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Related Concept Videos

Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
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
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
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Updated: Jun 16, 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

Beta-thalassemia.

Antonio Cao1, Renzo Galanello

  • 1Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Cagliari, Italy.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|January 26, 2010
PubMed
Summary
This summary is machine-generated.

Beta-thalassemia, a genetic blood disorder, stems from reduced or absent beta-globin synthesis. Population screening and genetic counseling are vital for informed reproductive decisions and managing this condition.

Related Experiment Videos

Last Updated: Jun 16, 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

Area of Science:

  • Hematology
  • Genetics
  • Molecular Biology

Background:

  • Beta-thalassemia encompasses a spectrum of disorders caused by impaired beta-globin synthesis, leading to anemia.
  • Clinical severity ranges from asymptomatic carrier states to transfusion-dependent thalassemia major.
  • The condition arises from mutations in the beta globin (HBB) gene on chromosome 11.

Purpose of the Study:

  • To outline the genetic basis and clinical spectrum of beta-thalassemia.
  • To discuss the molecular heterogeneity and phenotypic variability of the disorder.
  • To highlight the importance of population screening, genetic counseling, and current/investigational therapies.

Main Methods:

  • Review of molecular genetics of beta-thalassemia.
  • Analysis of clinical and hematological manifestations.
  • Examination of population screening strategies and therapeutic approaches.

Main Results:

  • Over 200 mutations identified in the HBB gene, causing diverse phenotypes.
  • Phenotype is influenced by HBB allelic heterogeneity and extragenic factors affecting metabolism.
  • Population screening in Mediterranean regions aids reproductive decision-making.

Conclusions:

  • Beta-thalassemia severity is linked to globin chain imbalance and genetic modifiers.
  • Effective management includes transfusions, chelation, and potentially bone marrow transplantation.
  • Ongoing research focuses on fetal hemoglobin induction and gene therapy for definitive cures.