Beta- Thalassemia study: Expansion of IB Biotech services.

IB BIOTECH, the genetic laboratory of Instituto Bernabeu, has recently expanded its portfolio of genetic counselling with this new study.

Thalassemias include a group of disorders caused by defects in the synthesis of one or more globin chains (a component of hemoglobin in red blood cells) that cause hemolytic anemia that can range from mild to lethal. If it affects the synthesis of the alpha chain it is called alpha-thalassemia, and if it affects the beta chain it is beta-thalassemia. It is an autosomal recessive hereditary disease and its frequency is very high (5% of the world’s population are carriers). Its prevalence is higher in Mediterranean countries.

From a molecular standpoint, thalassemias are caused by mutations in globin genes. In alpha thalassemia, such mutations involve deletions of part or all of a gene, and others, as in beta thalassemia, a substitution of one nucleotide in the sequence of the gene.

Since it is a recessive disease, it is important that carrier are aware of their state so that they can prevent the onset of the disease in offspring. IB BIOTECH offers the following to make things easier: Possibility of ordering and carrying out the sampling from home, internet gateway to check the status of the result or sample makes receiving the results even faster.