Top Bloom syndrome Doctors in India

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Frequently Asked Questions

Bloom syndrome is a rare, autosomal recessive genetic disorder characterized by genomic instability. It may be caused by mutations in the BLM gene, which encodes the DNA helicase protein, Bloom syndrome protein (BLM).

Bloom syndrome is extremely rare, with an estimated incidence of 1 in 48,000 to 1 in 1,000,000 individuals, depending on the population studied.

Key clinical features include short stature, sun-sensitive skin, a high-pitched voice, and an increased risk of cancer, particularly leukaemia and solid tumours.

BLM protein plays a crucial role in DNA repair and recombination. Mutations in the BLM gene result in impaired DNA repair, causing an accumulation of genetic mutations and chromosomal abnormalities.

Yes, diagnosis is typically confirmed by genetic testing, which helps identify mutations in the BLM gene.

No, Bloom syndrome is autosomal recessive, meaning both parents must carry a mutation in the BLM gene for their child to have the disorder.

Yes, prenatal testing, such as chorionic villus sampling or amniocentesis, can be performed if there is a known family history of Bloom syndrome.

People with Bloom syndrome are at an increased risk of developing cancer, including leukaemia and solid tumours, often at a young age.

There is no cure for Bloom syndrome. Management includes regular cancer screenings and addressing specific medical issues as they arise.

Yes, individuals with Bloom syndrome can have children, but they have an increased risk of passing the BLM gene mutation to their offspring.

Research into potential treatments is ongoing, but there are currently no approved therapies specifically for Bloom syndrome.

No, Bloom syndrome is not typically detected through newborn screening programs, as it is a rare genetic disorder.

Yes, several support groups and organizations exist to provide information and support to individuals and families affected by Bloom syndrome.

Life expectancy can vary, but individuals with Bloom syndrome typically have a shortened lifespan due to an increased predisposition to cancer and other health complications.

Genetic counselling and testing help identify carriers of BLM gene mutations, allowing for informed family planning decisions.

BLM protein functions as a DNA helicase, unwinding DNA structures to facilitate repair and recombination processes.

BLM gene mutations are primarily associated with Bloom syndrome, but they can also contribute to milder forms of genomic instability.

Sun protection measures, like using appropriate sunscreens and wearing protective clothing are essential for managing sun sensitivity in individuals with Bloom syndrome.

Yes, carrier testing can identify individuals who carry a single mutated BLM gene, which may be relevant for family planning decisions.

Reviewed By Dr Hemlata Wadhwani, Senior Consultant – Medical Genetics Foetal Medicine, Molecular Oncology & Cancer Genetics on 12 June 2024

Top Bloom syndrome Doctors in India

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Dr. Ekta Kalra

Dr. Arun Kumar

Dr. Deepak Kumar

Dr Amit Kumar

Dr. Tushar Maniar

Dr. Sameer Maqsood

Dr. Rujuta Mehta

Dr Jashan Mittal

Dr. Varun Ramesh

Dr. Puja Sabherwal

Dr. Abhishek Sachdeva

Dr. Jagruti Sanghvi

Dr. Manpreet Sethi

Dr. Rajesh Sharma

Dr. Tejal Shetty

Dr. Pankaj R. Shroff

Dr. Bijender Singh

Dr Ashok Kumar Singh(Pediatrics)

Dr. Anand Singh

Dr. Sabina Vij

Dr. Avinash Walawalkar

Dr. Mamta Agarwal

Dr. Navin Bhatia

Dr. Gaurav Garg

Dr. Lalit Gulati

Dr. Farha Khan

Dr. Bhavya Kukreja

Dr. Naresh Lal

Dr. Swati Kanodia

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