Sickle-cell disease overview: Difference between revisions

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==Classification==
==Classification==
*Sickle cell disease does not have a traditional classification method. However, there are a few particular subtypes:
*Sickle cell disease does not have a traditional classification method, as it true for other hemoglobinopathies.<ref name="pmid23378597">{{cite journal| author=Forget BG, Bunn HF| title=Classification of the disorders of hemoglobin. | journal=Cold Spring Harb Perspect Med | year= 2013 | volume= 3 | issue= 2 | pages= a011684 | pmid=23378597 | doi=10.1101/cshperspect.a011684 | pmc=3552344 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23378597  }} </ref> However, there are a few particular subtypes:
:*HbSS (sickle cell anemia)
:*HbSS (sickle cell anemia)
:*HbSC (milder form of sickle cell anemia)
:*HbSC (milder form of sickle cell anemia)
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:*HbSB+thal (beta-thalassemia anemia)
:*HbSB+thal (beta-thalassemia anemia)
:*HbSB0thal (beta-thalassemia anemia)
:*HbSB0thal (beta-thalassemia anemia)
*Other variants of sickle cell disease include HbSD, HbSE, or HbSO (one sickle cell gene and one other gene).
*Other variants of sickle cell disease include HbSD, HbSE, or HbSO (one sickle cell gene and one other gene).<ref name="pmid23378597">{{cite journal| author=Forget BG, Bunn HF| title=Classification of the disorders of hemoglobin. | journal=Cold Spring Harb Perspect Med | year= 2013 | volume= 3 | issue= 2 | pages= a011684 | pmid=23378597 | doi=10.1101/cshperspect.a011684 | pmc=3552344 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23378597  }} </ref>
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Revision as of 05:30, 6 July 2016

Sickle-cell disease Microchapters

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Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Sickle-cell disease from other Diseases

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]

Overview

Sickle-cell disease is a group of genetic disorders caused by mutation in the β-globin chain gene of hemoglobin at the 6th position replacing glutamic acid to valine. HbS polymerizes reversibly when deoxygenated to form a network of fibrous hemoglobin polymers that stiffens the RBC membrane, giving it a sickle shape. These sickled cells loose the pliability to cross thin capillaries and possess a sticky membrane, giving it a property to adhere to the endothelium of blood vessels, thereby causing vaso-occlusion. It causes significant morbidity and mortality, particularly in people in the Mediterranean and African region.

Historical Perspective

  • Sickle cell disease has a significant historical perspective. Many centuries ago, it was noted that people from Africa succumbed to vaso-occlusive pain crises.[1] At this time, the etiology for pain crises was not clear. The pioneering work established by James Herrick nearly a century years ago. James Herrick noted that a dental student from Grenada had abnormally shaped rec blood cells on his peripheral blood smear. In 1936, vaso-occlusion the pulmonary vascular beds was noted on an autopsy.[1]
  • In [year], [gene] mutations were first identified in the pathogenesis of [disease name].
  • In [year], the first [discovery] was developed by [scientist] to treat/diagnose [disease name].

Classification

  • Sickle cell disease does not have a traditional classification method, as it true for other hemoglobinopathies.[2] However, there are a few particular subtypes:
  • HbSS (sickle cell anemia)
  • HbSC (milder form of sickle cell anemia)
  • HbAS (sickle cell trait)
  • HbSB+thal (beta-thalassemia anemia)
  • HbSB0thal (beta-thalassemia anemia)
  • Other variants of sickle cell disease include HbSD, HbSE, or HbSO (one sickle cell gene and one other gene).[2]

.

Pathophysiology

  • The pathogenesis of sickle cell disease is characterized by an amino acid substitution on the beta-globin chain, resulting in red blood cell sickling and vaso-occlusive episodes in various organs.
  • A mutation in beta-globin, namely a a point mutation in exon 1 that substitutes valine for glutamic acid has been associated with the development of sickle cell disease, involving the hemoglobin synthesis pathway.[3]
  • On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
  • On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].

Causes

  • [Disease name] may be caused by either [cause1], [cause2], or [cause3].
  • [Disease name] is caused by a mutation in the [gene1], [gene2], or [gene3] gene[s].
  • There are no established causes for [disease name].

Differentiating [disease name] from other Diseases

  • [Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as:
  • [Differential dx1]
  • [Differential dx2]
  • [Differential dx3]

Epidemiology and Demographics

  • The prevalence of [disease name] is approximately [number or range] per 100,000 individuals worldwide.
  • In [year], the incidence of [disease name] was estimated to be [number or range] cases per 100,000 individuals in [location].

