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Paroxysmal Nocturnal Hemoglobinuria

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Paroxysmal Nocturnal Hemoglobinuria is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • PNH
  • Marchiafava-Micheli syndrome

Disorder Subdivisions

  • None

General Discussion

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disorder in which red blood cells break apart prematurely. It is an acquired hematopoietic stem cell disorder. Hematopoietic stem cells are created in the bone marrow, the spongy center of the long bones of the body. These cells grow and eventually develop into red blood cells, white blood cells and platelets. Some hematopoietic stem cells in individuals with PNH are defective and consequently develop into defective blood cells. These defective blood cells, especially red blood cells, are extremely susceptible to premature destruction by a person's own immune system.

The classic finding is the premature destruction of red blood cells (hemolysis), resulting in repeated episodes of hemoglobin in the urine (hemoglobinuria). Hemoglobin is the red, iron-rich, oxygen-containing pigment of the blood. Individuals with hemoglobinuria may exhibit dark-colored or bloody urine. This finding is most prominent in the morning, after the urine has concentrated overnight during sleep. However, hemolysis in individuals with PNH is a constant process, it does not occur only at night. Blood in the urine may not always be visible to the eye.

In addition to hemolysis, individuals with PNH are also susceptible to developing repeated, potentially life-threatening blood clots (thromboses). Affected individuals also have some degree of underlying bone marrow dysfunction. Severe bone marrow dysfunction potentially results in low levels of red and white blood cells and platelets (pancytopenia). The specific symptoms of PNH vary greatly from one person to another and affected individuals usually do not exhibit all of the symptoms potentially associated with the disorder.

Resources

Aplastic Anemia & MDS International Foundation, Inc.
100 Park Avenue, Suite 108
Rockville, MD 20850
USA
Tel: (301)279-7202
Fax: (301)279-7205
Tel: (800)747-2820
Email: help@aamds.org
Internet: http://www.aamds.org

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
Internet: http://dir.nhlbi.nih.gov/labs/hb/index.asp?

PNH Support Group
http://www.pnhdisease.org
Internet: http://www.pnhdisease.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
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

PNH Research and Support Foundation
PO Box 10983
Rockville, MD 20849
Tel: (888)582-9993
Fax: (888)582-9993
Tel: (888)582-9993
Email: info@pnhfoundation.org
Internet: http://www.pnhfoundation.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  1/13/2011
Copyright  1989, 1994, 1996, 1997, 2003, 2004, 2005, 2007, 2011 National Organization for Rare Disorders, Inc.

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