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Related Concept Videos

Sex-linked Disorders01:43

Sex-linked Disorders

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Overview
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X-linked Traits01:19

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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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Hemostasis is a crucial process that prevents excessive blood loss from damaged blood vessels. It involves various mechanisms such as vasoconstriction, platelet adhesion and activation, and fibrin formation. The importance of each mechanism depends on the type of vessel injury. In contrast, thrombosis is the abnormal formation of a blood clot within the blood vessels, leading to potential complications if the clot obstructs blood flow. Thrombosis can be caused by increased coagulability of the...
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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.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
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Extrinsic and Intrinsic Pathways of Hemostasis01:20

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Blood clotting or coagulation involves extrinsic and intrinsic pathways, which ultimately merge into the common pathway, forming a fibrin clot.
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Related Experiment Video

Updated: May 21, 2025

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
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Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

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A Family With Factor VII Deficiency: A Possible Autosomal Dominant Transmission.

Zheng Song1, Stephenie Garcia1, Thiagarajan Nandhagopal2

  • 1Family Medicine, Rio Bravo Family Medicine Residency Program, Bakersfield, USA.

Cureus
|May 19, 2025
PubMed
Summary

A rare factor VII deficiency caused severe anemia and heavy menstrual bleeding in an 11-year-old girl. Treatment with recombinant factor VII was successful, and family screening suggested a dominant inheritance pattern.

Keywords:
autosomal dominant inheritancecoagulation disorderfactor vii deficiencygenetic transmissionhereditary bleeding disorder

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Area of Science:

  • Hematology
  • Genetics
  • Pediatrics

Background:

  • Coagulation factor VII is vital for the extrinsic pathway of hemostasis.
  • Factor VII deficiency is a rare cause of abnormal uterine bleeding (AUB).

Observation:

  • An 11-year-old girl presented with prolonged heavy menstrual bleeding and hemodynamic instability.
  • Initial labs showed prolonged PT/INR with normal PTT, indicating a potential coagulation factor issue.

Findings:

  • Severe factor VII deficiency was confirmed by activity assay.
  • The patient's bleeding was effectively managed using recombinant human factor VII.
  • Family screening indicated reduced factor VII activity in maternal relatives, suggesting possible dominant inheritance.

Implications:

  • Highlights factor VII deficiency as a critical differential diagnosis for AUB in adolescents.
  • Demonstrates the efficacy of recombinant factor VII in managing acute bleeding episodes.
  • Underscores the need for genetic testing to confirm inheritance patterns in coagulation disorders.