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Doctor insights on: Alpha Globin Gene Del Or Dup

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Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


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Is the beta-thalassemia gene recessive or dominant?

Is the beta-thalassemia gene recessive or dominant?

Neither: People normally have 2 beta globulin genes. A mutation in one or both genes leads to 3 levels of beta thalassemia. The genetics of the disorder is not all-or-none nor dominant-recessive. Instead, more or worse mutations causes worse disease. One mutation = beta thal trait (mild symptoms), 2 mutations = beta thal intermedia (transfusions sometimes) or beta thal major (lifelong transfusions needed). ...Read more

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Does alpha thalassemia trait have gene therapy available?

Does alpha thalassemia trait have gene therapy available?

No: Alpha thalassemia trait only causes mild anemia, and the person usually has no symptoms. Gene therapy is not available and would not be needed. ...Read more

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Cause of a positive monoclonal T cell beta gene rearrangement?

Cause of a positive monoclonal T cell beta gene rearrangement?

Tumor: Monoclonal proliferation of lymphoid cells is usually an indication of tumor of the lymphoid tissue. ...Read more

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Cystic fibrosis disease is carried by a recessive allele on which gene?

Cystic fibrosis disease is carried by a recessive allele on which gene?

CFTR: Cystic fibrosis is caused by a mutation of the cftr gene, or cystic fibrosis transmembrane regulator, on chromosome 7. Cftr works as a chloride ion channel which helps to regulate chloride and sodium movement in your lungs and sweat ducts. ...Read more

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Is sickle cell dominant or recessive in its inheritance?

Is sickle cell dominant or recessive in its inheritance?

Recessive: Sickle cell is autosomal recessive which means both parents must have a copy of the defective allele (one or both can be carriers but exhibit no symptoms). ...Read more

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Is hb e beta thalassemia cureble? Is it a trait or disease?

Is hb e beta thalassemia cureble? Is it a trait or disease?

Genetic disorder: http://www.ncbi.nlm.nih.gov/pmc/articles/pmc3237252/ "the disorder is characterized by marked clinical variability, ranging from a mild and asymptomatic anaemia to a life-threatening disorder requiring transfusions from infancy. "...."careful tailoring of treatment is required for each patient, and that therapeutic approaches should be re-assessed over-time." not curable..Look at website-. ...Read more

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Is adrenoleukodystrophy chromosome problem?....If so, which one?

Is adrenoleukodystrophy chromosome problem?....If so, which one?

Yes: Adrenoleukodystrophy is passed down from parents to their children as an x-linked genetic trait. It therefore affects mostly males, although some women who are carriers can have milder forms of the disease. It affects approximately 1 in 20, 000 people from all races. ...Read more

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Is elephantiasis a gene or chromosomal mutation? Please advise!

Is elephantiasis a gene or chromosomal mutation? Please advise!

Elephantiasis : Elephantiasis is caused by infection with the filarial worm, which is transmitted to humans by mosquitos. It lives in the human lymphatic system. It is not a gene or chromosomal mutation. ...Read more

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Please help? Is the disease gigantism a dominant or recessive gene?

Please help? Is the disease gigantism a dominant or recessive gene?

Neither: Pituitary gigantism results from a pituitary adenoma, an acquired tumor. There are a few dozen genetic syndromes in which a person may be extra-tall; common Marfan's is a dominant; there's a dominant family syndrome in which people are prone to get pituitary gigantism; there's at least one rare autosomal recessive with gigantism with multiple birth defects. ...Read more

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Atypical hus/ttp syndrome with beta thalesemic carrier state...What does this mean?

Atypical hus/ttp syndrome with beta thalesemic carrier state...What does this mean?

Blood diseases: Hemolytic-uremic syndrome/ thrombotic thrombocytopenic purpura is a adquired blood disease where the small blood vessels makes the plateles to be activated and damaging the red blood cells and thus, decreasing their numbers. This produces a myriad of symptoms, from kidney to CNS problems. Beta thalassemia is a genetic blood disease that produces anemia. ...Read more

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What chromosome is mutated in sickle cell disease?

What chromosome is mutated in sickle cell disease?

11: The beta globin gene is mutated in sickle cell anemia; it is located on chromosome 11. ...Read more

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What is hemagglutinin (ha) gene and neuraminidase (na) gene?

What is hemagglutinin (ha) gene and neuraminidase (na) gene?

Flu virus genes: The hemaglutinin and neuraminidase genes are in influenza viruses. They code for proteins that are found on the surface of the flu virus. The viruses are named according to which type of hemaglutinin and neuraminidase proteins are on their surfaces (for example: h1n1 or h7n9). ...Read more

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Is williams syndrome a gene or chromosomal mutation ?

Microdeletion: Williams syndrome is caused by small loss (deletion) of genetic material from long arm of chromosome number 7. ...Read more

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How to differentiate between alpha thalassaemia trait and hb h disease without a genetic test?

How to differentiate between alpha thalassaemia trait and hb h disease without a genetic test?

Electrophoresis, but: Levels of hemoglobin h and hemoglobin barts should make the distinction straightforward though there may be modifying genes that could make interpretation. The real question is the implications in planning your family and for this perhaps you would like to have genetic testing done. Any hematologist would probably enjoy helping you out. Good luck. ...Read more

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Can alpha thalassemia be dominant?

Not quite: People normally have 4 Alpha globulin genes. A mutation in 1, 2, 3, or all 4 genes leads to the 4 levels of Alpha thalassemia. The genetics of the disorder is not all-or-none, not dominant-recessive. Instead, the more mutations, the worse the disease. One mutation = silent carrier (no symptoms), 2 muta. = Alpha trait (mild symptoms), 3 muta. = HGB h (moderate symptoms), 4 muta. = bart's (deaths). ...Read more

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Gene (Definition)

A hereditary unit consisting of a sequence of dna that occupies a specific location on a chromosome and determines a particular characteristic in an organism. Genes undergo mutation when their ...Read more


Dna (Definition)

Dna are the coding molecules found in all living things on earth which contain the instructions on how to build living things. Its is comprised the nucleotide molecules which are ...Read more