A 12-year-old girl with Bloom Syndrome recently underwent a bone marrow transplant using stem cells from her younger brother at a private hospital in Chennai.
This treatment aims to address some of the complications associated with the disorder.
Definition: A rare genetic disorder caused by mutations in the BLM gene, which codes for a protein crucial for DNA structure maintenance and repair.
Impact of Mutation: The defective BLM gene results in impaired DNA repair, causing abnormal cell growth and increased vulnerability to infections and cancers.
Inheritance Pattern: Autosomal recessive — the disorder manifests only when a child inherits two mutated copies of the BLM gene, one from each parent.
Prevalence: More common among the Eastern European (Ashkenazi) Jewish population.
Growth Delay: Poor fetal and postnatal growth, below-average height and head size.
Physical Features: Narrowing of the head and face, prominent ears and nose, long limbs, and high-pitched voice.
Skin Issues: Sun sensitivity causing red rashes (photosensitivity).
Metabolic Problems: Insulin resistance leading to diabetes risk.
Immune Deficiency: Greater susceptibility to infections (ear, lung infections, COPD).
Reproductive Issues: Male sterility and female infertility in adults.
Cancer Risk: Increased risk of developing various cancers at a young age.
There is no specific cure for Bloom Syndrome.
Management involves a multi-disciplinary approach focusing on symptom relief and prevention of complications like infections and cancers.
Recent advances like bone marrow transplantation are being explored to improve patient outcomes.
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We provide offline, online and recorded lectures in the same amount.
Every aspirant is unique and the mentoring is customised according to the strengths and weaknesses of the aspirant.
In every Lecture. Director Sir will provide conceptual understanding with around 800 Mindmaps.
We provide you the best and Comprehensive content which comes directly or indirectly in UPSC Exam.
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