Delta-thalassemia
Delta-thalassemia | |
ICD-9 | 282.4 |
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MeSH | D055538 |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Delta-thalassemia is a form of thalassemia. It is associated with HBD.[1]
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.[2] This can be important in genetic counseling, because a child who is the product of parents each of whom has beta0 thalassemia trait has a one in four chance of having beta thalassemia major.
References
- ↑ Drakoulakou O, Papapanagiotou E, Loutradi-Anagnostou A, Papadakis M (1997). <344::AID-HUMU7>3.0.CO;2-5 "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]". Hum. Mutat. 9 (4): 344–7. doi:10.1002/(SICI)1098-1004(1997)9:4<344::AID-HUMU7>3.0.CO;2-5. PMID 9101295.
- ↑ Bouva MJ, Harteveld CL, van Delft P, Giordano PC (2006). "Known and new delta globin gene mutations and their diagnostic significance". Haematologica. 91 (1): 129–32. PMID 16434382. Unknown parameter
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