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Erythropoiesis

Erythropoiesis

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, and...

Erythropoiesis

Erythropoiesis

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, and...

Disorders of Erythrocytes

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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.
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Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes

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Related Experiment Video

Updated: May 20, 2026

A Comprehensive Pipeline to Assess the Efficiency of Human Erythropoiesis In Vitro and Ex Vivo

A Comprehensive Pipeline to Assess the Efficiency of Human Erythropoiesis In Vitro and Ex Vivo

Published on: January 10, 2025

New developments in erythropoietic porphyrias.

E Darwich¹, C Herrero

¹Departamento de Dermatología, Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, Spain. chevedarwich@yahoo.es

Actas Dermo-Sifiliograficas

|July 7, 2012

Summary

Recent genetic discoveries reveal porphyrias like EPP and CEP are not strictly monogenic. Identifying novel gene mutations explains patient variability and aids in diagnosing previously unexplained cases.

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Last Updated: May 20, 2026

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Mouse Fetal Liver Culture System to Dissect Target Gene Functions at the Early and Late Stages of Terminal Erythropoiesis

Mouse Fetal Liver Culture System to Dissect Target Gene Functions at the Early and Late Stages of Terminal Erythropoiesis

Published on: September 9, 2014

Area of Science:

Genetics
Biochemistry
Molecular Biology

Background:

Porphyrias, specifically erythropoietic protoporphyria (EPP) and congenital erythropoietic porphyria (CEP), were traditionally viewed as monogenic disorders.
Recent research indicates a more complex genetic basis for these conditions.

Purpose of the Study:

To elucidate the genetic underpinnings of EPP and CEP beyond single-gene mutations.
To explain genotypic and phenotypic variations among patients with porphyrias.
To identify causative genetic defects in patients lacking mutations in known genes (UROS for CEP, FECH for EPP).

Main Methods:

Genetic sequencing and mutation analysis.
Identification of novel causative genes and genetic modulators.
Comparative analysis of genotypic and phenotypic data.

Main Results:

Advances in understanding the genetics of porphyrias, particularly EPP and CEP.
Identification of mutations in previously unassociated genes as causative or severity-modulating factors.
Discovery of genetic defects in patients negative for UROS or FECH mutations.

Conclusions:

EPP and CEP are not solely monogenic, with multiple genes influencing their expression.
Understanding these complex genetic interactions is crucial for accurate diagnosis and prognosis.
Improved molecular classification of porphyrias based on comprehensive genetic characterization is needed.