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Doctor insights on: Congenital Spherocytosis

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Hereditary spherocytosis treatment?

Hereditary spherocytosis treatment?

Supportive care: There is no cure for hereditary spherocytosis (hs) and treatment is supportive. Blood transfusions are sometimes required. Folic acid supplementation can be helpful. Hs patients frequently develop gallstones and the gallbladder sometimes needs to be removed. Lastly, the removal of the spleen can be quite helpful for certain patients, but the risks and benefits of doing this need to be discussed. ...Read more

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Are congenital heart defects hereditary?

Are congenital heart defects hereditary?

Depends on variables: There are a few syndromes with high frequency of specific heart defects that can have inheritance risk up to 50%. Most, however, are part of a complex inheritance pattern with around 5% risk.This 5% would include any pattern of congenital heart defect, not necessarily the same one. ...Read more

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What chromosome is congenital melanocytic nevi syndrome?

What chromosome is congenital melanocytic nevi syndrome?

No specific link: The congenital melanocytic nevus syndrome is considered sporadic in its occurrence.A few available studies of biopsy material have found abnormalities on the 1st, 12th or 19 th chromosome but no consistent pattern is reported.See the recent article : www.Ncbi.Nlm.Nih.Gov/pmc/articles/pmc2994429. ...Read more

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Is sickle cell anemia hereditary?

Is sickle cell anemia hereditary?

Yes.: it is an autosomal recessive disorder, meaning that both parents must be carriers of the mutation. If they are, the chance of each child being affected is 1 in 4. ...Read more

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Is autoimmune hemolytic anemia hereditary?

Is autoimmune hemolytic anemia hereditary?

No: It can be due to an underlying autoimmune disorder, such as lupus or rheumatoid arthritis. In this case, the underlying autoimmune disorder may be hereditary; but the autoimmune hemolytic anemia is not hereditary. It is simply the manifestation of the underlying disorder. There are also several causes of autoimmune hemolytic anemia that are not inherited. ...Read more

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Is congenital heart disease genetic?

Is congenital heart disease genetic?

Some of it: Even though 8 out of every 1000 babies born will have have some form of heart defect, when there is a first line family member affected the number goes up to about 16-30/1000 (for some particular defects this number will be higher) so this would suggest a genetic component...We just haven't learned enough about genetics and the heart to be more precise, but this is changing every day. ...Read more

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Is hypertrophic cardiomyopathy hereditary? Sex-linked or recessive?

Is hypertrophic cardiomyopathy hereditary? Sex-linked or recessive?

Yes: Hypertrophic cardiomyopathy is almost always hereditary, being an autosomal dominant condition. It commonly runs in families, thus the importance of evaluating everyone in the immediate family (siblings or children) with echocardiography since hypertrophic cardiomyopathy is a potentially fatal condition, particularly in young people and young athletes. Detection is the key to saving a life. ...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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Are congenital abnormalities genetic?

Are  congenital abnormalities genetic?

Sometimes.: Although it's true that most congenital anomalies (duodenal atresia, ventricular septal defect) have some (currently known or unknown) genetic underpinning, some clearly do not (amniotic band deformation sequence, hydranencephaly, gastroschisis, porencephaly) and some are due to teratogenic exposures unrelated to genetic information (valproic acid, paroxetine, coumadin, (warfarin) enalapril, alcohol). ...Read more

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Is megaloblastic anemia an inherited condition?

Not commonly: Most cases of this condition reflect deficiencies of key vitamins (b12, folic acid) and occur due to dietary deficiencies, pregnancy, pernicious anemia, medications. Rare inherited forms can occur in which the carrier proteins for B12 may be low for example. ...Read more

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What genetic syndromes associated with congenital hydronephrosis ?

What genetic syndromes associated with congenital hydronephrosis ?

Genetics : There are many causes of hydronephrosis. Often hydronephrosis is found on prenatal ultrasounds but is not seen on postnatal ultrasounds. Any kidney or bladder malformation can cause hydronephrosis. In infants, posterior urethral valves, kidney stones, cystic kidneys, abdminal masses or any stenosis of the urethra or ureters may cause hydronephrosis. ...Read more

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Is sickle-cell anemia a recessive, sex-linked trait?

Is sickle-cell anemia a recessive, sex-linked trait?

Yes and no: Sickle cell disease is recessive; you need to inherit a sickle gene from both parents to get the disease. It is not x-linked, however; if it were it would affect only boys. Boys and girls are equally affected by sickle cell disease. ...Read more

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Is mitral stenosis inherited?

Is mitral stenosis inherited?

Mitral stenosis: Usually from rheumatic fever and not inherited. ...Read more

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Are developmental, familial and congenital anomalies different?

Are developmental, familial and congenital anomalies different?

Not really: Developmental = failure to meet developmental milestones such as sitting up, walking etc. This may be aquired from e.g. Birth injury. Familial means that it is a trait within a family, presumably genetic. Congenital is "accidental" with no known cause. ...Read more

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Are congenital heart defects considered types of mitochondrial diseases?

Are congenital heart defects considered types of mitochondrial diseases?

Nope.: Most congenital heart defects can be prevented with Folic Acid preconceptionally and have nothing to do with mitochondrial disorders. ...Read more

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Who has congenital adrenal hyperplasia?

Who has congenital adrenal hyperplasia?

Enzyme deficiency: Deficiency of 21 hydroxylase enzyme needed for synthesis of gluco- and mineralo-corticoids causes excessive production of sex hormones, mainly male sex hormones. The result is endocrine disturbance in both boys and girls and virilization in girls. ...Read more