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Doctor insights on: Hemoglobin's A Disease

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What happens if a female is a carrier of allele for niemann-pick disease type a what is her genotype?

What happens if a female is a carrier of allele for niemann-pick disease type a what is her genotype?

Your genotype: depends on whether you are a carrier of Niemann-Pick Type A, B, C 1, C2, D, E or the rare F. Your OB-GYN will refer you for pre-pregnancy genetic counselling. Gather all medical history possible about your affected family members - onset & clinical presentation of symptoms, clinical course & lifespan. Your insurance will cover molecular genetic testing if you have a documented family history. ...Read more

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Is it common for a child with a lysosome storage disease (unspecified) to have a low white cell count?

Is it common for a child with a lysosome storage disease (unspecified) to have a low white cell count?

Possibly: To answer this question (and to determin the best plan of care for the child), it would be important to determine what type of lysosomal storage disease this child has. These diseases differ from each other in many ways, and may need to be treated differently. ...Read more

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Is it genetically possible for a parent with sickle cell disease to have a baby without sickle trait?

Is it genetically possible for a parent with sickle cell disease to have a baby without sickle trait?

Only using a donor: The offspring of someone with ss disease wil either have trait, or if the spouse has other issues could have trait plus whatever is contributed by the spouse. If the spouse has trait, ss or trait are the potential outcomes. If the baby has none of the genes of the ss parent (thru ivf etc.) they could escape the gene. ...Read more

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Is sickle recessive anemia a sex-linked disease?

Is sickle recessive anemia a sex-linked disease?

If you mean....: Is the beta globin gene transmitted on a sex chromosome (either x or y), the answer is no. The beta globin locus is autosomal, and classical sickle cell disease (hgbss disease) displays autosomal recessive inheritance. Boys and girls are equally likely to inherit the beta-s allele from an affected or carrier parent, and if they inherit a beta-s allele from each parent, they will have disease. ...Read more

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Is Alzheimer's disease a disease where genetic testing is recommended?

Is Alzheimer's disease a disease where genetic testing is recommended?

Offered .. sometimes: Alzheimer disease is a condition for which we have several genetic tests - apoe e4, app, psen1, & psen2. However, these tests are not used to establish the diagnosis of alzeimer disease. Instead we use them sometimes to help understand inheritance & risk, which is rather tricky. Extensive eduation & genetic counseling are very helpful, but the decision to test or not test should always be yours. ...Read more

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Is sle really a genetic disease?

Is sle really a genetic disease?

Somewhat genetic?: Sle (lupus) is an auto-immune disorder in which a person's immune system is reacting strongly against parts of his own body. The inflammation from the immune system reaction leads to symptoms. It is believed to be partly genetic (some people may be genetically more likely to get sle) and partly environmental (something happens in a person's life that sets off the auto-immune reaction). ...Read more

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What is von willebrand s disease and how serious?

What is von willebrand s disease and how serious?

A bleeding disorder.: It is the most common inherited bleeding disorder.Type 1 is mild , more symptomat in females with menorrhagia and mucous membrane bleeds DDAVP (desmopressin) , inhaler is effective. Type 3 severe , Joint bleeds in addition. Type 1 clotting protein is decreased but missing in type 3 and defective in type 2 ( several sub types). So the VW factor is to be given by infusion In most types 2 and 3 . ...Read more

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Is scoliosis a autoimmune disease?

Is scoliosis a autoimmune disease?

No: Scoliosis, or an abnormal curvature of the spine, is often congenital (you are born with it) but never autoimmune. ...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 hemophilia a terminal disease?

Is hemophilia a terminal disease?

NO: The HIV epidemic affected many hemophiliacs but those that survived through that time and those diagnosed after the HIV epidemic was fully realized have an opportunity to have their disease effectively managed. ...Read more

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What is a good activity for child with sickle cell disease?

What is a good activity for child with sickle cell disease?

Depends on the child: Children with scd should be as active as possible to promote good overall health including cardiovascular fitness and weight. Some children will need to restrict their activities if they have ongoing issues such as lung or heart disease or if certain activities serve as triggers for crises. One of the most important things is to maintain excellent hydration. Talk with your hematologist. ...Read more

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What kind of disease is leukemia? Is it a non-communicable disease?

What kind of disease is leukemia? Is it a non-communicable disease?

Its a Blood Cancer: It is not communicable. It begins in the bone marrow and mostly affects White blood cells(WBC). There are 4 different types of Leukemia which are often classified as Acute or Chronic. ...Read more

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What is hemoglobin e disease?

What is hemoglobin e disease?

Beta thal variant: This is a mild genetic illness that affects the ability of red blood cells to make hemoglobin. The allele responsible has its origin in southeast asia. A one-dose carrier has no problems; a two-dose carrier may be mildly anemic. ...Read more

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Is there a genetic test for hemolytic disease of the newborn?

Is there a genetic test for hemolytic disease of the newborn?

Yes: Hemolytic disease of the newborn, causing yellow skin and eyes (jaundice) with anemia, is most commonly due to a "set-up"--a blood type difference between mother and child. Blood types are caused by genes at the ABO and other loci (rhesus being most damaging), with o type or rh negative moms making antibodies to red blood cells of a or b or rh+ fetuses (if mom is o and fetus ab, baby switched), . ...Read more