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Related Concept Videos

Karyotyping01:17

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...
Pedigree Analysis01:35

Pedigree Analysis

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Blood Typing01:10

Blood Typing

Understanding an individual's blood group is a critical component of transfusion medicine. It ensures compatibility in blood transfusions, organ transplants, and even during pregnancy. Determining these blood groups involves the ABO and Rh blood typing systems, utilizing specific antigens and corresponding anti-sera to identify an individual's blood type.
Antigens are protein molecules that reside on the surface of red blood cells (RBCs). The ABO and Rh blood typing systems target antigens A,...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Disorders of Erythrocytes01:27

Disorders of Erythrocytes

Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
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Related Experiment Video

Updated: Jul 15, 2026

A Rapid and Chemical-free Hemoglobin Assay with Photothermal Angular Light Scattering
05:18

A Rapid and Chemical-free Hemoglobin Assay with Photothermal Angular Light Scattering

Published on: December 7, 2016

Diagnostic approach to hemoglobinopathies.

Ferdane Kutlar1

  • 1Titus H.J. Huisman Hemoglobinopathy Laboratory, Sickle Cell Center, Medical College of Georgia, Augusta, Georgia, USA. fkutlar@mail.mcg.edu

Hemoglobin
|May 9, 2007
PubMed
Summary

Diagnosing hemoglobinopathies, common inherited blood disorders, involves a stepwise approach. This includes clinical history, blood tests, protein analysis, and genetic methods for accurate identification.

Area of Science:

  • Hematology
  • Medical Genetics

Background:

  • Hemoglobinopathies are common inherited disorders affecting hemoglobin synthesis.
  • These disorders are classified as quantitative (thalassemias) or qualitative (variant Hbs).

Purpose of the Study:

  • To present a stepwise algorithmic approach for the definite identification of hemoglobinopathies.
  • To review the application of diagnostic methods at a specialized Sickle Cell Center Laboratory.

Main Methods:

  • Clinical history and hematologic evaluation (CBC, reticulocyte count, RBC morphology).
  • Protein-based methods: Hb electrophoresis, isoelectric focusing (IEF), cation exchange and reversed-phase HPLC.
  • Nucleic acid-based methods: PCR, RT-PCR, DNA/cDNA sequencing.
  • Functional/stability tests: p50 determination, Heinz body preparation, isopropanol/heat stability tests.

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

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Last Updated: Jul 15, 2026

A Rapid and Chemical-free Hemoglobin Assay with Photothermal Angular Light Scattering
05:18

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

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Main Results:

  • A comprehensive diagnostic algorithm integrates various analytical techniques.
  • The described methods enable precise identification of both quantitative and qualitative hemoglobin abnormalities.
  • Confirmatory tests and family studies aid in diagnosing functional or stability issues.

Conclusions:

  • A systematic, multi-method approach is crucial for accurate hemoglobinopathy diagnosis.
  • The integration of hematologic, protein-based, and nucleic acid-based methods ensures comprehensive evaluation.
  • Specialized laboratory reviews demonstrate the practical application of these diagnostic strategies.