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Related Concept Videos

Disorders of Erythrocytes01:27

Disorders of Erythrocytes

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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...
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Hematopoiesis01:21

Hematopoiesis

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The process of blood cell formation is called hematopoiesis. Hematopoiesis starts early during development, on the seventh day of embryogenesis. This phase of hematopoiesis is called the primitive wave, wherein the extraembryonic yolk sac allows the production of erythroid cells and endothelial cells from a common precursor called hemangioblast. The erythroid cells provide oxygen to support the growth of the rapidly dividing embryo. Hemangioblasts later develop into hematopoietic stem cells or...
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Erythropoiesis01:14

Erythropoiesis

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Red blood cells  (RBCs) transport oxygen to all body tissues. These cells survive only for 120 days and then need to be replenished. Erythropoiesis is the process of RBC production. In healthy individuals, erythropoiesis ensures all tissues are amply supplied with oxygen. In addition, blood loss due to injury leads to a drop in the physiological oxygen level that will cause erythropoiesis. Any defect in erythropoiesis leads to several physiological disorders, including thalassemia, anemia,...
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Factors Affecting Erythropoiesis01:24

Factors Affecting Erythropoiesis

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The cardiovascular system regulates the number of erythrocytes in the bloodstream to ensure optimal oxygen transport. It also prevents over-proliferation of these cells, which helps to maintain blood viscosity and flow rate.
Several factors influence the erythrocyte production rate, with tissue oxygen level being among the most critical. Intense exercise or high altitudes can cause tissue hypoxia, which triggers the kidneys to release more erythropoietin (EPO) into the bloodstream.
EPO then...
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Bone Marrow Sampling and Transplants01:22

Bone Marrow Sampling and Transplants

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Bone marrow transplant is a potential cure for several diseases, including cancer and specific genetic disorders. Notably, this procedure is applicable for patients suffering from aplastic anemia, certain types of leukemia, severe combined immunodeficiency disease (SCID), Hodgkin's disease, non-Hodgkin's lymphoma, multiple myeloma, thalassemia, sickle-cell disease, and certain cancers.
The transplant begins with high doses of chemotherapy and radiation treatment, which aim to destroy...
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Overview of Hematopoiesis01:20

Overview of Hematopoiesis

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Hematopoiesis, or blood cell production, is a vital biological process that begins early in embryonic development and continues throughout life. This process generates the various types of cells found in blood, including red blood cells, white blood cells, and platelets from hematopoietic stem cells (HSCs).
Developmental Phases of Hematopoiesis
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Updated: May 11, 2025

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
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Polycythaemia vera.

Claire N Harrison1, Tiziano Barbui2, Prithviraj Bose3

  • 1Guy's and St Thomas' NHS Foundation Trust, London, UK. Claire.Harrison@gstt.nhs.uk.

Nature Reviews. Disease Primers
|April 17, 2025
PubMed
Summary
This summary is machine-generated.

Polycythaemia vera (PV) is a myeloproliferative neoplasm characterized by excess red blood cells. The JAK2V617F mutation is key for diagnosis and prognosis, with its reduction being an emerging treatment target.

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Area of Science:

  • Hematology
  • Oncology
  • Genetics

Background:

  • Polycythaemia vera (PV) is a myeloproliferative neoplasm.
  • PV presents with erythrocytosis, leukocytosis, and thrombocytosis.
  • Complications include thrombosis, hemorrhage, myelofibrosis, and blast phase transformation.

Purpose of the Study:

  • To review the diagnostic and prognostic significance of the JAK2V617F mutation in PV.
  • To discuss current and emerging treatment strategies for PV.
  • To highlight the JAK2V617F variant allele frequency as a potential therapeutic target.

Main Methods:

  • Review of current literature on Polycythaemia vera.
  • Analysis of the role of JAK2V617F mutation in PV diagnosis and management.
  • Evaluation of established and novel therapeutic interventions.

Main Results:

  • The JAK2V617F mutation is present in over 95% of PV patients and is crucial for diagnosis.
  • JAK2V617F variant allele frequency correlates with prognosis and complication risk.
  • Current treatments include phlebotomy, aspirin, and cytoreductive agents like hydroxyurea, interferon, and ruxolitinib.

Conclusions:

  • JAK2V617F mutation testing is essential for PV diagnosis and risk stratification.
  • Reducing JAK2V617F variant allele frequency is a promising therapeutic goal.
  • Long-term benefits of cytoreductive agents are emerging, potentially expanding their use in PV management.