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A 29-year-old male asked:

what is the definition or description of: jak2 mutation?

1 doctor answer1 doctor weighed in
Dr. David Rosenfeld
Pain Management 27 years experience
See below: The jak2 mutation is a genetic change found in about 9 out of 10 people with polycythemia vera (pv). Jak2 is part of a signaling system (like a thermostat) that helps tell the bone marrow when to start and stop making blood cells. Most people with pv have acquired a mutation(change) in their jak2. Because of this change, the bone marrow makes too many blood cells.

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A 44-year-old member asked:

Could hemophilia occur due to a mutation?

2 doctor answers7 doctors weighed in
Dr. Robert Kwok
Pediatrics 33 years experience
Yes, a gene mutation: Hemophilia "A" is a hereditary bleeding disorder where there is a deficiency in clotting factor VIII (factor VIII is needed for blood clotting). It is inherited on the X-chromosome (sex-linked). Men only have 1 "X", so if their "X" is mutated, they will have the disease. Women have 2 "X's", so they can have 1 mutated "X" and 1 normal "X", and be a carrier of the disease, with mild or no symptoms.
MD
A 29-year-old member asked:

I tested positive for harmful brca 2 mutation....So unsure what to do

3 doctor answers17 doctors weighed in
Dr. Barry Rosen
General Surgery 34 years experience
Genetic Counseling: Have you met with a genetic counselor? If not, i strongly recommend this. Testing brca-2 (+) puts you at an increased risk for breast and ovarian cancer (as well as ca of the stomach, pancreas, gallbladder, bile ducts, and melanoma). Options include surgical prophylaxis (mastectomy, oophorectomy), chemoprevention, and close surveillance. These decisions are best made with a professional.
Dr. Michael Zadeh
General Surgery 17 years experience
Agree with Dr. Rosen. This is one of the few situations in which I encourage prophylactic mastectomy. Not only should you be closely followed, but if you have any children you should also make sure they get tested for the mutation too.
Jan 14, 2012
Dr. Raymundo Romero
Medical Oncology 22 years experience
Very good advice. I encourage you to speak to all your relatives, they need to get checked too. Let's not forget the men, BRCA2 is associated with male breast cancer, prostate cancer and pancreatic cancer.
Jan 28, 2012
CA
A 25-year-old member asked:

A carcinogenic mutation is not inheritable. What could be the reason for this?

1 doctor answer5 doctors weighed in
Dr. Susan Wingo
Endocrinology 33 years experience
Location: Only mutations affecting the "germ line" - eggs in women, sperm-producing cells in men - can be passed on. Mutations caused by radiation or other carcinogens that occur in the thyroid, (or any tissue outside the ovary/testis), can not be inherited, regardless of whether the mutation occurs early in fetal/embryologic development or as an older adult.
A 30-year-old member asked:

What is it like to have angelman syndrome? Is it a new mutation in each case?

1 doctor answer2 doctors weighed in
Dr. Johanna Fricke
Developmental and Behavioral Pediatrics 50 years experience
Almost always NM: The challenges of angelman syndrome are seizures, microcephaly ( small head), characteristic facial features, intellectual disability with severe language impairment, unsteady gait, happy demeanor with frequent laughter, hyperactivity & more. In a few cases there's an alteration on mom's chromosome 15. Usually it's from a genetic accident. See www.Angelman.Org.
A 38-year-old member asked:

How do cell mutations happen in fetuses?

1 doctor answer1 doctor weighed in
Dr. Nikolaos Zacharias
Maternal-Fetal Medicine 26 years experience
At conception.: At conception the maternal egg or the paternal sperm cell may carry mutations that are passed on to the fetus.

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Last updated Aug 20, 2015

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