Hereditary spherocytosis primary prevention: Difference between revisions

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==Overview==
==Overview==
'''Prenatal testing, family testing, and genetic counseling''' —
There is no [[primary prevention]] available for the [[hereditary spherocytosis]].
* For young patients with HS, we obtain a full family history and obtain a CBC, reticulocyte count, and examination of the peripheral blood smear on each parent and sibling in order to determine whether the spherocytic mutation is dominant or recessive. Appropriate counseling can be performed once this information has been obtained. It is especially important to test a newborn sibling for HS, as this may be associated with severe degrees of hyperbilirubinemia and anemia during this period.
 
* For individuals of childbearing age with HS, review of the familial mutation and its mode of transmission (autosomal dominant or recessive) may be useful for informing discussions of the likelihood of HS in children. If the familial mutation is known to act in an autosomal dominant fashion, it is important to make this information clear in the prenatal record and to make the information available to the pediatrician before delivery [83]. Some individuals who had HS as a child and were treated with splenectomy may have forgotten about the condition or may not realize the implications for their child.
 
* It is also important to test newborns of affected parents for HS, as affected newborns may have severe hyperbilirubinemia and anemia. This may be done by a clinician with expertise in hemolytic anemias or by a genetic counselor. It is possible for an individual with no hemolysis, no spherocytes on the blood smear, and a normal reticulocyte count to be a carrier of HS, which may be relevant in certain families


==Primary Prevention==
==Primary Prevention==
* There is no [[primary prevention]] available for the [[hereditary spherocytosis]].


==References==
==References==

Latest revision as of 04:00, 19 December 2018

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:

Overview

There is no primary prevention available for the hereditary spherocytosis.

Primary Prevention

References

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