Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Multiple Allele Traits

Multiple Allele Traits

The Concept of Multiple Allelism

Gene Families

Gene Families

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.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...

Principles of Pharmacogenetics: Types of Genetic Variants

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...

Protein Families

Protein Families

Protein families are groups of homologous proteins; that is, they have similarities in amino acid sequences and three-dimensional structures. Protein families usually occur because of gene duplication, where an additional copy of a gene is inserted into the genome of an organism. Mutations that change the amino acids but still allow the protein to be properly synthesized, will lead to new protein family members. If these new proteins contain similar amino acids in key locations, protein...

Hemoglobin

Hemoglobin

Hemoglobin is a globular protein made up of four subunits. Two of these subunits are alpha chains, and the other two are beta chains. Each subunit contains a molecule of heme, which has an iron atom and can bind to oxygen. When an oxygen molecule binds to one heme group, it changes the shape of hemoglobin, making it easier for the other heme groups to bind oxygen as well.
When all four heme groups are bound to oxygen, the resulting molecule is called oxyhemoglobin. As a result, arterial blood...

Globular and Fibrous Proteins

Globular and Fibrous Proteins

Many proteins can be classified into two distinct subtypes - globular or fibrous. These two types differ in their shapes and solubilities.
Globular proteins are also known as spheroproteins and typically are approximately round in shape. They contain a mix of amino acid types and contain differing sequences in their primary structures. Globular proteins have many different functions, such as enzymes, cellular messengers, and molecular transporters. These roles often require the proteins to be...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Cryptic Sex in <i>Leishmania</i> Depends on <i>SPO11</i> Paralogs.

bioRxiv : the preprint server for biology·2026

Same author

Initial Six Month's Study of Neonatal Covid-19 in a Tertiary Care Hospital of Bangladesh.

Mymensingh medical journal : MMJ·2024

Same author

When a synonymous mutation breaks the silence in a thalassaemia patient.

British journal of haematology·2023

Same author

Participatory asset mapping and photovoice interviews to scope cultural and community resources to reduce alcohol harm in Chitwan, Nepal.

Perspectives in public health·2023

Same author

Littoral cell neoplasm: A least understood splenic tumour.

Journal of postgraduate medicine·2023

Same author

A review of venous thromboembolism risk assessment models for different patient populations: What we know and don't!

Medicine·2023

Search research articles

Related Experiment Video

Updated: Jun 16, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Identification and Classification of Position-specific GABA_A Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

Five alpha globin chain variants identified during screening for haemoglobinopathies.

S Nair¹, A Nadkarni, P Warang

¹National Institute of Immunohaematology (I.C.M.R.), Mumbai 400 012, India.

European Journal of Clinical Investigation

|January 27, 2010

Summary

This study identified five rare alpha chain variants, including Hb Jackson and Hb O Indonesia in India, highlighting the importance of thorough screening for hemoglobinopathies. It also detected uncommon associations and a previously undetected variant.

More Related Videos

Optimized Protocol for the Extraction of Proteins from the Human Mitral Valve

Optimized Protocol for the Extraction of Proteins from the Human Mitral Valve

Published on: June 14, 2017

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Related Experiment Videos

Last Updated: Jun 16, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Identification and Classification of Position-specific GABA_A Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

Optimized Protocol for the Extraction of Proteins from the Human Mitral Valve

Optimized Protocol for the Extraction of Proteins from the Human Mitral Valve

Published on: June 14, 2017

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Area of Science:

Hematology
Molecular Biology
Genetics

Background:

Investigated microcytosis and hemolytic anemia cases with unusual High-Performance Liquid Chromatography (HPLC) peaks or abnormal electrophoretic mobility.
Focused on identifying molecular abnormalities, including those associated with common beta-globin gene defects.

Purpose of the Study:

To analyze cases of microcytosis and hemolytic anemia with atypical hemoglobin findings.
To identify the specific molecular abnormalities responsible for these hematological conditions.
To characterize rare alpha chain variants within the Indian population.

Main Methods:

Utilized complete blood count, HPLC analysis, and cellulose acetate electrophoresis (pH 8.9).
Performed heat stability tests and DNA sequencing for molecular characterization.
Employed family studies, including homozygous individuals, to identify heterozygous variants.

Main Results:

Identified five distinct alpha chain variants, including the novel detection of Hb Jackson and Hb O Indonesia in the Indian population.
Documented uncommon associations such as Hb J Meerut with Hb E and Hb J Paris I with heterozygous beta-thalassemia.
Successfully identified Hb Sun Prairie in its heterozygous state through family analysis.

Conclusions:

Emphasizes the necessity of systematic investigations during screening for beta hemoglobinopathies.
Highlights the importance of identifying rare alpha chain variants in population studies.
Underscores the role of advanced molecular techniques in diagnosing complex hematological disorders.