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
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Journal ArticleDOI
Observation of a rare hemoglobin variant [Hb Lulu island, beta107(G9)Gly-->Asp, GGC-->GAC] co-inherited with a beta+-thalassemia mutation [IVS-I-110 (G-->A)] or in the heterozygous state in a Greek-Albanian family.
Ioannis Papassotiriou,Alexandra Stamoulakatou,Henri Wajcman,Jean Kister,Gerasimos Dimisianos,Christina Lazaropoulou,Ino Kanavaki,Efstathios Vavourakis,Antonios Kattamis,Emmanuel Kanavakis,Joanne Traeger-Synodinos +10 more
TL;DR: Clinical, hematological, biochemical, functional and molecular studies carried out on two first cousins from a Greek-Albanian family who have clinical and hematology findings consistent with the diagnosis of thalassemia intermedia determined that they had co‐inherited a common Mediterranean β-thalassemia (thal) mutation.
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MRONJ of the Mandible—From Decortication to a Complex Jaw Reconstruction Using a CAD/CAM-Guided Bilateral Scapula Flap
R. Kasper,Mario Scheurer,S. Pietzka,Andreas Sakkas,Alexander Schramm,Frank Wilde,Marcel Ebeling +6 more
TL;DR: In this paper , the authors present the long-term history of patients with MRONJ of the mandible, whose disease ultimately resulted in partial or total mandibular resection and subsequent multisegmental reconstruction using a microvascular anastomosed bone flap.
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Bilateral maculopathy in a thalassemia patient on iron chelation therapy: a case report
TL;DR: A 10-year-old Malay girl with underlying HbE/beta-thalassemia, on regular blood transfusion and deferoxamine iron chelation therapy, presented with two-month history of bilateral blurring of vision, finding her vision was 6/36 both eyes.
Journal ArticleDOI
Identification of patients with defects in the globin genes by analysing blood parameters and genetic study: Report of five cases
Domenico Dell’Edera,Michele Benedetto,Manuela Leo,Carmela Santacesaria,Arianna Allegretti,Maria Giovanna Lupo,Eleonora Mazzone,Annunziata Anna Epifania +7 more
TL;DR: In this article, the authors have analyzed five cases with borderline hematological parameters and found that the biochemical diagnosis alone, in some cases, is not sufficiently reliable to highlight the carriers of thalassemia trait.
Book ChapterDOI
Novel Therapy Approaches in β-Thalassemia Syndromes — A Role of Genetic Modifiers
TL;DR: The β-thalassemia syndromes are heterogeneous autosomal recessive hereditary disorders, caused by alterations in the HBB gene and characterized by absent or reduced β-globin chain synthesis, and therapy and development of induced pluripotent stem cells (iPSCs) have been explored.
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