Sökning: "Inherited Bleeding Disorders"

Hittade 5 avhandlingar innehållade orden Inherited Bleeding Disorders.

  1. 1. Genetic Screening in Patients Suspected of Inherited Bleeding Disorders

    Författare :Marcus Fager Ferrari; Malmö Klinisk koagulationsmedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Bleeding; Inherited Bleeding Disorders; Platelet Dysfunction; Thrombocytopenia; Genetic Screening; High-Throughput Sequencing; STX11; STXBP2; UNC13D; FGB; COL1A1; COL3A1; COL5A1; COL5A2; GNE; Sialic Acid; Oseltamivir;

    Sammanfattning : Inherited bleeding disorders constitute a heterogeneous group of genetic diseases, affecting virtually all major components of the hemostatic system. The diagnostics are potentially complex, and a high proportion of patients remain without a conclusive diagnosis following work-up. LÄS MER

  3. 2. 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

  4. 3. 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

  5. 4. Microparticles in hemophilia : friend or foe? To improve hemostasis or to induce atherothrombosis?

    Författare :Yanan Zong; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : As one of the most well-known inherited bleeding disorders, hemophilia A (HA) is caused by the deficiency or dysfunction of coagulation factor VIII (FVIII). Patients with HA (PWHA) suffer from abnormal bleeding after injuries or surgeries, or even spontaneous bleeding in severe cases, particularly at joints and muscles. LÄS MER

  7. 5. 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