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Journal of Medical Sciences
  Year: 2009 | Volume: 9 | Issue: 3 | Page No.: 151-155
DOI: 10.3923/jms.2009.151.155
 
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Study of Possible Genetic Factors Determining the Clinical Picture of Thalassemia Intermedia

N. Kaddah, S. Rizk, A.M. Kaddah, K. Salama and H. Lotfy

Abstract:
The aim of this study was to evaluate some of the genetic factors involved in ameliorating the severity of β thalassemia among a group of Egyptian children with thalassemia intermedia.The study included 22 patients who were diagnosed on clinical basis as β thalassemia intermedia. Their age ranged between 3 and 21 years. They were screened for the most common seven genetic mutations of β-thalassemia evaluated in Egyptian studies: IVS1-6, IVS1-110, IVS2-1, IVS2-745, IVS1-1, -87 and codon 39, also screened for -158 Xmn polymorphism and co-inheritance of α-gene deletions. Present results showed that, the frequency of IVS1-6 was found to be 22.7% and of IVS1-110 was 18.2%, while IVS2-1, IVS2-745, IVS1-1, -87 and codon 39 were undetected. The -158 Xmn polymorphism was detected in 2 out of 22 cases (9%) and co-inheritance of α-thalassemia was 5 out of 22 cases (22.7%) mm. This study showed that, the ameliorating factors in β-thalassemia intermedia may include the inheritance of mild β thalassemia allele as IVS1-6, the presence of -158 Xmn polymorphisms or co-inheritance of α-gene deletions. Identification of genetic pattern in thalassemia intermedia is essential for genetic counseling and prenatal diagnosis and also for the proper management of those patients.
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How to cite this article:

N. Kaddah, S. Rizk, A.M. Kaddah, K. Salama and H. Lotfy, 2009. Study of Possible Genetic Factors Determining the Clinical Picture of Thalassemia Intermedia. Journal of Medical Sciences, 9: 151-155.

DOI: 10.3923/jms.2009.151.155

URL: https://scialert.net/abstract/?doi=jms.2009.151.155

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