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ß-globin

Description

The assay covers 22 of the most frequent ß-globin mutations

87 [C>G]
– 30 [T>A]
codon 5 [-CT]
hemoglobin C
hemoglobin S
codon 6 [-A]
codon 8 [-AA]
codon 8/9 [+G]
codon 22 [7bp del]
codon 30 [G>C]
IVS 1.1 [G>A]

IVS 1.2 [T>A]
IVS 1.5 [G>C]
IVS 1.6 [T>C]
IVS 1.110 [G>A]
IVS 1.116 [T>G]
IVS 1- 25 [25bp del]
codon 36/37 [-T]
codon 39 [C>T]
codon 44 [-C]
IVS 2.1 [G>A]
IVS 2.745 [C>G]

Intended Use

Over the past years more than 150 molecular defects in the human b-globin gene have been characterized. The gene maps to human chromosome 11 and consists of three exons separated by two introns (IVS-1, IVS-2). Altered b-globin sequences either cause structural abnormalities, such as hemoglobin S (sickle cell anemia) or hemoglobin C, or may lead to synthesis disfunctions (b-thalassemias). Two types of b-thalassemias are distinguished, depending on whether b-globin synthesis is reduced (ß+) or completely abolished (ß∞). The resulting disorders are a major public health problem, in particular among Mediterraneans, Asians, Africans and Indians. Since for the large majority of affected individuals there is only supportive management but no definitive cure, emphasis is given to prevention programs based on heterozygous carrier screening and prenatal diagnosis. The fact that a limited number of ß-globin alleles are prevalent in each at-risk population, in combination with significant simplification and automation of test procedures, opens the possibility to establish population screening programs on a large scale.



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Copyright © 2009 - 2019 İnvitrotek A.Ş. All Right Reserved by Invitrotek
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