Sickle-cell disease classification scheme: Difference between revisions
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{{Sickle-cell disease}} | {{Sickle-cell disease}} | ||
{{CMG}}; {{ | {{CMG}}; {{CZ}} {{AN}} | ||
==Overview== | ==Overview== | ||
==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 | "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-[[hemoglobin C]] disease | ||
* | * Sickle beta-plus-[[thalassaemia]] | ||
* | * Sickle beta-zero-thalassaemia | ||
These other forms of sickle-cell disease are [[compound heterozygous]] states in which the person has only one copy of the mutation that causes | These other forms of sickle-cell disease are [[compound heterozygous]] states in which the person has only one copy of the mutation that causes Hb S and one copy of another abnormal [[hemoglobin]] [[allele]]. | ||
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]]. | 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]]. | ||
==References== | ==References== | ||
Revision as of 20:27, 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
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
These other forms of sickle-cell disease are compound heterozygous states in which the person has only one copy of the mutation that causes Hb S and one copy of another abnormal hemoglobin allele.
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.