Paroxysmal Nocturnal Hemoglobinuria

Synonyms

• Marchiafava-Micheli Syndrome
• PNH

Disorder Subdivisions

• None

General Discussion

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired stem cell disorder. 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 pigment of blood. Individuals with hemoglobinuria may exhibit dark-colored or bloody urine. 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 or insufficiency. Bone marrow, the spongy center of the large bones of the body, produces hematopoietic stem cells, which grow and eventually develop into red blood cells (erythrocytes), white blood cells (leukocytes), and platelets. 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, and affected individuals usually do not exhibit all of the symptoms potentially associated with the disorder.

Resources

Aplastic Anemia & MDS International Foundation, Inc.
P.O. Box 310
Churchton, MD 20733
USA
Tel: 4108670242
Fax: 4108670240
Tel: 8007472820
Email: info@aamds.org
Internet: http://www.aamds.org

NIH/National Institute of Allergy and Infectious Diseases
6610 Rockledge Drive
MSC 6612
Bethesda, MD 20892-6612
Tel: (301)496-5717
Fax: (301)402-3573
TDD: (800)877-8339
Internet: http://www.niaid.nih.gov/

NIH/Hematology Branch, National Heart, Lung and Blood Institute (NHLBI)

Tel: (301)402-0764
Fax: (301)402-3088
Email: zamaniw@nhlbi.nih.gov
Internet: http://www.nhlbi.nih.gov/nhlbi/seekpat/hematol.htm

PNH Support Group

Internet: www.pnhdisease.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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: 3/19/2007
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