Sökning: "Carriers of haemophilia"

Hittade 5 avhandlingar innehållade orden Carriers of haemophilia.

1. 1. 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

3. 2. Bleeding tendency and health-related quality of life in carriers of haemophilia

   Författare :Anna Olsson; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Carriers of haemophilia; Bleeding; SF-36; Thrombin generation; Genotype;

   Sammanfattning : Haemophilia A and B are X-linked disorders caused by impaired synthesis of coagulation factors VIII and IX, respectively. Women who carry the haemophilia trait have about 50 % of normal factor levels. LÄS MER

4. 3. Register-based studies to assess long-term outcome in haemophilia

   Författare :Mehdi Osooli; Malmö Klinisk koagulationsmedicin; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Registers; Haemophilia; Carriers of haemophilia; Long-term outcomes; Joint surgery; Survival; Longitudinal Studies;

   Sammanfattning : IntroductionHaemophilia is a X-linked bleeding disorder affecting mostly males. Women are mainly carriers ofhaemophilia, however, they can expereince high bleeding tendency and assocaited symptoms aswith males. In the absence of the appropriate treatment, bleedings, especially into the joints, result inadverse outcomes. 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. Perceived burden, lived experiences and experiences of learning processes and illness management in parents of children with severe or moderate haemophilia

   Författare :Linda Myrin-Westesson; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Haemophilia; child; parent; family; learning; experiences; disease illness burden;

   Sammanfattning : Haemophilia is a complex condition to manage, especially for parents of newly diagnosed children, and the illness affects the whole family. The parents are deeply involved in the child’s treatment, as they frequently have to administer intravenous injections at home. LÄS MER