of blood cells are red blood cells, which carry oxygen to all tissues in the body, and white blood cells, which help to fight infections. Red blood cell numbers (often measured as a percentage of whole blood, called a hematocrit) are generally normal in ET, while white blood cell numbers are normal or slightly elevated in ET. Importantly, most people with an elevated platelet count do not have ET. Common alternative causes of an elevated platelet count are iron deficiency, infection or generalized inflammation; less common causes are blood disorders such as ET or other related blood diseases (also see below).

Introduction

In the 1950's, a pioneering hematologist, William Dameshek, placed ET within a family of blood diseases called myeloproliferative disorders. These were unified by their propensity to lead to abnormal increases in various blood cells, perhaps, in Dr. Dameshek's words, "due to a hitherto undiscovered stimulus". At the time, it was unclear if these "proliferations" represented a natural response to some external cause, or were the result of an internal defect.

Over time, it became obvious that the myeloproliferative disorders are caused by genetic accidents (an internal defect) in very early blood cells (stem cells), which are then passed along to all of the progeny of that cell, even as they mature into platelets, red cells, or white blood cells (see below). In acknowledgement of this new understanding, myeloproliferative disorders have been renamed myeloproliferative neoplasms (MPN). For this reason, ET is best thought of as a chronic type of leukemia - albeit one with an overall excellent prognosis and often requiring minimal or no treatment.

Supporting Organizations

American Cancer Society, Inc.

250 Williams NW St
Ste 6000
Atlanta, GA 30303
USA
Tel: (404)320-3333
Tel: (800)227-2345
Website: http://www.cancer.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

Leukemia & Lymphoma Society

3 International Drive
Suite 200
Rye Brook, NY 10573
Tel: (914)949-5213
Fax: (914)949-6691
Tel: (800)955-4572
Email: infocenter@LLS.org
Website: http://www.LLS.org

MPN Education Foundation

P O Box 4758
Scottsdale, AZ 85261
Tel: (480)443-1975
Fax: (480)443-1154
Email: r.niblack@cox.net or ian.sweet@homemail.com.au
Website: http://www.mpninfo.org

MPN Research Foundation

180 N. Michigan Avenue, Suite 1870
Chicago, IL 60601
Tel: (312)683-7249
Fax: (312)332-0840
Email: RNunez@mpnresearchfoundation.org
Website: http://www.mpnresearchfoundation.org

NIH/National Heart, Lung and Blood Institute

P.O. Box 30105
Bethesda, MD 20892-0105
Tel: (301)592-8573
Fax: (301)251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov
Website: http://www.nhlbi.nih.gov/

NIH/National Heart, Lung and Blood Institute ~ Hematology Branch

10 Center Dr, Building 10-CRC
3-5140, MSC-1202
Bethesda, MD 20892-1202
Tel: (301)496-5093
Fax: (301)496-8396
Tel: (800)644-2337
Email: YoungNS@mail.nih.gov
Website: http://dir.nhlbi.nih.gov/labs/hb/index.asp

Platelet Disorder Support Association

8751 Brecksville Road
Suite 150
Cleveland, OH 44141
USA
Tel: (440)746-9003
Fax: (844)270-1277
Tel: (877)528-3538
Email: pdsa@pdsa.org
Website: http://www.pdsa.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  5/15/2014
Copyright  2014 National Organization for Rare Disorders, Inc.