Sökning: "Haemophilia B"

Visar resultat 1 - 5 av 9 avhandlingar innehållade orden Haemophilia B.

1. 1. Haemophilia B - Diagnostic Insights, Genetic Aspects and Clinical Outcomes

   Författare :Kristina Kihlberg; Institutionen för translationell medicin; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Coagulation factor IX; Haemophilia B; Haemophilia A; F9 variant; Assay discrepancy; Chromogenic assay; One-stage assay; Bleeding disorders; Quality of life; Immune tolerance induction; Non-neutralising antibodies; Inhibitors; Treatment Adherence; Arthropathy;

   Sammanfattning : Haemophilia B (HB) is a rare inherited bleeding disorder caused by the deficiency of coagulation factor IX (FIX). The major clinical issues are bleedings, often targeting the joints, and the development of neutralising antibodies, i.e. inhibitors, to the FIX replacement therapy. LÄS MER

3. 2. Pharmacokinetic dosing of factor VIII and factor IX in prophylactic treatment of haemophilia

   Författare :Maj Carlsson; Malmö Klinisk koagulationsmedicin; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Haematology; Prophylaxis; Pharmacokinetics; Pharmaceutical service; Haemophilia B; Haemophilia A; Factor IX; Factor VIII; Drug distribution; Cost-effectiveness; Dosage; extracellular fluids; Hematologi; extracellulära vätskor;

   Sammanfattning : The aim of the thesis was to increase cost-effectiveness in prophylactic treatment of haemophilia. Prophylaxis is effective to prevent bleedings and arthropathy, but the high cost limits its use. First, a new distribution system for clotting factor concentrates was implemented in Sweden to improve availability and reduce risks and costs. LÄS MER

4. 3. Haemophilia in Sweden – Studies on mutations and clinical implications

   Författare :Annika Mårtensson; Enheten för pediatrisk hematologi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; haemophilia; factor VIII; factor IX; factor 8 gene; factor 9 gene; carriers; prenatal diagnosis; mutations; inhibitors; haplotype;

   Sammanfattning : Introduction: Haemophilia A (HA) and B (HB) are two of our most common inherited bleeding disorders and are due to a variety of gene mutations. Aims: The overall objective of the present research was to perform clinical and basic scientific studies on haemophilia in Sweden to further improve and individualise the care of haemophilia patients and their relatives. LÄS MER

5. 4. Prenatal Diagnosis of Haemophilia - psychological, social and ethical aspects

   Författare :Ulf Tedgård; Enheten för pediatrisk hematologi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; reproduction; sense of coherence; risk factors; psychological reactions; genetic counselling; chorionic villus sampling; fetal blood sampling; fetoscopy; Haemophilia; prenatal diagnosis; therapeutic abortion; follow-up study; Pediatrics; Pediatri;

   Sammanfattning : The general aim of this study has been to study the psychological, social and ethical aspects for carriers of haemophilia and their spouses, related to the development of techniques for carrier testing and for prenatal diagnosis (PD) of haemophilia. This was investigated by a semi-structured follow-up interview with 29 carriers of haemophilia with experience of PD by fetal blood sampling (FBS), and with 29 carriers (and 23 spouses) with experience of PD by chorionic villus sampling (CVS). LÄS MER

7. 5. Co-morbidity and mortality in Swedish patients with haemophilia - A register study

   Författare :Susanna Lövdahl; Malmö Klinisk koagulationsmedicin; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Haemophilia; registry; HIV; viral hepatitis; malignancy; hypertension; cardiovascular disease;

   Sammanfattning : Haemophilia is an X-linked inherited recessive disorder affecting males. The increased risk of hemorrhage is explained by the deficiency in either coagulation factor VIII (haemophilia A) or IX (haemophilia B). The severity of haemophilia A and B is characterized by the bleeding pattern. LÄS MER