Congenital dyserythropoietic anemia type II

Congenital dyserythropoietic anemia type II

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

References

  1. ^ 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. 
  2. ^ a b http://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia

Further reading

External links


Wikimedia Foundation. 2010.

Игры ⚽ Поможем сделать НИР

Look at other dictionaries:

  • Congenital dyserythropoietic anemia type I — (CDA I) is a disorder of blood cell production, particularly of the production of erythroblasts, which are the precursors of the red blood cells (RBCs).[1] Congenital dyserythropoietic anemia type I Classification and external resources ICD 10… …   Wikipedia

  • Congenital dyserythropoietic anemia type iv — (CDA IV) has been described with typical morphologic features of CDA II but a negative acidified serum test.[1] Congenital dyserythropoietic anemia type iv Classification and external resources ICD 10 D64.4 ICD 9 …   Wikipedia

  • Congenital dyserythropoietic anemia type III — (CDA III) is a rare autosomal dominant disorder characterized by macrocytic anemia, bone marrow erythroid hyperplasia and giant multlnucleate erythroblasts.[1] Congenital dyserythropoietic anemia type III Classification and external resources ICD …   Wikipedia

  • Congenital dyserythropoietic anemia — Classification and external resources ICD 10 D64.4 ICD 9 285.8 Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. CDA is one of many types of …   Wikipedia

  • congenital dyserythropoietic anemia — any of several rare hereditary anemias, mostly types of macrocytic anemia, characterized by nuclear anomalies of the erythrocytes, such as multinuclearity, karyorrhexis, or macrocytosis. The most common type (called also HEMPAS) is an autosomal… …   Medical dictionary

  • Anemia — The condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin in the blood. The oxygen carrying capacity of the blood is, therefore, decreased. Persons with anemia may feel tired and fatigue …   Medical dictionary

  • Anemia — For other uses, see Anemia (disambiguation). Anemia Classification and external resources ICD 10 D50 D64 ICD 9 …   Wikipedia

  • UBR1 — Ubiquitin protein ligase E3 component n recognin 1, also known as UBR1, is a human gene.cite web | title = Entrez Gene: UBR1 ubiquitin protein ligase E3 component n recognin 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene… …   Wikipedia

  • CCNDBP1 — Cyclin D type binding protein 1, also known as CCNDBP1, is a human gene. PBB Summary section title = summary text = This gene was identified by the interaction of its gene product with Grap2, a leukocyte specific adaptor protein important for… …   Wikipedia

  • ZFP106 — Zinc finger protein 106 homolog (mouse), also known as ZFP106, is a human gene.cite web | title = Entrez Gene: ZFP106 zinc finger protein 106 homolog (mouse)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView… …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”