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Showing posts with the label Rare Diseases

How Genetic Mutations Shape Your Health and Future

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  Introduction: The Code of Life and Its Twists - Every living organism carries a unique blueprint—its DNA. This intricate code dictates everything from eye color to how our cells function. But what happens when this code changes unexpectedly? Enter genetic mutations, the subtle or dramatic shifts in our DNA that can shape life in profound ways. From driving evolution to causing diseases, mutations are both a natural phenomenon and a topic of fascination in science. In this article, we’ll dive deep into what genetic mutations are, their causes, types, and their far-reaching impacts on health, evolution, and even modern medicine. Whether you’re a science enthusiast or just curious about the building blocks of life, this exploration will shed light on the power and mystery of mutations. What Are Genetic Mutations? At its core, a genetic mutation is a change in the sequence of nucleotides—the building blocks of DNA or RNA. These changes can occur in a single gene, a chromosome, ...

Hemophilia: A Comprehensive Guide to Understanding the Condition

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  *Introduction - Hemophilia is a rare, lifelong bleeding disorder characterized by the deficiency or dysfunction of specific blood clotting proteins known as coagulation factors. The most common forms are hemophilia A (factor VIII deficiency) and hemophilia B (factor IX deficiency), both inherited in an X-linked recessive pattern. A much rarer form, hemophilia C, arises from factor XI deficiency and exhibits autosomal inheritance. The hallmark of hemophilia is prolonged bleeding, which may occur spontaneously or following minor trauma, leading to joint damage, muscle hematomas, and potentially life-threatening hemorrhages. Advances in diagnosis, factor replacement therapies, non-factor agents, and gene therapy have transformed patient outcomes over the past several decades. Classification and Types ·          Hemophilia A (classic hemophilia): Deficiency of factor VIII, accounting for approximately 80–85% of all hemophilia cases. Prev...