Sickle-cell disease classification: Difference between revisions
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{{Sickle-cell disease}} | {{Sickle-cell disease}} | ||
{{CMG}}; {{CZ}} {{AN}} | {{CMG}}; {{CZ}} {{AN}} {{shyam}} | ||
==Overview== | ==Overview== | ||
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==Classification== | ==Classification== | ||
Sickle cell syndrome includes: | Sickle cell syndrome includes: | ||
* Sickle-cell anemia | * Sickle-cell anemia (HbSS) | ||
**Patients who have sickle cell disease who inherit one copy of sickle cell gene from each parent | **Patients who have sickle cell disease who inherit one copy of sickle cell gene from each parent. Each parent contributes one sickle cell allele (HbS). | ||
* Sickle-[[hemoglobin C]] disease (Hb SC) | * 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 | **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. HbC and HbS both involve point mutations. HbC is characterized by a point mutation that substitutes lysine for glutamic acid, as opposed to HbS in which valine is substituted for glutamic acid. | ||
* Sickle [[β | * Sickle [[β thalassemia]] (HbS β thalassemia) | ||
**These patients with sickle cell disease inherit one copy of sickle cell gene from one parent and another copy of [[β thalassaemia]] gene | **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 '+' | **There are two types of HbS β Thalassaemia: '0' and '+' | ||
***HbS β 0 | ***HbS β 0 Thallasemia: more severe form of SCD | ||
***HbS β + | ***HbS β + Thallasemia: milder form of SCD | ||
*HbSD, HbSE, and HbSO | *HbSD, HbSE, and HbSO | ||
**These patients inherit one copy of sickle cell gene and another copy of abnormal [[hemoglobin]]. | **These patients inherit one copy of sickle cell gene and another copy of abnormal [[hemoglobin]]. | ||
Revision as of 00:31, 27 August 2016
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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] Shyam Patel [4]
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 (HbSS)
- Patients who have sickle cell disease who inherit one copy of sickle cell gene from each parent. Each parent contributes one sickle cell allele (HbS).
- 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. HbC and HbS both involve point mutations. HbC is characterized by a point mutation that substitutes lysine for glutamic acid, as opposed to HbS in which valine is substituted for glutamic acid.
- Sickle β thalassemia (HbS β thalassemia)
- 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 Thallasemia: more severe form of SCD
- HbS β + Thallasemia: 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.