Sickle-cell disease classification scheme: Difference between revisions
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==Overview== | ==Overview== | ||
Several other forms of sickle syndrome occur as a result of inheriting one sickle cell gene from one parent and another [[hemoglobinopathy]] from another parent. However, the sickle cell anemia is [[autosomal recessive]]. | |||
==Classification== | ==Classification== | ||
"Sickle-cell anemia" is the name of a specific form of sickle-cell disease in which there is [[homozygote|homozygosity]] for the [[genetic mutation|mutation]] that causes Hgb S. Other forms of sickle-cell disease include: | "Sickle-cell anemia" is the name of a specific form of sickle-cell disease in which there is [[homozygote|homozygosity]] for the [[genetic mutation|mutation]] that causes Hgb S. Other forms of sickle-cell disease include: | ||
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* Sickle beta-plus-[[thalassaemia]] | * Sickle beta-plus-[[thalassaemia]] | ||
* Sickle beta-zero-thalassaemia | * Sickle beta-zero-thalassaemia | ||
The term "disease" is applied here since the inherited abnormality causes a pathological condition that can lead to death and severe complications. Not all inherited variants of [[hemoglobin]] are detrimental, a concept known as [[genetic polymorphisms]]. [[Hemoglobin]] is one of the best-characterized proteins in terms of inherited variants; some variants manifest as severe [[thalassaemia]], such as beta-zero-[[thalassaemia]], and other variants manifest as a milder [[thalassaemia]], such as beta-plus-[[thalassaemia]]. | The term "disease" is applied here since the inherited abnormality causes a pathological condition that can lead to death and severe complications. Not all inherited variants of [[hemoglobin]] are detrimental, a concept known as [[genetic polymorphisms]]. [[Hemoglobin]] is one of the best-characterized proteins in terms of inherited variants; some variants manifest as severe [[thalassaemia]], such as beta-zero-[[thalassaemia]], and other variants manifest as a milder [[thalassaemia]], such as beta-plus-[[thalassaemia]]. | ||
Revision as of 20:32, 20 August 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Cafer Zorkun, M.D., Ph.D. [2] Aarti Narayan, M.B.B.S [3]
Overview
Several other forms of sickle syndrome occur as a result of inheriting one sickle cell gene from one parent and another hemoglobinopathy from another parent. However, the sickle cell anemia is autosomal recessive.
Classification
"Sickle-cell anemia" is the name of a specific form of sickle-cell disease in which there is homozygosity for the mutation that causes Hgb S. Other forms of sickle-cell disease include:
- Sickle-hemoglobin C disease
- Sickle beta-plus-thalassaemia
- Sickle beta-zero-thalassaemia
The term "disease" is applied here since the inherited abnormality causes a pathological condition that can lead to death and severe complications. Not all inherited variants of hemoglobin are detrimental, a concept known as genetic polymorphisms. Hemoglobin is one of the best-characterized proteins in terms of inherited variants; some variants manifest as severe thalassaemia, such as beta-zero-thalassaemia, and other variants manifest as a milder thalassaemia, such as beta-plus-thalassaemia.