Haptoglobin genotyping of Vietnamese: Global distribution of HPdel, complete deletion allele of the HP gene

 http://repository.vnu.edu.vn/handle/VNU_123/34040

Haptoglobin (abbreviated as Hp) is the protein that in humans is encoded by the HP gene. In blood plasma, haptoglobin binds free hemoglobin (Hb) released from erythrocytes with high affinity and thereby inhibits its oxidative activity. The haptoglobin-hemoglobin complex will then be removed by the reticuloendothelial system (mostly the spleen).

In clinical settings, the haptoglobulin assay is used to screen for and monitor intravascular hemolytic anemia. In intravascular hemolysis, free hemoglobin will be released into circulation and hence haptoglobin will bind the hemoglobin. This causes a decline in haptoglobin levels. Conversely, in extravascular hemolysis the reticuloendothelial system, especially splenic monocytes, phagocytose the erythrocytes and hemoglobin is relatively not released into circulation; however, excess hemolysis can release some hemoglobin causing haptoglobin levels to be decreased. Therefore, haptoglobin is not a reliable way to differentiate between intravascular and extravascular hemolysis.

The haptoglobin (HP) gene deletion allele (HPdel) is responsible for anhaptoglobinemia and a genetic risk factor for anaphylaxis reaction after transfusion due to production of the anti-HP antibody. The distribution of this allele has been explored by several groups including ours. Here, we studied the frequency of HPdel in addition to the distribution of common HP genotypes in 293 Vietnamese. The HPdel was encountered with the frequency of 0.020. The present result suggested that this deletion allele is restricted to East and Southeast Asians. Thus, this allele seems to be a potential ancestry informative marker for these populations

Title: 

	Haptoglobin genotyping of Vietnamese: Global distribution of HPdel, complete deletion allele of the HP gene
Authors:	Soejima, Mikiko Agusa, Tetsuro Iwata, Hisato Fujihara, Junko Kunito, Takashi Takeshita, Haruo Vi, Thi Mai Lan Tu, Binh Minh Takahashi, Shin Pham, Thi Kim Trang Pham, Hung Viet Tanabe, Shinsuke Koda, Yoshiro
Keywords:	Geographic distribution Blood Transfusion Ancestry informative marke Anaphylaxis Gene deletion genetic risk
Issue Date:	2015
Publisher:	Elsevier
Citation:	Scopus
Abstract:	The haptoglobin (HP) gene deletion allele (HPdel) is responsible for anhaptoglobinemia and a genetic risk factor for anaphylaxis reaction after transfusion due to production of the anti-HP antibody. The distribution of this allele has been explored by several groups including ours. Here, we studied the frequency of HPdel in addition to the distribution of common HP genotypes in 293 Vietnamese. The HPdel was encountered with the frequency of 0.020. The present result suggested that this deletion allele is restricted to East and Southeast Asians. Thus, this allele seems to be a potential ancestry informative marker for these populations
Description:	Legal Medicine, Volume 17, Issue 1, 1 January 2015, Pages 14-16
URI:	http://www.sciencedirect.com/science/article/pii/S134462231400131X http://repository.vnu.edu.vn/handle/VNU_123/34040
ISSN:	13446223
Appears in Collections:	Bài báo của ĐHQGHN trong Scopus