Co-inheritance of α-and β-thalassemia: challenges in prenatal diagnosis of thalassemia. Iranian Journal of Blood and Cancer 2012; 4 (2) :81-84
URL:
http://ijbc.ir/article-1-314-en.html
Abstract: (11694 Views)
Background: The double heterozygous state of α/β thalassemia may alter the hematological indices and modify the
phonotype. In addion, definite characterizaon of co-inheritance of α- and β-thalassemia heterozygous carriers
may change the process of genec counseling.
Materials and Methods: An Iranian couple with low hematological indices was analyzed for α-globin gene deleons
using mulplex gap PCR method and β-globin gene mutaons by ARMS-PCR method and DNA sequencing.
Results: The -20.5kb α-globin gene deleon was found in both individuals, and the IVSI-110(G>A) mutaon in β-
globin gene in male partner. The β -globin gene sequence was normal in female partner. Therefore, the couple was
informed about the risk of having fetuses with hemoglobin Bart’s hydrops fetalis.
Conclusion:The co-inheritance of α/β thalassemia should be considered in genec counseling of families screened
for β-thalassemia major prevenon.
:
Case report |
Subject:
Pediatric Hematology & Oncology Received: 2012/04/29 | Accepted: 2015/03/2 | Published: 2015/03/2