Delta-thalassemia: Difference between revisions

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{{Infobox Disease
#Redirect[[Thalassemia pathophysiology]]
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==Overview==
 
'''Delta-thalassemia''' is a form of [[thalassemia]]. It is associated with [[HBD]].<ref name="pmid9101295">{{cite journal |author=Drakoulakou O, Papapanagiotou E, Loutradi-Anagnostou A, Papadakis M |title=delta-Thalassemic phenotype due to two "novel" delta-globin gene mutations: CD11[GTC-->GGC (A8)-HbA2-Pylos] and CD 85[TTT-->TCT(F1)-HbA2-Etolia] |journal=Hum. Mutat. |volume=9 |issue=4 |pages=344–7 |year=1997 |pmid=9101295 |doi=10.1002/(SICI)1098-1004(1997)9:4<344::AID-HUMU7>3.0.CO;2-5 |url=http://dx.doi.org/10.1002/(SICI)1098-1004(1997)9:4<344::AID-HUMU7>3.0.CO;2-5}}</ref>
 
==Relationship to beta thalassemia==
The importance of recognizing the existence of delta thalassemia is seen best in cases where it may mask the diagnosis of [[beta thalassemia]] trait.  In beta thalassemia, there is an increase in hemoglobin A2, typically in the range of 4-6% (normal is 2-3%).  However, the co-existence of a delta thalassemia mutation will decrease the value of the hemoglobin A2 into the normal range, thereby obscuring the diagnosis of beta thalassemia trait.<ref name="pmid16434382">{{cite journal |author=Bouva MJ, Harteveld CL, van Delft P, Giordano PC |title=Known and new delta globin gene mutations and their diagnostic significance |journal=Haematologica |volume=91 |issue=1 |pages=129–32 |year=2006 |month=January |pmid=16434382 |doi= |url=http://www.haematologica.org/cgi/pmidlookup?view=long&pmid=16434382}}</ref>  This can be important in genetic counseling, because a child who is the product of parents each of whom has beta<sup>0</sup> thalassemia trait has a one in four chance of having beta thalassemia major.
 
==References==
{{reflist|2}}
 
{{Myeloid hematologic disease}}
 
 
[[Category:Genetic disorders]]
[[Category:Blood disorders]]
 
 
 
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Latest revision as of 16:52, 21 September 2012