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'''For patient information click [[Hereditary spherocytosis (patient information)|here]]'''
__NOTOC__
 
{{DiseaseDisorder infobox |
{{DiseaseDisorder infobox |
   Name        = Hereditary spherocytosis |
   Name        = Hereditary spherocytosis |
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   MedlinePlus = 000530 |  
   MedlinePlus = 000530 |  
}}
}}
{{SI}}
{{Hereditary spherocytosis}}
{{CMG}}
 
'''For patient information click [[Hereditary spherocytosis (patient information)|here]]'''
 
{{CMG}}; {{AE}} {{ZAS}}
 
==[[Hereditary spherocytosis overview|Overview]]==
 
== [[hereditary spherocytosis historical perspective|Historical Perspective]] ==
 
== [[hereditary spherocytosis classification|Classification]] ==
 
== [[hereditary spherocytosis pathophysiology|Pathophysiology]] ==
 
== [[hereditary spherocytosis causes|Causes]] ==
 
== [[Hereditary spherocytosis differential diagnosis|Differentiating Hereditary Spherocytosis from Other Diseases]] ==
 
== [[hereditary spherocytosis epidemiology and demographics|Epidemiology and Demographics]] ==
 
== [[hereditary spherocytosis risk factors|Risk Factors]] ==
 
== [[hereditary spherocytosis screening|Screening]] ==
 
== [[hereditary spherocytosis natural history, complications and prognosis|Natural History, Complications, and Prognosis]] ==


{{Editor Help}}
== [[hereditary spherocytosis diagnostic study of choice|Diagnosis]] ==


==Overview==
== [[Hereditary spherocytosis history and symptoms|History and Symptoms]] ==
'''Hereditary spherocytosis''' is a genetically-transmitted form of [[spherocytosis]], an auto-[[hemolysis|hemolytic]] [[anemia]] characterized by the production of red blood cells that are sphere-shaped rather than donut-shaped, and therefore more prone to [[hemolysis]].


==Prevalence==
== [[hereditary spherocytosis physical examination|Physical Examination]] ==
It is the most common (1 in 5,000 of Northern European ancestry) disorder of the red cell membrane.


==Pathophysiology==
== [[hereditary spherocytosis laboratory findings|Laboratory Findings]] ==
Hereditary spherocytosis is an [[autosomal dominant]] trait, most commonly (though not exclusively) found in Northern European and Japanese families, although an estimated 25% of cases are due to spontaneous [[mutation]]s.  A patient has a 50% chance of passing the disorder onto his/her offspring, presuming that his/her partner does not also carry the mutation.


Hereditary spherocytosis is caused by a variety of molecular defects in the genes that code for [[spectrin]], [[ankyrin]], [[protein 4.1]], and other erythrocyte membrane proteins. These proteins are necessary to maintain the normal shape of an erythrocyte, which is a biconcave disk.  The protein that is most commonly defective is [[ankyrin]]. As the spleen normally targets abnormally shaped red cells (which are typically older), it also destroys spherocytes.
== [[hereditary spherocytosis chest x ray|Chest X ray]] ==


==[[Spherocytosis#Symptoms|Symptoms]]==
== [[hereditary spherocytosis CT|CT]] ==


As in [[spherocytosis|non-hereditary spherocytosis]], the [[spleen]]'s [[hemolysis]] results in observational symptoms of [[Fatigue (physical)|fatigue]], [[pallor]], and [[jaundice]].
== [[hereditary spherocytosis MRI|MRI]] ==


==[[Spherocytosis#Diagnosis|Diagnosis]]==
== [[hereditary spherocytosis echocardiography or ultrasound| Echocardiography or Ultrasound]] ==


In a [[peripheral blood smear]], the abnormally small [[red blood cell]]s lacking the central pallor as seen in [[spherocytosis|non-hereditary spherocytosis]] is typically more marked in hereditary spherocytosis.
== [[hereditary spherocytosis other imaging findings|Other Imaging Findings]] ==


Other protein deficiencies cause [[hereditary elliptocytosis]], [[pyropoikilocytosis]] or [[stomatocytosis]].
== [[hereditary spherocytosis other diagnostic studies|Other Diagnostic Studies]] ==


In longstanding cases and in patients who have taken [[iron]] supplementation or received numerous [[blood transfusion]]s, [[iron overload]] may be a significant problem, being a potential cause of [[cardiomyopathy]] and [[liver disease]]. Measuring iron stores is therefore considered part of the diagnostic approach to hereditary spherocytosis.
== [[hereditary spherocytosis medical therapy|Treatment]] ==


==[[Spherocytosis#Treatment|Treatment]]==
== [[hereditary spherocytosis medical therapy|Medical Therapy]] ==
As in [[spherocytosis|non-hereditary spherocytosis]], acute symptoms of [[anemia]] and hyperbilirubinemia indicate treatment with [[blood transfusion]]s or exchanges and chronic symptoms of [[anemia]] and [[splenomegaly]] indicate dietary supplementation of [[iron]] and [[splenectomy]], the surgical removal of the [[spleen]].


Experimental [[gene therapy]] exists to treat hereditary spherocytosis in lab mice; however, this treatment has not yet been tried on humans and because of the risks involved in human gene therapy, it may never be.
== [[hereditary spherocytosis surgery|Surgery]] ==


==See also==
==[[hereditary spherocytosis primary prevention|Primary Prevention]] ==
 
== [[hereditary spherocytosis secondary prevention|Secondary Prevention]]==
 
== [[hereditary spherocytosis cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] ==
 
== [[hereditary spherocytosis future or investigational therapies|Future or Investigational Therapies]] ==
 
== [[Hereditary spherocytosis case study one|Case Studies]] ==
[[Hereditary spherocytosis case study one|Case #1]]
 
==Related Chapters==
{{otheruses4|aspects of spherocytosis specific to the hereditary form of the disorder|details that apply generally to this variant as well as others|Spherocytosis}}
{{otheruses4|aspects of spherocytosis specific to the hereditary form of the disorder|details that apply generally to this variant as well as others|Spherocytosis}}


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*[http://www.nlm.nih.gov/medlineplus/ency/imagepages/1220.htm A picture of spherocytes from Medline]
*[http://www.nlm.nih.gov/medlineplus/ency/imagepages/1220.htm A picture of spherocytes from Medline]


{{Hematology}}
==References==
{{SIB}}
{{Reflist|2}}
 
 
[[es:Esferocitosis hereditaria]]
[[es:Esferocitosis hereditaria]]
[[he:ספרוציטוזיס תורשתי]]
[[he:ספרוציטוזיס תורשתי]]

Latest revision as of 20:28, 10 December 2018

Template:DiseaseDisorder infobox

Hereditary spherocytosis Microchapters

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Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Hereditary spherocytosis from other Diseases

Epidemiology and Demographics

Risk Factors

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Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

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Physical Examination

Laboratory Findings

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Chest X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

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Case #1

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Zahir Ali Shaikh, MD[2]

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Hereditary Spherocytosis from Other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Chest X ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Related Chapters

Template:Otheruses4

External links

References

he:ספרוציטוזיס תורשתי sr:Сфероцитоза

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