Related Experiment Video

Updated: May 7, 2026

Detection of Residual Donor Erythroid Progenitor Cells after Hematopoietic Stem Cell Transplantation for Patients with Hemoglobinopathies
11:59

Detection of Residual Donor Erythroid Progenitor Cells after Hematopoietic Stem Cell Transplantation for Patients with Hemoglobinopathies

Published on: September 6, 2017

The effect of HFE polymorphisms on cardiac iron overload in patients with beta-thalassemia major

Aysen Turedi1, Yesim Oymak, Timur Meşe

  • 1Department of Pediatric Hematology, Diyarbakir Children's Hospital , Diyarbakir , Turkey.

Pediatric Hematology and Oncology
|October 4, 2013
PubMed

Insights

Human hemochromatosis protein (HFE) polymorphisms did not affect cardiac iron overload in beta-thalassemia major patients. However, these polymorphisms may indicate diastolic dysfunction detected by pulmonary vein flow velocity.

Area of Science:

  • Cardiology
  • Genetics
  • Hematology

Background:

  • Beta-thalassemia major patients often develop cardiac iron overload due to regular transfusions.
  • Human hemochromatosis protein (HFE) gene polymorphisms are associated with iron metabolism.
  • The impact of HFE polymorphisms on cardiac iron in beta-thalassemia major is not well understood.

Purpose of the Study:

  • To investigate the association between HFE gene polymorphisms and cardiac iron overload.
  • To evaluate cardiac function using echocardiography and MRI in patients with beta-thalassemia major and HFE polymorphisms.

Main Methods:

  • 33 beta-thalassemia major patients undergoing transfusion and chelation therapy were studied.
  • Echocardiography (M-mode, tissue Doppler, pulsed wave Doppler) and T2* MRI were performed.
  • Polymerase chain reaction was used to analyze HFE polymorphisms (H63D, C282Y, etc.).

Main Results:

  • The H63D polymorphism was found in 6 patients; no other polymorphisms were detected.
  • No significant correlation was observed between HFE polymorphisms and serum ferritin or cardiac iron levels (T2* MRI).
  • Pulmonary vein atrial reversal flow velocity, indicative of diastolic dysfunction, was significantly higher in patients with HFE polymorphisms (P = .036).

Conclusions:

  • HFE polymorphisms do not influence cardiac iron overload in beta-thalassemia major.
  • Pulmonary vein atrial reversal flow velocity may serve as an early marker for diastolic dysfunction in these patients.
  • Further research with larger cohorts is recommended to elucidate the role of HFE polymorphisms.
Abstract

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

Measurement of Tissue Non-Heme Iron Content using a Bathophenanthroline-Based Colorimetric Assay05:08

Measurement of Tissue Non-Heme Iron Content using a Bathophenanthroline-Based Colorimetric Assay

Published on: January 31, 2022

Related Concept Videos

Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...