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Related Concept Videos

Disorders of Hemostasis01:24

Disorders of Hemostasis

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Hemostasis, the process that stops bleeding after a blood vessel injury, is crucial for maintaining the integrity of the circulatory system. However, disorders of hemostasis can disrupt this delicate balance, leading to either excessive clotting or bleeding. These disorders can be broadly classified into thromboembolic disorders and bleeding disorders.
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Two factors primarily cause thromboembolic conditions.
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Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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Pedigree Analysis01:35

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Overview
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Pharmacogenomics: Identification of New Drug Targets01:29

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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

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Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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Blood Transfusion and Agglutination02:45

Blood Transfusion and Agglutination

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Blood transfusion is a therapeutic measure to restore the blood volume after extensive blood loss due to an accident or a medical procedure. Blood transfusion involves drawing a certain amount of blood from a suitable donor and infusing it into the recipient.
History
The history of blood transfusion dates back to the 17th century, when early attempts were made in animals. In 1818 James Blundell, a British doctor, performed the first successful human blood transfusion. Later in 1900, Karl...
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Related Experiment Video

Updated: Apr 30, 2026

The Nijmegen Hemostasis Assay: Simultaneous Fluorogenic Measurement of Thrombin and Plasmin Generation in a Single Well
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The Nijmegen Hemostasis Assay: Simultaneous Fluorogenic Measurement of Thrombin and Plasmin Generation in a Single Well

Published on: February 27, 2026

174

Genetic testing in bleeding disorders.

C de Brasi1, O El-Maarri, D J Perry

  • 1Instituto de Medicina Experimental (IMEX), CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina; Instituto de Investigaciones Hematologicas Mariano R Castex, Academia Nacional de Medicina, Buenos Aires, Argentina.

Haemophilia : the Official Journal of the World Federation of Hemophilia
|April 26, 2014
PubMed
Summary
This summary is machine-generated.

Molecular genetic analysis in haemophilia families identifies causative mutations. This knowledge aids patient care, inhibitor risk assessment, and carrier/prenatal diagnosis for relatives.

Keywords:
external quality assessmentgenetic analysishaemophilia Ahaemophilia Bintrachromosomal inversionmissing mutations

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Area of Science:

  • Medical Genetics
  • Molecular Biology
  • Haematology

Background:

  • Haemophilia is a genetic bleeding disorder requiring precise molecular diagnostics.
  • Identifying causative mutations is crucial for patient management and family screening.

Purpose of the Study:

  • To review advances in understanding and detecting haemophilia-causing mutations.
  • To highlight the importance of molecular genetic analysis in haemophilia families.

Main Methods:

  • Review of recent scientific literature on haemophilia mutations.
  • Discussion of mutation detection methodologies.
  • Emphasis on standardized reporting and quality assessment.

Main Results:

  • Mutation identification provides critical data for affected males regarding inhibitor risk and assay discrepancies.
  • Familial mutation knowledge enables accurate carrier status determination and prenatal diagnosis for female relatives.
  • Advances in understanding and detecting haemophilia mutations are continuously emerging.

Conclusions:

  • Molecular genetic analysis is essential for comprehensive haemophilia care.
  • Accurate mutation identification and reporting improve patient outcomes and family planning.
  • External quality assessment ensures reliable and informative genetic testing in haemophilia.