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Anemia, Hereditary Nonspherocytic Hemolytic
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Copyright 1986, 1987, 1990, 1995, 1996, 2006, 2007
Synonyms of Anemia, Hereditary Nonspherocytic Hemolytic
- Congenital Nonspherocytic Hemolytic Anemia
- HNHA
- NSA
- NSHA
Disorder Subdivisions
General Discussion
Hereditary nonspherocytic hemolytic anemia is a term used to describe a group of rare, genetically transmitted blood disorders characterized by the premature destruction of red blood cells (erythrocytes or RBCs). If the red blood cells cannot be replaced faster than they destroy themselves, anemia is the result.
In these disorders, the outside membrane of the cell is weakened, causing it to have an irregular, non-spherical shape and to burst (hemolyze) easily. These disorders are caused by, among other things, defects in the chemical processes involved in the breakdown of sugar molecules (glycolysis). Red blood cells depend on this process for energy and if an enzyme is defective in any one of the stages, the red blood cell cannot function properly and hemolysis, or the breakdown of the membrane that holds the cell together, takes place. The more common of the enzyme deficiencies that lead to HNSHA involve glucose-6-phosphate dehydrogenase (G6PD) deficiency, pyruvate kinase deficiency and hexokinase deficiency. There may be as many as 16 red blood cell enzyme abnormalities that may cause hereditary nonspherocytic hemolytic anemia. In addition, HNSHA may arise as the result of immune disorders, toxic chemicals and drugs, antiviral agents (eg, ribavirin), physical damage, and infections.
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Organizations related to Anemia, Hereditary Nonspherocytic Hemolytic
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/National Heart, Lung and Blood Institute
31 Center Drive MSC 2480
Building 31A Rm 4A16
Bethesda MD 20892-2480
Phone #: 301-592-8573
800 #: --
e-mail: nhlbiinfo@rover.nhlbi.nih.gov
Home page: http://www.nhlbi.nih.gov/
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