Hereditary spherocytosis pathophysiology

Jump to navigation Jump to search

Hereditary spherocytosis Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Hereditary spherocytosis from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

Chest X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Hereditary spherocytosis pathophysiology On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Hereditary spherocytosis pathophysiology

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Hereditary spherocytosis pathophysiology

CDC on Hereditary spherocytosis pathophysiology

Hereditary spherocytosis pathophysiology in the news

Blogs on Hereditary spherocytosis pathophysiology

Directions to Hospitals Treating Hereditary spherocytosis

Risk calculators and risk factors for Hereditary spherocytosis pathophysiology

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

The defects in hereditary spherocytosis lie in the cell membrane. The proteins essential for integrity of cell membrane structure lie immediately under the lipid bilayer, horizental alpha & beta spectrin molecules form heterodimers with linkage to vertical elements including ankyrin, proteins 4.1 & 4.2 and band 3 (transmembrane protein). The shorter the lifespan of red blood cells, the worse the clinical effects. Spectrin protein is a tetramer composed of alpha & beta dimers, its deficiency is most frequently seen in hereditary spherocytosis. Spectrin deficiency can result from impaired synthesis of spectrin or from qualitative or quantitative defects in other proteins that integrate proteins into red blood cells. Ankyrin is the principal binding site for spectrin on red blood cell membrane, its deficiency leading to decreased incorporation of spectrin, leading to proportional decrease in spectrin content as well despite normal synthesis of spectrin. Band 3 deficiency is seen in 10-20% of patients with mild to moderate autosomal dominant hereditary spherocytosis and is considerably greater in older red blood cells. Protein 4.2 (Pallidin) deficiency leads to abnormal red blood cell morphology including spherocytes, elliptocytes or sphero-ovalocytes, it is relatively common in japan. Red blood cell antibodies may also have a pathogenic role in red blood cell opsonization and removal by spleen.

Pathophysiology

References

  1. Bolton-Maggs, P H B (2004). "Hereditary spherocytosis; new guidelines". Archives of Disease in Childhood. 89 (9): 809–812. doi:10.1136/adc.2003.034587. ISSN 0003-9888.
  2. Perrotta, S.; Della Ragione, F.; Rossi, F.; Avvisati, R. A.; Di Pinto, D.; De Mieri, G.; Scianguetta, S.; Mancusi, S.; De Falco, L.; Marano, V.; Iolascon, A. (2009). "-spectrinBari: a truncated  -chain responsible for dominant hereditary spherocytosis". Haematologica. 94 (12): 1753–1757. doi:10.3324/haematol.2009.010124. ISSN 0390-6078.
  3. Maciag M, Płochocka D, Adamowicz-Salach A, Burzyńska B (2009). "Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA". Br J Haematol. 146 (3): 326–32. doi:10.1111/j.1365-2141.2009.07759.x. PMID 19538529.
  4. Zaninoni A, Vercellati C, Imperiali FG, Marcello AP, Fattizzo B, Fermo E; et al. (2015). "Detection of red blood cell antibodies in mitogen-stimulated cultures from patients with hereditary spherocytosis". Transfusion. 55 (12): 2930–8. doi:10.1111/trf.13257. PMID 26259504.

Template:WH Template:WS