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ß-globin IME

Description

22 mutations covering >90% of b-globin defects found in Mediterranean countries

cap+1 A>C
codon 5 -CT
codon 6 A>T (HbS) –
codon 8 -AA
codon 8/9 +G
codon 15 TGG>TAG β°
codon 16 -C β°
Codon 22 7bp del
codon 30 G>C
IVS 1.1 G>A
IVS 1.1 G>T

IVS 1.5 G>C
IVS 1.6 T>C
IVS 1.110 G>A
IVS 1-25 25bp del
codon 36/37 -T
codon 39 C>T
codon 41/42 -TTCT
Codon 44 -C
IVS 2.1 G>A
IVS 2.745 C>G
619bp del

Intended Use

In healthy adults 97-98% of total hemoglobin (Hb) is HbA, consisting of two a-globin and two b-globin polypeptides (a2b2). The b-globin chains are encoded by three exons separated by two introns (IVS-1, IVS-2) on chromosome 11. A considerable number (>200) of defects in the b-globin gene has been identified, many of which cause structural abnormalities, such as Hb S (sickle cell hemoglobin), Hb C or Hb E, or lead to impaired b-globin synthesis, known as b-thalassemia (b-thal). Two types of b-thal mutations are distinguished, depending on whether they lead to a reduction (b+) or an absence (b0) of b-globin synthesis. The clinical manifestations of b-thal show a tremendous diversity, which correlates with the underlying genetic defects. The most severe and transfusion-dependent state (b-thal major) is caused by the inheritance of two b0 alleles. Individuals, who have inherited a single b-thal allele (b0 or b+), have b-thal minor, which is often a clinically asymptomatic state. The diverse phenotypes ranging between b-thal major and b-thal minor constitute b-thal intermedia, which results from the inheritance of either b+/b+ or b+/b0. All these various disorders (hemoglobinopathies) are a major public health problem, particularly in Mediterranean countries, the Middle East, India, Asia and parts of Africa. For the large majority of affected individuals there is only supportive management but no ultimate cure. Health authorities therefore focus on prevention programs based on heterozygous carrier screening and prenatal diagnosis. Since only a few b-globin alleles are prevalent in each at-risk population, large-scale screening programs are feasible, but require simple and automated test procedures.



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