Sickle-cell disease classification scheme: Difference between revisions
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{{CMG}}; {{ | {{CMG}}; {{CZ}} {{AN}} | ||
==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 syndrome includes: | |||
* Sickle-cell anemia | |||
* | **Patients who have sickle cell disease who inherit one copy of sickle cell gene from each parent | ||
* sickle | * Sickle-[[hemoglobin C]] disease (Hb SC) | ||
**These patients with symptoms of sickle cell disease inherit one copy of sickle cell gene from one parent and defective [[hemoglobin C]] from another parent | |||
* Sickle [[β thalassaemia]] (HbS β thalassaemia) | |||
**These patients with sickle cell disease inherit one copy of sickle cell gene from one parent and another copy of [[β thalassaemia]] gene | |||
**There are two types of HbS β Thalassaemia: '0' and '+' | |||
***HbS β 0 Thallasaemia: more severe form of SCD | |||
***HbS β + Thallasaemia: milder form of SCD | |||
*HbSD, HbSE, and HbSO | |||
**These patients inherit one copy of sickle cell gene and another copy of abnormal [[hemoglobin]]. | |||
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== | ||
Latest revision as of 21:04, 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 syndrome includes:
- Sickle-cell anemia
- Patients who have sickle cell disease who inherit one copy of sickle cell gene from each parent
- Sickle-hemoglobin C disease (Hb SC)
- These patients with symptoms of sickle cell disease inherit one copy of sickle cell gene from one parent and defective hemoglobin C from another parent
- Sickle β thalassaemia (HbS β thalassaemia)
- These patients with sickle cell disease inherit one copy of sickle cell gene from one parent and another copy of β thalassaemia gene
- There are two types of HbS β Thalassaemia: '0' and '+'
- HbS β 0 Thallasaemia: more severe form of SCD
- HbS β + Thallasaemia: milder form of SCD
- HbSD, HbSE, and HbSO
- These patients inherit one copy of sickle cell gene and another copy of abnormal hemoglobin.
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.