Prelims – Current events of national and international importance | Health
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Recently, a 12-year-old girl with Bloom Syndrome underwent a bone marrow transplant (BMT) using stem cells from her younger brother at a private hospital in Chennai.
- It is a rare genetic disorder, characterised by short stature and blood-related complications, and carries a risk of blood cancers such as acute myeloid leukemia.
- People with Bloom syndrome are usually smaller than 97% of the population in both height and weight from birth, and they rarely exceed 5 feet tall in adulthood.
- Causes - Bloom Syndrome is an autosomal recessive genetic disorder, meaning a person must inherit 2 copies of the mutated BLM gene, one from each parent.
- The BLM gene provides instructions for making a protein called a RecQ helicase, which is crucial for DNA stability.
- Mutations in the BLM gene lead to a non-functional BLM protein, resulting in genomic instability and a high number of chromosomal breaks.
- Symptoms
- Growth Deficiency - Individuals typically experience severe growth delays both before and after birth.
- Photosensitive Skin - A characteristic butterfly-shaped rash develops on the face after sun exposure, along with telangiectases (small, enlarged blood vessels) and other skin changes.
- Increased Cancer Risk - There is a greatly increased risk of developing many types of cancer, often at an early age.
- Immune Deficiencies - People with Bloom Syndrome may have immune system issues, making them more vulnerable to infections.
- Other Complications - These can include insulin resistance, an increased risk for diabetes, and chronic obstructive pulmonary disease.
- No Cure - There is currently no treatment that targets the underlying genetic cause of the disorder.
- Recent case - The girl had
- Monosomy 7, a chromosomal abnormality involving the loss of one copy of chromosome 7, and
- Myelodysplastic Syndrome (MDS), a disorder in which the bone marrow fails to produce healthy blood cells.
- There is a risk of MDS progressing to leukemia.
- She underwent bone marrow transplant (BMT) using stem cells from her younger brother.
Reference
The Hindu | Bloom Syndrome
