Beta Thalassemia
Beta Thalassemia is an autosomal recessive disorder caused by the absence or reduction of beta-globin chain synthesis, resulting in microcytic hypochromic anemia, an abnormal peripheral blood smear with nucleated red blood cells, and reduced amounts of hemoglobin A. For clinical purposes, Beta Thalassemia is divided into thalassemia major, thalassemia intermedia, and thalassemia minor. Thalassemia major is characterized by ineffective erythropoiesis and extramedullary hematopoiesis and is transfusion dependent. Thalassemia major manifests within the first year of life. Individuals with thalassemia intermedia present with symptoms later and have milder anemia that only rarely requires transfusion. Thalassemia minor is asymptomatic.
The microarray-based Beta Thalassemia test was developed for the detection of 69 common mutations in beta-globin gene.
Genetic testing helps to confirm the diagnosis and provides supportive information for genetic counseling. The test is available both with genotyping service (includes genotyping, electronical copy of the results report) and diagnostic package service (includes DNA extraction, genotyping, additional validation of the APEX-based analysis findings by dideoxy sequencing, interpretation, hard copy of the results report).
View ordering information
For further information:
ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia
Shammas C, Papasavva T, Felekis X, Christophorou C, Roomere H, Synodinos JT, Kanavakis E, El-Khateeb M, Hamamy H, Mahmoud T, Shboul M, Beshlawy AE, Filon D, Hussein IR, Galanello R, Romeo G, Kleanthous M.
Clin Chem Lab Med. 2010 Dec;48(12):1713-8.
Reliable Detection of Beta Thalasseemia and G6PD Mutations by a DNA Microarray
Gemignani F, Perra C, Landi ST, Canzian F, Kurg A, Tõnisson N, Galanello R, Cao A, Metspalu A, Romeo G.
Clinical Chemistry 2002, Vol. 48, No.11, pp. 2051-2054
Arrayed Primer Extension for the Noninvasive Prenatal Diagnosis of Beta Thalassemia Based on Detection of Single Nucleotide Polymorphisms
Papasavva T, Kalikas , Kyrri A, and Kleanthousa M.Annals of the New York Academy of Sciences 2008, vol. 1137, pp. 302-308
|
