- Congenital dyserythropoietic anemia type II
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Congenital dyserythropoietic anemia type II (CDA II), or HEMPAS is a rare genetic anaemia in humans characterized by hereditary erythroblastic multinuclearity with positive acidified serum lysis test.[1]
Congenital dyserythropoietic anemia type II Classification and external resources ICD-10 D64.4 ICD-9 285.8 Contents
Genetics
CDA type II is caused by mutations in the SEC23B gene. This gene provides instructions for making a protein that is involved in the transport of other proteins within cells. During the development of red blood cells, this protein may help ensure that proteins are transported to the areas where they are needed. Researchers are working to determine how mutations in the SEC23B gene lead to the signs and symptoms of CDA type II.[2]
Analyses of CDA II erythrocyte membranes showed that the band 3 glycoprotein is underglycosylated. An aberrant glycosylation pattern is seen in the polylactosamine carbohydrates which are normally attached to the band 3 and band 4.5 glycoproteins. The polylactosamines are, however, accumulated in the form of glycolipids. Therefore a genetic factor in CDA II appears to block the glycosylation of protein acceptors and shift these carbohydrates to the lipid acceptors. Structural analysis of CDA II band 3 carbohydrates identified truncated hybrid-type oligosaccharides and suggests that the Golgi glycosylation enzyme(s), alpha-mannosidase II or N-acetylglycosaminyltransferase II is defective in CDA II.[1]
Type OMIM Gene Locus CDAN2 224100 SEC23B 20p11.2 Description
The anemia associated with CDA type II can range from mild to severe, and most affected individuals have jaundice, hepatosplenomegaly, and the formation of hard deposits in the gallbladder called gallstones. This form of the disorder is usually diagnosed in adolescence or early adulthood. An abnormal buildup of iron typically occurs after age 20, leading to complications including heart disease, diabetes, and cirrhosis.[2]
Treatment
Treatment consists of frequent blood transfusions and chelation therapy. Potential cures include bone marrow transplantation and gene therapy.
See also
- Congenital dyserythropoietic anemia
- Thalassemia
- Hemoglobinopathy
- List of hematologic conditions
References
- ^ a b Fukuda, Michiko N. (1993). "Congenital dyserythropoietic anaemia type II (HEMPAS) and its molecular basis". Baillière's Clinical Haematology 6 (2): 493–511. doi:10.1016/S0950-3536(05)80156-8. PMID 8043936.
- ^ a b http://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia
Further reading
- McCann, Shaun R; Firth, R; Murray, Nuala; Temperley, I J (1980). "Congenital dyserythropoietic anaemia type II (HEMPAS): A family study". Journal of Clinical Pathology 33 (12): 1197–201. doi:10.1136/jcp.33.12.1197. PMC 1146375. PMID 7451666. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1146375.
- Heimpel, Hermann; Anselstetter, Volker; Chrobak, Ladislav; Denecke, Jonas; Einsiedler, Beate; Gallmeier, Kerstin; Griesshammer, Antje; Marquardt, Thorsten et al. (2003). "Congenital dyserythropoietic anemia type II: Epidemiology, clinical appearance, and prognosis based on long-term observation". Blood 102 (13): 4576–81. doi:10.1182/blood-2003-02-0613. PMID 12933587. http://cdg.uni-muenster.de/Artikel/Heimpel_Blood_03.pdf.
External links
- Congenital dyserythropoietic anemia at the US National Institutes of Health Home Genetic Reference
Categories:- Genetic disorders with no OMIM
- Anemias
- Genetic disorder stubs
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