Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Hematological studies in children with Down syndrome

O David1, G C Fiorucci, M T Tosi

  • 1Ospedale Infantile Regina Margherita, Torino, Italy.

Pediatric Hematology and Oncology
|May 1, 1996
PubMed
Summary

Children with Down syndrome (DS) exhibit erythrocyte macrocytosis, likely due to an altered folate remethylation pathway linked to cystathionine beta-synthase (CBS) activity on chromosome 21, not reduced red cell survival.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Diagnosis and management of acquired aplastic anemia in childhood. Guidelines from the Marrow Failure Study Group of the Pediatric Haemato-Oncology Italian Association (AIEOP).

Blood cells, molecules & diseases·2024
Same author

Resilience strengthening in youth with a chronic medical condition: a randomized controlled feasibility trial of a combined app and coaching program.

European child & adolescent psychiatry·2024
Same author

DaTSCAN® dilution with 0.9% NaCl - A stability evaluation.

Applied radiation and isotopes : including data, instrumentation and methods for use in agriculture, industry and medicine·2023
Same author

An unusual presentation of dysarthria in a young patient, a stroke mimic.

Acute medicine·2021
Same author

Determinants of Antimicrobial Use for Covid-19 Related Symptoms among Nigerians.

West African journal of medicine·2021
Same author

Fabrication and characterization of polyimide-based 'smooth' titanium nitride microelectrode arrays for neural stimulation and recording.

Journal of neural engineering·2019

Area of Science:

  • Genetics
  • Hematology
  • Biochemistry

Background:

  • Down syndrome (DS) is associated with erythrocyte macrocytosis in various age groups.
  • The underlying mechanisms and clinical significance of macrocytosis in DS remain poorly understood.

Purpose of the Study:

  • To investigate the hematological parameters in children with Down syndrome.
  • To explore the potential causes of macrocytosis in DS, including red blood cell survival and folate metabolism.

Main Methods:

  • Compared hematological parameters (including mean corpuscular volume and hemoglobin) of 50 children with DS (aged 2-15 years) with 68 age-matched healthy children.
  • Assessed erythrocyte creatine, hexokinase activity, folate levels, vitamin B12, haptoglobin, serum iron, and ferritin in both groups.

Related Experiment Videos

Main Results:

  • Children with DS showed significantly higher mean corpuscular volume and hemoglobin levels compared to controls.
  • No significant differences were observed in erythrocyte creatine, hexokinase activity, folate, vitamin B12, haptoglobin, serum iron, or ferritin between DS patients and controls.

Conclusions:

  • Macrocytosis in Down syndrome may stem from an altered folate remethylation pathway, potentially due to enhanced cystathionine beta-synthase (CBS) activity.
  • This altered pathway, linked to the gene on chromosome 21, is a more probable cause than reduced red blood cell survival.