Bloom Syndrome:

Latest News

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.

About Bloom Syndrome (BSyn)

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.

Causes & Inheritance

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.

Symptoms

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.

Treatment

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.

Source: THE HINDU

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