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Doctor insights on: Alpha Globin Common Mutation

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What are the common symptoms of alpha thalassemia?

What are the common symptoms of alpha thalassemia?

None to severe/fatal: Alpha thalassemia signs and symptoms: silent carriers have no signs/symptoms; Alpha trait has mild anemia; HGB h (moderate) may have weakness, pallor, less growth, and need some transfusions; bart's disease (severe) is usually fatal before birth. ...Read more

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Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more


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Alpha-1-antitrypsin quantitation - will it tell me if I have a hereditary problem?

Alpha-1-antitrypsin quantitation - will it tell me if I have a hereditary problem?

AAT deficiency: Measurement of alpha-1-antitrypsin serum concentration is used to determine if a patient has the inherited disorder aat deficiency. If the aat serum level is greater than 80 mg/dl, it is unlikely that the patient has clinically significant aat deficiency. ...Read more

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How do the alpha cells in the pancreas work?

How do the alpha cells in the pancreas work?

Secrete glucagon.: Alpha cells are endocrine cells in the islets of langerhans in the pancreas that secrete the hormone glucagon that elevates blood glucose. Glucagon binds to hepatocyte/liver cell receptors that cause the enzyme glycogen phosphorylase to hydrolyse glycogen to glucose, a process called glycogenolysis. ...Read more

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Why is toxic shock syndrome less common now?

Why is toxic shock syndrome less common now?

Toxic shock: it is probably related to better knowledge and education of the public about the subject ...Read more

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Why they say that it is dangerous to take beta blockers only and before alpha blockers in pheochromocytoma treatment? Is really life-threatening?

Why they say that it is dangerous to take beta blockers only and before alpha blockers in pheochromocytoma treatment? Is really life-threatening?

Yes, dangerous: Hi. Non-selective beta-blockers (e.g., propranolol) block beta-2 receptors, which mediate arterial relaxation. Pheos secrete epi and norepi, which activate alpha-1 and beta receptors. If you block vasodilatory beta-2's, then the arteries will see unopposed alpha-1 stimulation, which can cause a hypertensive crisis and stroke, death, etc. Block alpha-1 receptors first! ...Read more

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Why is it that alpha and beta -thalassemias result in more clinically severe diseases than other types of thalassemia?

Why is it that alpha and beta -thalassemias result in more clinically severe diseases than other types of thalassemia?

Used for blood cells: Alpha globulin (made by the Alpha genes) and beta globulin (made by the beta genes) are the 2 globulin molecules needed to make normal adult hemoglobin (the red stuff in normal red blood cells). Mutations that prevent Alpha and beta globulin production will cause severe symptoms, but other mutations may not be as noticeable if the proteins the other genes make are not as crucial to life. ...Read more

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Can one's DNA change during life? Does that mean that different cells in my body might currently have mutations from one another?

Can one's DNA change during life? Does that mean that different cells in my body might currently have mutations from one another?

DNA does not change: No. Cells can change; they can get damaged; they can be affected by their environment. But, the underlying DNA does not change or mutate. ...Read more

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Is a single mutation mthfr common in children with autism? If homocysteine levels are normal, should I be concerned?,

Is a single mutation mthfr common in children with autism?   If homocysteine levels are normal, should I be concerned?,

More research needed: The mutation mthfr has been implicated in a variety of psi strip illnesses from schizophrenia to down's syndrome. Homocysteine levels san be normal in autism. At this juncture no one has been able to find the cause of autism much more research is needed.Take mthfr with a grain of salt. There is absolutely no evidence that it can cause autism. ...Read more

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If both parents must have a mutation in their CF genes in order to create a child with cf, how common are carriers?

If both parents must have a mutation in their CF genes in order to create a child with cf, how common are carriers?

See below: Each time carrier parents have a child they have one chance in 4 of each passing the mutated gene and having a child with cf, two chances in 4 of each passing it from one parent (carriers) and one chance in 4 of a two normal gene healthy non carrier.This is classical mendelian inheritance but there may be more information now. Remember that it is a 4-sided "penny" that you toss each time! ...Read more

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