Digital Public Defence: Runa Marie Grimholt
MSc Runa Marie Grimholt at Institute of Clinical Medicine will be defending the thesis “Hemoglobinopathies gone astray-Identification and characterization of rare deletions and sequence variants in the globin genes found in Norway” for the degree of PhD (Philosophiae Doctor).
The public defence will be held as a video conference over Zoom.
The defence will follow regular procedure as far as possible, hence it will be open to the public and the audience can ask ex auditorio questions when invited to do so.
Due to copyright reasons, an electronic copy of the thesis must be ordered from the faculty. In order for the faculty to have time to process the order, it must be received by the faculty no later than 2 days prior to the public defence. Orders received later than 2 days before the defence will not be processed. Inquiries regarding the thesis after the public defence must be addressed to the candidate.
Digital Trial Lecture – time and place
- First opponent: Associate Professor Andreas Birkedal Glenthøj, University of Copenhagen, Denmark
- Second opponent: Senior Engineer and Researcher Helle Høyer, Telemark Hospital Trust
- Third member and chair of the evaluation committee: Professor and Senior Consultant Per Ole Iversen, University of Oslo
Chair of the Defence
Professor Marit Inngjerdingen, University of Oslo
Associate Professor Olav Klingenberg, University of Oslo
Hemoglobinopathies are a group of inherited hemoglobin (Hb) disorders including thalassemia (reduced or absent synthesis of globin chains) and Hb variants (structural defect in the globin chain). In general, these conditions follow an autosomal recessive pattern of inheritance, and the clinical presentation is ranging from asymptomatic to transfusion dependent anemia or intrauterine death. Hemoglobinopathies are most common in tropical and subtropical areas of the world. Due to migration, we now find hemoglobinopathies all over the world, also in Norway. Laboratory diagnostics is important to make accurate diagnoses as basis for providing good health care.
The main objectives of this project were to gain knowledge and improve the diagnostics of hemoglobinopathies by developing new technological applications and characterizing novel and rare deletions and sequence variants in the globin genes found in patients in Norway.
The establishment of a new copy number variation analysis (HBA-CNV) based on qPCR to detect deletions covering the two α-globin genes and their regulatory region, HS-40, has made it easier to diagnose more patients by detecting rare and novel deletions causing α-thalassemia.
Three novel hemoglobin variants, Hb Oslo, Hb Ullevaal and Hb Aalesund, were identified and characterized during this project. Hb Ullevaal and Hb Aalesund were discovered during Hb A1c measurement as they interfered with chromatographic methods, causing falsely low and high Hb A1c results, respectively. Hb Oslo, a novel unstable hemoglobin variant was found in a patient of Norwegian origin with an unexplained hemolytic anemia.
The findings of α-thalassemia, including three novel forms, in 20 patients of Norwegian origin, together with Hb Oslo and Hb Aalesund, illustrate that even though hemoglobinopathies are rare in people of Scandinavian origin, the possibility of a hemoglobinopathy should not be ignored in cases with unexplained hemolysis or microcytosis.
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