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

Hemoglobin E-beta thalassemia: factors affecting phenotype.

I Panigrahi1, S Agarwal, T Gupta

  • 1Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, U.P., India.

Indian Pediatrics
|May 7, 2005
PubMed
Summary
This summary is machine-generated.

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

Evolving treatment patterns and outcomes among patients with metastatic urothelial carcinoma post-avelumab maintenance approval: insights from The US Oncology Network.

ESMO real world data and digital oncology·2026
Same author

Surgical stage in the era of molecular profiling of endometrial cancer.

European journal of cancer (Oxford, England : 1990)·2025
Same author

Bi-doped CoTe nanoparticles for nonlinear and optoelectronic applications.

Dalton transactions (Cambridge, England : 2003)·2025
Same author

A Randomized Clinical Study Investigating the Stain Removal Efficacy of Two Experimental Dentifrices.

Journal of esthetic and restorative dentistry : official publication of the American Academy of Esthetic Dentistry ... [et al.]·2025
Same author

Sex discrimination, sexual harassment, and sexual assault in UK radiology training: a national survey.

Clinical radiology·2024
Same author

Re: Physician associates in interventional radiology: a new paradigm?

Clinical radiology·2024
Same journal

Erratum: A Prospective Study on the Effect of Antiseizure Medications on the Bone Mineral Density of Children with Drug-Naïve Epilepsy.

Indian pediatrics·2026
Same journal

Adding Purpose to Pulse: 2025 Pediatric Life Support Update.

Indian pediatrics·2026
Same journal

PEX6-Associated Heimler Syndrome 2 Presenting with Bernard-Soulier Syndrome.

Indian pediatrics·2026
Same journal

HLA Typing in Pediatric Celiac Disease: From Genetic Association to Clinical Application.

Indian pediatrics·2026
Same journal

Microbial Conversations Between the Gut and Urinary Tract: Emerging Implications for Kidney and Urinary Tract Diseases.

Indian pediatrics·2026
Same journal

Prevalence and Associated Social Factors of Prediabetes in Children and Adolescents in India: A Systematic Review and Meta-Analysis.

Indian pediatrics·2026
See all related articles

Genetic factors influence E-beta-thalassemia severity. Xmn I polymorphism heterozygosity delays disease onset, aiding early diagnosis and management for better patient outcomes.

Area of Science:

  • Hematology
  • Genetics
  • Molecular Biology

Background:

  • E-beta-thalassemia presents with variable severity due to multiple genetic factors.
  • Understanding these factors is crucial for effective patient management and diagnosis.

Purpose of the Study:

  • To analyze the severity of E-beta-thalassemia.
  • To correlate clinical presentation with hemoglobin E (HbE), hemoglobin F (HbF), E/F ratios, beta-globin gene mutations, and Xmn I polymorphism.

Main Methods:

  • Studied 30 E-beta-thalassemia cases, focusing on clinical features and genetic markers.
  • Quantified HbE using High-Performance Liquid Chromatography (HPLC).
  • Analyzed Xmn I polymorphism and beta-mutations via Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) and Amplification Refractory Mutation System (ARMS), respectively.

Related Experiment Videos

Main Results:

  • Common symptoms included pallor, splenomegaly, and hepatomegaly; 43% required regular transfusions at diagnosis.
  • Heterozygosity for Xmn I polymorphism was associated with a later age of onset (>3 years) compared to homozygous absence (0.5-2.8 years).
  • The IVS 1-5 (G-->C) beta-mutation was most prevalent (69.6%). A negative correlation existed between age of onset and HbE levels.

Conclusions:

  • Clinical presentation aligns with previous findings in Thai populations.
  • Xmn I polymorphism heterozygosity significantly delays disease onset.
  • Early diagnosis is essential for timely management and prenatal diagnosis of E-beta-thalassemia.