Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Disorders of Erythrocytes

Disorders of Erythrocytes

Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...

Sex-linked Disorders

Sex-linked Disorders

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.

Inborn Errors of Metabolism

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...

Translation

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life

Translation

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life

Rh Blood Group

Rh Blood Group

The Rhesus (Rh) antigen is crucial in determining blood groups and ensuring compatibility during blood transfusions.

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Eltrombopag for Newly Diagnosed Pediatric Immune Thrombocytopenia Requiring Treatment: The PINES Randomized Clinical Trial.

JAMA·2025

Same author

Lessons Learned from National Heart, Lung, and Blood Institute Covid-19 Clinical Trials.

NEJM evidence·2024

Same author

Costs and impact of disease in adults with sickle cell disease: a pilot study.

Blood advances·2024

Same author

Paediatric-onset Evans syndrome: Breaking away from refractory immune thrombocytopenia.

British journal of haematology·2023

Same author

Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for ultra-rare inherited bleeding disorders.

Expert review of hematology·2023

Same author

Use of COVID-19 Convalescent Plasma for Treatment of Symptomatic SARS-CoV-2 Infection at a Children's Hospital: A Contribution to a Still Inadequate Body of Evidence.

Children (Basel, Switzerland)·2023

Same journal

Dynamic myeloid suppressor states in cancer and inflammation and their therapeutic potential.

Current opinion in hematology·2026

Same journal

Factor XIa inhibition for the prevention of thrombosis: mechanism, clinical trial signals, and indication-specific positioning.

Current opinion in hematology·2026

Same journal

Nutrition as a regulator of hematopoietic stem cell biology and transplantation.

Current opinion in hematology·2026

Same journal

From biomimicry to clinical actionability: rethinking high-shear thrombosis as a mechanobiological system.

Current opinion in hematology·2026

Same journal

Bidirectional relationship between metabolic and thrombotic disease mechanisms.

Current opinion in hematology·2026

Same journal

The dual role of the brain-derived neurotrophic factor as a regulator of hemostasis and thrombotic risk.

Current opinion in hematology·2026

See all related articles

Search research articles

Related Experiment Video

Updated: May 19, 2026

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

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

Published on: September 9, 2012

Rare factor deficiencies.

Loan Hsieh¹, Diane Nugent

¹Pediatric Hematology Division, Childrens Hospital, Orange, California, USA.

Current Opinion in Hematology

|August 9, 2012

Summary

This summary is machine-generated.

Advancements in diagnostic tools and therapies are improving outcomes for patients with rare factor deficiencies. These innovations aid in earlier diagnosis and safer, more effective treatment regimens for bleeding disorders.

More Related Videos

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

Related Experiment Videos

Last Updated: May 19, 2026

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

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

Published on: September 9, 2012

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

Area of Science:

Hematology
Genetics
Clinical Medicine

Background:

Rare factor deficiencies affect fewer than 200,000 people in the US or 1 in 2000 in Europe.
Small patient populations pose challenges for diagnosis, bleeding risk assessment, and treatment.
Understanding rare bleeding disorders is crucial for improving patient care.

Purpose of the Study:

To highlight advancements in the diagnosis and treatment of rare factor deficiencies.
To discuss the impact of new assays, genetic sequencing, and global clotting assays on diagnosis.
To review emerging therapies and their effect on patient outcomes.

Main Methods:

Utilizing new diagnostic assays, including global clotting assays.
Employing whole genome sequencing for improved diagnostic accuracy.
Leveraging patient registries and clinical trials to evaluate new therapies.

Main Results:

New recombinant and plasma-derived therapies are available for monitoring and treatment.
Registries and trials show reduced bleeding and better outcomes with current treatments.
International registries are correlating genotype with bleeding phenotype using global assays.

Conclusions:

Continued research enhances understanding of rare factor deficiency pathophysiology.
Early diagnosis and novel treatments lead to safer, less sensitizing regimens.
Improved clinical outcomes are achieved through integrated diagnostic and therapeutic approaches.