Genetic modifiers of beta-thalassemia.
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TLDR
The clinical and hematologic diversity encountered in beta thalassemia is reviewed with an overview of the modifier genes that moderate their disease expression.Abstract:
As the defective genes for more and more genetic disorders become unravelled, it is clear that patients with apparently identical genotypes can have many different clinical conditions even in simple monogenic disorders. Beta thalassemia occurs when there is a deficiency in the synthesis of beta globin chains. The clinical manifestations of beta thalassemia are extremely diverse, spanning a broad spectrum from severe anemia and transfusion-dependency to the asymptomatic state of thalassemia trait. The remarkable phenotypic diversity of the beta thalassemias is prototypical of how a wide spectrum of disease severity can be generated in single gene disorders. The most reliable and predictive factor of disease phenotype is the nature of the mutation at the beta globin locus itself. However, relating phenotype to genotype is complicated by the complex interaction of the environment and other genetic factors at the secondary and tertiary levels, some implicated from family studies, and others, as yet unidentified. This article reviews the clinical and hematologic diversity encountered in beta thalassemia with an overview of the modifier genes that moderate their disease expression.read more
Citations
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Journal ArticleDOI
Understanding Beta-Thalassemia with Focus on the Indian Subcontinent and the Middle East
TL;DR: It is suggested that efforts to more completely characterize the HBB mutation distribution in high-risk areas, such as the Indian Subcontinent and the Middle East, may lead to improved diagnosis with earlier and more effective intervention strategies.
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Seroprevalence of Hepatitis C, Hepatitis B, Cytomegalovirus, and Human Immunodeficiency Viruses in Multitransfused Thalassemic Children in Upper Egypt
TL;DR: The frequency of TTIs, especially HCV, is considerably high among Egyptian children with thalassemia major, and it is therefore important to implement measures to improve blood transfusion screening, such as polymerase chain reaction, in order to reduce TTIs from blood donor units.
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Multiplex ligation‐dependent probe amplification screening of isolated increased HbF levels revealed three cases of novel rearrangements/deletions in the β‐globin gene cluster
TL;DR: The IVS2 of HBG2 and HBG1 might play a role in HbF regulation, and combinations of specific polymorphisms could influence the reactivation of these genes in adults.
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Spectrum of β-thalassemia mutations in the eastern province of Saudi Arabia
Ali Ibrahim Al-Sultan,Supriya Phanasgaonkar,Ahmed Suliman,Muneer Al-Baqushi,Zaki Nasrullah,Amein K. Al-Ali +5 more
TL;DR: A more comprehensive overview of the genetic heterogeneity of the β-thal mutations in the Eastern Province of Saudi Arabia is presented, which will contribute to the establishment of an effective prevention program, including premarital screening.
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