Doctor insights on:
Hemoglobin's A Disease
What is the hemoglobin range of thalassemia disease or trait? Up to when consider is it trait or disease?
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
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 moreSee 1 more doctor answer
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
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
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
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 moreSee 1 more doctor answer
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
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
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 moreSee 2 more doctor answers
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
Functional v genetic: It is only minimally a genetic issue, based on blood group type which is readily found by decades old tests. The primary HDN is related to Rh factor & seen if mom is Rh neg while dad is Rh pos & easily detected & avoided when properly managed. No other Rh pairing causes a problem. ABO blood group incompatibility produces minor HDN is some cases which is easy to manage. ...Read moreSee 2 more doctor answers
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