Genetic Techniques Used in the Diagnosis of Inherited Platelet Disorders

被引：4
|
作者：
Mumford, Andrew D. [1 ]
Westbury, Sarah K. [1 ]
机构：
[1] Univ Bristol, Sch Cellular & Mol Med, Bristol, Avon, England
来源：
SEMINARS IN THROMBOSIS AND HEMOSTASIS | 2019年 / 45卷 / 07期
关键词：
platelets; genetics; diagnosis; high-throughput sequencing; HUMAN PHENOTYPE ONTOLOGY; VARIANTS; THROMBOCYTOPENIA; MUTATION; ACCURATE; DEFECTS; DISEASE; PATHOGENICITY; GUIDELINES; STANDARDS;
D O I：
10.1055/s-0039-1687888
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Recent advances in genetic analysis are bringing huge benefits to patients with rare genetic disorders, including those with inherited disorders of platelet number and function. Modern clinical hematological practice now has a range of genetic techniques available to enable the precision diagnosis of inherited platelet disorders (IPDs). There are some features of this disparate group of inherited disorders that present specific challenges to establishing an accurate genetic diagnosis. This review aims to introduce the techniques that are relevant for the genetic diagnosis of IPDs and will discuss the key considerations necessary for their application to the clinic.
引用
收藏
页码：685 / 694
页数：10
相关论文
共 50 条
  • [1] Diagnosis of inherited platelet disorders
    Freson, K.
    [J]. HAEMOPHILIA, 2012, 18 : 156 - 156
  • [2] Diagnosis and Management of Inherited Platelet Disorders
    Kirchmaier, Carl Maximilian
    Pillitteri, Daniele
    [J]. TRANSFUSION MEDICINE AND HEMOTHERAPY, 2010, 37 (05) : 237 - 246
  • [3] Screening and diagnosis of inherited platelet disorders
    Bourguignon, Alex
    Tasneem, Subia
    Hayward, Catherine P.
    [J]. CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES, 2022, 59 (06) : 405 - 444
  • [4] Updates in diagnosis of the inherited platelet disorders
    Lambert, Michele P.
    [J]. CURRENT OPINION IN HEMATOLOGY, 2020, 27 (05) : 333 - 340
  • [5] Inherited Platelet Disorders: Diagnosis and Management
    Al-Huniti, Ahmad
    Kahr, Walter H. A.
    [J]. TRANSFUSION MEDICINE REVIEWS, 2020, 34 (04) : 277 - 285
  • [6] DIAGNOSIS OF INHERITED THROMBOCYTOPENIAS AND PLATELET FUNCTION DISORDERS
    Melazzini, Federica
    [J]. INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2023, 45 : 117 - 117
  • [7] Diagnosis of Inherited Platelet Disorders on a Blood Smear
    Zaninetti, Carlo
    Greinacher, Andreas
    [J]. JOURNAL OF CLINICAL MEDICINE, 2020, 9 (02)
  • [8] Laboratory diagnosis of inherited platelet function disorders
    Rand, Margaret L.
    Reddy, Emily C.
    Israels, Sara J.
    [J]. TRANSFUSION AND APHERESIS SCIENCE, 2018, 57 (04) : 485 - 493
  • [9] Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders
    Greinacher, A.
    Pecci, A.
    Kunishima, S.
    Althaus, K.
    Nurden, P.
    Balduini, C. L.
    Bakchoul, T.
    [J]. JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2017, 15 (07) : 1511 - 1521
  • [10] Characteristics, diagnosis, and treatment of inherited platelet disorders in mammals
    Boudreaux, Mary K.
    [J]. JAVMA-JOURNAL OF THE AMERICAN VETERINARY MEDICAL ASSOCIATION, 2008, 233 (08): : 1251 - 1259
12345