Co-inheritance of α-and β-thalassemia: challenges in prenatal diagnosis of thalassemia
Journal Title: Iranian Journal of Blood and Cancer - Year 2012, Vol 4, Issue 2
Abstract
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.
Authors and Affiliations
Zahra Kiani Moghaddam, Narges Bayat, Atefeh Valaei, Alireza Kordafshari, Behnaz Zarbakhsh, Sirous Zeinali, Morteza Karimipoor
Keywords
Related Articles
- EP ID EP369515
- DOI -
- Views 65
- Downloads 0
Editorial note
This article has no abstract
Synovial Sarcoma of the Head and Neck: A Case of Childhood Soft Tissue Sarcoma
Although rare, synovial sarcoma is the most common malignant non-rhabdomyosarcomatous soft tissue sarcoma in children and adolescents. Synovial sarcoma typically involves the soft tissues of the extremities, especially n...
Homogeneously Staining Regions or Double Minute Chromosomes in Leukemia
This article has no abstract.
Prevalence of Diabetes Mellitus in Patients with Transfusion Dependent β Thalassemia
Introduction: Thalassemia is common in Iran. Appropriate therapy for this disease includes a regular blood transfusion and chelation therapy. However, patients will inevitably confront with side effects, particularly iro...
The effect of on demand and prophylactic therapeutic methods on quality of life among hemophilic children
Background: Treating a chronic disease such as hemophilia is to improve the symptoms and quality of life (QOL) of the patients. This study aimed to study the quality of life among hemophilic children and compare the qual...