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Related Concept Videos

Blood Transfusion01:15

Blood Transfusion

Blood transfusion is a critical medical procedure that saves lives and treats various medical conditions. It involves transferring blood from a donor to a recipient. This process requires a thorough understanding of the ABO blood group system and its associated antigens and antibodies.
Blood Transfusion Overview
A blood transfusion is a medical procedure used to replace blood lost due to injury, surgery, or to treat conditions such as anemia or cancer. During a transfusion, donor blood is...
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Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
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Gene Families01:57

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Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
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Related Experiment Video

Updated: Jun 1, 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

Haemoglobinopathy diagnosis: algorithms, lessons and pitfalls.

Barbara J Bain1

  • 1Department of Haematology, St Mary's Hospital and St Mary's Hospital Campus of Imperial College Faculty of Medicine, London, UK. b.bain@ic.ac.uk

Blood Reviews
|May 21, 2011
PubMed
Summary
This summary is machine-generated.

Diagnosing haemoglobinopathies like thalassaemias relies on screening and diagnostic tests. Definitive diagnosis requires advanced methods like DNA or protein analysis following initial presumptive testing.

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A Point-of-Care Method with Integrated Decision Support Tool to Estimate Anemia at Population Level
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Published on: January 19, 2024

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Last Updated: Jun 1, 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

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

Area of Science:

  • Hematology
  • Medical Diagnostics

Background:

  • Haemoglobinopathies, including thalassaemias, are diagnosed via clinical suspicion or screening.
  • Screening programs vary, including preoperative, neonatal, antenatal, and targeted risk groups.

Purpose of the Study:

  • To outline diagnostic approaches for haemoglobinopathies.
  • To discuss the evolution and application of various diagnostic methods.

Main Methods:

  • High-performance liquid chromatography (HPLC) is a primary screening tool.
  • Hemoglobin electrophoresis and isoelectric focusing are used, especially for newborns.
  • Capillary electrophoresis is gaining traction.

Main Results:

  • Screening aims for early diagnosis, informed reproductive choices, and prevention.
  • Diagnostic algorithms differ based on the clinical setting.
  • Current methods provide presumptive diagnoses.

Conclusions:

  • Definitive diagnosis of haemoglobinopathies necessitates DNA analysis or protein analysis (e.g., tandem mass spectrometry).
  • The choice of diagnostic method depends on the specific clinical context and screening program.