Talasemia beta
Analysis ID 68
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Talasemia beta
OMIM #603902
Clinical information Talasemia beta is a hereditary autosomal recessive disease caused by aberrant beta-globin synthesis. The symptoms result from abnormal hemoglobin function. Autosomal recessive mutations lead to severe anemia, jaundice, spleen enlargement, dyspnea, and in some cases to mental retardation. Heterozygous mutations may result in a relatively milder phenotype. The disorder is frequent in the Mediterranean area.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes HBB; hemoglobin-beta
Analysis description Sequencing analysis of the HBB gene
Analysis indication Clinical symptoms of beta-talasemia
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics