Related Experiment Video

Updated: Jul 6, 2026

A Point-of-Care Method with Integrated Decision Support Tool to Estimate Anemia at Population Level
05:35

A Point-of-Care Method with Integrated Decision Support Tool to Estimate Anemia at Population Level

Published on: January 19, 2024

[Anemia in children]

Hideki Muramatsu1, Seiji Kojima

  • 1Department of Pediatrics, Nagoya University Graduate School of Medicine.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|March 11, 2008
PubMed

Insights

Pediatric anemia often stems from common causes, but rare genetic bone marrow failure syndromes like Shwachman-Diamond syndrome (SDS), Diamond-Blackfan anemia (DBA), and dyskeratosis congenita (DC) involve defective ribosome synthesis.

Area of Science:

  • Pediatric Hematology
  • Molecular Genetics
  • Ribosome Biology

Context:

  • Anemia is a frequent pediatric symptom with diverse etiologies.
  • Most childhood anemias are diagnosed via standard clinical and laboratory methods.
  • Rarely, genetic bone marrow failure syndromes underlie pediatric anemia.

Purpose:

  • To review recent advancements in understanding the molecular mechanisms of rare pediatric bone marrow failure syndromes.
  • To highlight the role of defective ribosome synthesis in these conditions.
  • To underscore the significance of gene products in ribosomal biogenesis and hematopoiesis.

Summary:

  • This review focuses on rare genetic bone marrow failure syndromes causing childhood anemia, including Shwachman-Diamond syndrome (SDS), Diamond-Blackfan anemia (DBA), and dyskeratosis congenita (DC).
  • These syndromes are characterized by defects in ribosome synthesis.
  • The precise function of gene products in ribosome biogenesis and blood cell formation is explored.

Impact:

  • Understanding these molecular pathways can improve diagnosis and prognosis for children with rare anemias.
  • Insights into defective ribosome synthesis may reveal therapeutic targets.
  • Advances in molecular mechanisms offer potential for novel treatment strategies.

More Related Videos

Continuous Manual Exchange Transfusion for Patients with Sickle Cell Disease: An Efficient Method to Avoid Iron Overload05:23

Continuous Manual Exchange Transfusion for Patients with Sickle Cell Disease: An Efficient Method to Avoid Iron Overload

Published on: March 14, 2017

Robot-Assisted Laparoscopic Splenectomy In Children: A Case Report with Literature Review05:06

Robot-Assisted Laparoscopic Splenectomy In Children: A Case Report with Literature Review

Published on: March 27, 2026

Related Concept Videos

Disorders of Erythrocytes01:27

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...
Overview of Hematopoiesis01:20

Overview of Hematopoiesis

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
Initially, HSCs are formed in the embryonic yolk sac, a critical site for early blood cell production. These stem cells subsequently migrate to other...
Factors Affecting Erythropoiesis01:24

Factors Affecting Erythropoiesis

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...
Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption01:23

Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption

Understanding the physiological differences in the pediatric population is crucial for effective pharmacotherapy. Neonates, infants, and children exhibit significant variations in gastric pH, gastric emptying time, intestinal transit time, and biliary function. These variations profoundly affect oral drug absorption, necessitating a nuanced approach to pediatric dosing.Neonates present with a unique physiological profile, having a gastric pH greater than 4 and faster and more irregular gastric...
Chronic Kidney Disease II: Clinical Manifestations01:24

Chronic Kidney Disease II: Clinical Manifestations

Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
Erythropoiesis01:14

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...