Hereditary spherocytosis causes: Difference between revisions
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{{Hereditary spherocytosis}} | {{Hereditary spherocytosis}} | ||
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==Causes== | ==Causes== | ||
[[Hereditary spherocytosis|HS]] is caused by a variety of [[mutations]] that lead to defects in [[Red blood cells|red blood cell (RBC)]] membrane proteins. HS usually is transmitted as an [[autosomal dominant]] trait, and the identification of the disorder in multiple [[Generation|generations]] of affected families is the rule. [[Homozygosity]] for this dominantly transmitted [[Hereditary spherocytosis|HS]] [[gene]] has not been identified, which suggests that the [[homozygous]] state is incompatible with life. | * [[Hereditary spherocytosis|HS]] is caused by a variety of [[mutations]] that lead to defects in [[Red blood cells|red blood cell (RBC)]] membrane proteins. HS usually is transmitted as an [[autosomal dominant]] trait, and the identification of the disorder in multiple [[Generation|generations]] of affected families is the rule. [[Homozygosity]] for this dominantly transmitted [[Hereditary spherocytosis|HS]] [[gene]] has not been identified, which suggests that the [[homozygous]] state is incompatible with life. | ||
Twenty-five percent of all newly diagnosed patients do not demonstrate a [[dominant]] inheritance pattern. Parents of these patients do not have clinical or hematologic abnormalities. Some of these sporadic cases may result from new [[mutations]]. | * Twenty-five percent of all newly diagnosed patients do not demonstrate a [[dominant]] inheritance pattern. Parents of these patients do not have clinical or hematologic abnormalities. Some of these sporadic cases may result from new [[mutations]]. | ||
An [[autosomal recessive]] mode of inheritance also occurs, as indicated by descriptions of families in which apparently healthy parents have had more than one affected child. [[Recessive]] inheritance may account for 20-25% of all [[Hereditary spherocytosis|HS]] cases. It manifests only in individuals who are [[homozygous]] or compound [[heterozygous]] and often is associated with severe [[hemolytic anemia]]. | * An [[autosomal recessive]] mode of inheritance also occurs, as indicated by descriptions of families in which apparently healthy parents have had more than one affected child. [[Recessive]] inheritance may account for 20-25% of all [[Hereditary spherocytosis|HS]] cases. It manifests only in individuals who are [[homozygous]] or compound [[heterozygous]] and often is associated with severe [[hemolytic anemia]]. | ||
==References== | ==References== | ||
Revision as of 05:23, 1 August 2018
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Overview
Causes
- HS is caused by a variety of mutations that lead to defects in red blood cell (RBC) membrane proteins. HS usually is transmitted as an autosomal dominant trait, and the identification of the disorder in multiple generations of affected families is the rule. Homozygosity for this dominantly transmitted HS gene has not been identified, which suggests that the homozygous state is incompatible with life.
- Twenty-five percent of all newly diagnosed patients do not demonstrate a dominant inheritance pattern. Parents of these patients do not have clinical or hematologic abnormalities. Some of these sporadic cases may result from new mutations.
- An autosomal recessive mode of inheritance also occurs, as indicated by descriptions of families in which apparently healthy parents have had more than one affected child. Recessive inheritance may account for 20-25% of all HS cases. It manifests only in individuals who are homozygous or compound heterozygous and often is associated with severe hemolytic anemia.