[Sickle cell disease – clinical manifestations and diagnostics].

Sickle cell disease is a group of diseases presenting with a set of characteristic acute and chronic manifestations. Sickle cell disease has traditionally been uncommon in the Northern European population; however, due to demographic changes, it is increasingly also something that Norwegian clinicians should be cognisant of. In this clinical review article we wish to present a brief introduction to sickle cell disease, with an emphasis on its aetiology, pathophysiology, clinical manifestation and how the diagnosis is established based on laboratory testing.

Additional value of red blood cell parameters in predicting uncommon α-thalassemia; experience from 10 years of α-globin gene sequencing and copy number variation analysis.

Introduction: The diagnosis of rare forms of α-thalassemia requires laborious genetic analyses. Accurate sample selection for such evaluation is therefore essential. The main objectives of this study were to investigate the predictive power of red blood cell parameters to detect rare forms of α-thalassemia (substudy 1), and to explore the frequency of rare versus common forms of α-thalassemia in our sample population (substudy 2).

Hemoglobinopathy gone astray-three novel forms of α-thalassemia in Norwegian patients characterized by quantitative real-time PCR and DNA sequencing.

α-thalassemia is one of the most common monogenic diseases worldwide and is caused by reduced or absent synthesis of α-globin chains, most commonly due to deletions of one or more of the α-globin genes. α-thalassemia occurs with high frequency in tropical and subtropical regions of the world and are very rarely found in the indigenous Scandinavian population. Here, we describe four rare forms of α-thalassemia out of which three are novel, found in together 20 patients of Norwegian origin.

Hb Calgary (: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype.

We describe two unrelated patients, both heterozygous for an unstable hemoglobin (Hb) variant named Hb Calgary (: c.194G>T) that causes severe hemolytic anemia and dyserythorpoietic, resulting in transfusion dependence and iron overload. The molecular pathogenesis is a missense variation on the β-globin gene, presumed to lead to an unstable Hb.

Hb Aalesund (: c.400_406delAGCACCG), an Unstable α-Globin Variant Found in a Norwegian Patient Causing Moderate Hemolytic Anemia and Falsely High Hb A Using Ion Exchange High Performance Liquid Chromatography.

A new unstable hemoglobin (Hb) variant, named Hb Aalesund, was detected during Hb A measurement in a patient with a nearly compensated hemolytic anemia. Sequencing of the α-globin genes revealed a 7 bp deletion in exon 3 of the gene (: c.400_406delAGCACCG) (NM_000517.

Characterization of Two Deep Intronic Variants on the β-Globin Gene with Inconsistent Interpretations of Clinical Significance.

Sequence variants located in the introns of the β-globin gene may affect the mRNA processing and cause β-thalassemia (β-thal). Sequence variants that change one of the invariant dinucleotides at the exon-intron boundaries may have fatal consequences for normal mRNA splicing. Intronic variants located far from obvious regulatory sequences can be more difficult to evaluate.

Hb Oslo [β42(CD1)Phe→Ile; HBB: c.127T>A]: A Novel Unstable Hemoglobin Variant Found in a Norwegian Patient.

Unstable hemoglobin (Hb) variants are the result of sequence variants in the globin genes causing precipitation of Hb molecules in red blood cells (RBCs). Intracellular inclusions derived from the unstable Hb reduce the life-span of the red cells and may cause hemolytic anemia. Here we describe a patient with a history of hemolytic anemia and low oxygen saturation.

Acute impairing effects of morphine related to driving: A systematic review of experimental studies to define blood morphine concentrations related to impairment in opioid-naïve subjects.

Objective: The objective of this study was to look for dose- and concentration-effect relationships in experimental studies on single-dose administration of morphine on traffic-relevant behavioral tests by a systematic literature review and possibly to see whether a dose/concentration could be defined below which few or no tests would be affected.

Methods: Searches for corresponding literature were conducted using MEDLINE, EMBASE, and PsycINFO, throughout March of 2016. The search strategy consisted of words colligated to cognitive and psychomotor functions of relevance to driving, in relation to morphine administration.

Long-term stability of morphine, codeine, and 6-acetylmorphine in real-life whole blood samples, stored at -20°C.

Purpose: Stability of drugs during storage is important in forensic toxicology. For the analytes detected after intake of heroin (6-acetylmorphine (6-AM), morphine and codeine), long-time stability in real life whole blood samples are studied in only a small number of cases.

Methods: Whole blood post mortem (n=37) and whole blood samples from living persons (n=22) containing morphine and codeine as well as 6-AM in blood or urine were selected.

Can patients receiving opioid maintenance therapy safely drive? A systematic review of epidemiological and experimental studies on driving ability with a focus on concomitant methadone or buprenorphine administration.

Objective: To perform a systematic review of the present scientific literature on the treatment with methadone or buprenorphine related to (1) traffic accident risk in epidemiological studies and (2) their effects on cognitive and psychomotor functions of relevance to driving in experimental studies.

Methods: Searches for corresponding literature were conducted in MEDLINE, EMBASE, and PsycINFO throughout March and June of 2010. The search strategy consisted of words colligated to accident risk and culpability, in addition to cognitive and psychomotor functions of relevance to driving, all in relation to methadone or buprenorphine administration.

Long-term stability of GHB in post-mortem samples and samples from living persons, stored at -20°C, using fluoride preservatives.

Purpose: Reanalyses are frequently requested in forensic toxicology, and knowledge of the stability of drugs in biological samples is of major importance for the interpretation of the toxicological findings. Currently, the literature on stability of gammahydroxybutyrate (GHB) in blood samples from living subjects and in post-mortem blood is limited. The purpose of this study was to evaluate the long-term stability of GHB in both blood samples from persons suspected of drug use and post-mortem blood samples.

[Clinical trials in Norway--completion and reporting are not satisfactory].

Objective: To investigate how drug trials are carried out and reported in Norway and to what extent they are published.

Material And Methods: All drug trials notified in 1996 were included in the study. Data were obtained from the standard notification form, correspondence with investigators, end-of-study reports, and a questionnaire designed for this study.