Related Experiment Video
Updated: May 4, 2026
07:24
A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
1.4K
Hemoglobin Fontainebleau [a21(B2)Ala>Pro]: The second report from India
Ranjeet Singh Mashon1, Sona Nair, Pratibha Sawant
1Department of Hematopathology, Christian Medical College, Ludhiana, Punjab, India.
Indian Journal of Human Genetics
|December 17, 2013
Summary
A rare alpha globin gene variant, Hb Fontainebleau, was identified in a pregnant woman during hemoglobinopathy screening. This finding contributes to understanding alpha globin variants in India.
Area of Science:
- Hematology
- Genetics
- Molecular Biology
Background:
- Hemoglobin (Hb) variants arise from point mutations in globin genes, causing amino acid substitutions.
- Over 200 alpha chain variants have been documented, often identified through hemoglobinopathy screening.
- Community control programs facilitate screening of antenatal cases and prenatal diagnosis.
Observation:
- A rare alpha globin gene variant, Hb Fontainebleau [a21(B2)Ala>Pro], was detected in a 35-year-old pregnant woman.
- This variant was found in heterozygous condition during a community hemoglobinopathy screening program.
- This marks the second reported instance of Hb Fontainebleau in India.
Findings:
- The patient presented with a history of poor obstetric outcomes and secondary infertility.
- Previous reports in India noted Hb Fontainebleau in a neonate with Hb Sickle without clinical issues.
- The direct link between Hb Fontainebleau and the observed obstetric complications remains undetermined.
Implications:
- This case highlights the importance of comprehensive screening for hemoglobin variants in antenatal populations.
- Further research is needed to elucidate the clinical significance and potential associations of Hb Fontainebleau.
- Continued surveillance and genetic counseling are crucial for managing hemoglobinopathies in diverse populations.
Related Concept Videos
02:21Globular and Fibrous Proteins
34.0K
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...
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...
34.0K
02:21Globular and Fibrous Proteins
3.9K
3.9K
01:24Hemoglobin
8.8K
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...
When all four heme groups are bound to oxygen, the resulting molecule is called oxyhemoglobin. As a result, arterial blood...
8.8K
02:15Protein and Protein Structure
71.5K
Proteins are one of the most abundant organic molecules in living systems and have the most diverse range of functions of all macromolecules. Proteins may be structural, regulatory, contractile, or protective. They may serve in transport, storage, or membranes; or they may be toxins or enzymes. Their structures, like their functions, vary greatly. They are all, however, amino acid polymers arranged in a linear sequence.
A protein's shape is critical to its function. For example, an enzyme...
A protein's shape is critical to its function. For example, an enzyme...
71.5K
01:57Gene Families
8.0K
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...
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
8.0K
02:47Protein Families
13.3K
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...
13.3K