Age

  • Patients of all age groups may develop [disease name].
  • [Disease name] is more commonly observed among patients aged [age range] years old.
  • [Disease name] is more commonly observed among [elderly patients/young patients/children].

Gender

  • [Disease name] affects men and women equally.
  • [Gender 1] are more commonly affected with [disease name] than [gender 2].
  • The [gender 1] to [Gender 2] ratio is approximately [number > 1] to 1.

Race

  • There is no racial predilection for [disease name].
  • [Disease name] usually affects individuals of the [race 1] race.
  • [Race 2] individuals are less likely to develop [disease name].

Risk Factors

  • Common risk factors in the development of [disease name] are [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].

Natural History, Complications and Prognosis

  • The majority of patients with [disease name] remain asymptomatic for [duration/years].
  • Early clinical features include [manifestation 1], [manifestation 2], and [manifestation 3].
  • If left untreated, [#%] of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
  • Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
  • Prognosis is generally [excellent/good/poor], and the [1/5/10­year mortality/survival rate] of patients with [disease name] is approximately [#%].

Diagnosis

Diagnostic Criteria

  • The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met:
  • [criterion 1]
  • [criterion 2]
  • [criterion 3]
  • [criterion 4]

Symptoms

  • [Disease name] is usually asymptomatic.
  • Symptoms of [disease name] may include the following:
  • [symptom 1]
  • [symptom 2]
  • [symptom 3]
  • [symptom 4]
  • [symptom 5]
  • [symptom 6]

Physical Examination

  • Patients with [disease name] usually appear [general appearance].
  • Physical examination may be remarkable for:
  • [finding 1]
  • [finding 2]
  • [finding 3]
  • [finding 4]
  • [finding 5]
  • [finding 6]

Laboratory Findings

  • There are no specific laboratory findings associated with [disease name].
  • A [positive/negative] [test name] is diagnostic of [disease name].
  • An [elevated/reduced] concentration of [serum/blood/urinary/CSF/other] [lab test] is diagnostic of [disease name].
  • Other laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].

Imaging Findings

  • There are no [imaging study] findings associated with [disease name].
  • [Imaging study 1] is the imaging modality of choice for [disease name].
  • On [imaging study 1], [disease name] is characterized by [finding 1], [finding 2], and [finding 3].
  • [Imaging study 2] may demonstrate [finding 1], [finding 2], and [finding 3].

Other Diagnostic Studies

  • [Disease name] may also be diagnosed using [diagnostic study name].
  • Findings on [diagnostic study name] include [finding 1], [finding 2], and [finding 3].

Treatment

Medical Therapy

  • There is no treatment for [disease name]; the mainstay of therapy is supportive care.
  • The mainstay of therapy for [disease name] is [medical therapy 1] and [medical therapy 2].
  • [Medical therapy 1] acts by [mechanism of action 1].
  • Response to [medical therapy 1] can be monitored with [test/physical finding/imaging] every [frequency/duration].

Surgery

  • Surgery is the mainstay of therapy for [disease name].
  • [Surgical procedure] in conjunction with [chemotherapy/radiation] is the most common approach to the treatment of [disease name].
  • [Surgical procedure] can only be performed for patients with [disease stage] [disease name].

Prevention

  • There are no primary preventive measures available for [disease name].
  • Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].
  • Once diagnosed and successfully treated, patients with [disease name] are followed-up every [duration]. Follow-up testing includes [test 1], [test 2], and [test 3].

References

  1. 1.0 1.1 Kato GJ, Hebbel RP, Steinberg MH, Gladwin MT (2009). "Vasculopathy in sickle cell disease: Biology, pathophysiology, genetics, translational medicine, and new research directions". Am J Hematol. 84 (9): 618–25. doi:10.1002/ajh.21475. PMC 3209715. PMID 19610078.
  2. 2.0 2.1 Forget BG, Bunn HF (2013). "Classification of the disorders of hemoglobin". Cold Spring Harb Perspect Med. 3 (2): a011684. doi:10.1101/cshperspect.a011684. PMC 3552344. PMID 23378597.
  3. Ballas SK, Kesen MR, Goldberg MF, Lutty GA, Dampier C, Osunkwo I; et al. (2012). "Beyond the definitions of the phenotypic complications of sickle cell disease: an update on management". ScientificWorldJournal. 2012: 949535. doi:10.1100/2012/949535. PMC 3415156. PMID 22924029.

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