Diagnosis of alfa-thalassemia in an early stage of life as a replacement of the HPLC
Thalassemia is a genetic blood disorder that indirectly causes the body to have less hemoglobin than normal, which might cause severe anemia. There are two primary types of thalassemia which are alpha-thalassemia and beta-thalassemia. These diseases mainly occur in Mediterranean countries, Africa, the Middle East, Southeast Asia and India. They are also recently detected in Western Europa as a result of migration. Up to this date there are still no other treatments than bone marrow transplantation.
The severity of the condition depends on the form. Alpha-thalassemia has two forms; Hemoglobin H (HbH) disease and alfa thalassemia major. A child with HbH disease has mild anemia. The liver and spleen can be bigger than usual. A child with alfa thalassemia major has severe anemia. Most children with this condition die shortly after birth. What type of disease you can get depends on the mutations in the genes that code for α-Globin.
There are four genes (αα/αα) that code for α-Globin. A deletion or a point mutations in one or more genes causes alpha-thalassemia. How this is expressed in the phenotype depends on the number of affected α-Globin genes and the imbalance between α- and β-globin chains.
Goffin Molecular Technologies offers the α-Globin StripAssay® from ViennaLab. This test can identify 21 mutations, which cover over >90% of all alpha-globin mutations. With this test it is possible to analyze common α-globin single and double gene deletions, small deletions, point mutations and gene triplication. The mutations can be tested on two separate strips that contain all the mutations.
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