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Related Concept Videos

Hemoglobin01:24

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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.
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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...
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Blood Typing01:10

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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.
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Lethal Alleles02:41

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Agouti: A Lethal Allele
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DNA Fingerprinting of Mycobacterium leprae Strains Using Variable Number Tandem Repeat VNTR - Fragment Length Analysis FLA
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Hemoglobin Lepore Boston in a Turkish Family.

M Yağcı, Z N Özkurt, G Türköz Sucak

    Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology
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    A Balkan Turkish family study identified Hemoglobin Lepore-Boston, an abnormal hemoglobin, in asymptomatic carriers. Molecular analysis confirmed this finding, revealing heterozygote states similar to beta-thalassemia trait.

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    Area of Science:

    • Hematology
    • Medical Genetics
    • Molecular Biology

    Background:

    • Abnormal hemoglobins can cause various hematological disorders.
    • Beta-thalassemia trait presents with specific erythrocyte morphology.
    • Genetic screening is crucial for identifying hemoglobinopathies in immigrant populations.

    Purpose of the Study:

    • To identify and characterize an abnormal hemoglobin variant in a Turkish family.
    • To investigate the genetic basis of an observed hematological anomaly.
    • To assess the clinical significance of the identified hemoglobin variant.

    Main Methods:

    • Erythrocyte morphology examination.
    • Molecular genetic analysis for hemoglobin variant identification.
    • Family-based genetic screening.

    Main Results:

    • Detection of an abnormal hemoglobin, identified as Hemoglobin Lepore-Boston.
    • Affected family members were heterozygous for Hemoglobin Lepore-Boston.
    • Erythrocyte morphology mimicked that of beta-thalassemia trait.
    • All carriers were clinically asymptomatic.

    Conclusions:

    • Hemoglobin Lepore-Boston is present in a heterozygous, asymptomatic state in this Turkish family.
    • The condition can be mistaken for beta-thalassemia trait based on morphology alone.
    • Molecular analysis is essential for accurate diagnosis of hemoglobin variants.