球状赤血球症

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/02/24 14:02:10」(JST)

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Spherocytosis seen in a peripheral blood smear from a patient with hereditary spherocytosis

Spherocytosis is an auto-hemolytic anemia (a disease of the blood) characterized by the production of red blood cells (RBCs), or erythrocytes, that are sphere-shaped, rather than bi-concave disk shaped. Spherocytes are found in hereditary spherocytosis and autoimmune hemolytic anemia.^[1]

It almost always refers to hereditary spherocytosis. This is caused by a molecular defect in one or more of the proteins of the red blood cell cytoskeleton, including, spectrin, ankyrin, Band 3, or Protein 4.2. Because the cell skeleton has a defect, the blood cell contracts to its most surface-tension efficient and least flexible configuration, a sphere. The sphere-shaped red blood cells are known as spherocytes. Though the spherocytes have a smaller surface area through which oxygen and carbon dioxide can be exchanged, they in themselves perform adequately to maintain healthy oxygen supplies. However, they have a high osmotic fragility--when placed into water, they are more likely to burst than normal red blood cells. These cells are more prone to physical degradation.

They are most commonly found in immunologically-mediated hemolytic anemias and in hereditary spherocytosis, but the former would have a positive direct Coombs test and the latter would not. The misshapen but otherwise healthy red blood cells are mistaken by the spleen for old or damaged red blood cells and it thus constantly breaks them down, causing a cycle whereby the body destroys its own blood supply (auto-hemolysis).

The term "non hereditary spherocytosis" is occasionally used, albeit rarely. ^[2]

External links

A short article from WebMD
A picture of spherocytes from Medline
Hereditary Spherocytosis from Medscape

References

^ Robert S. Hillman; Kenneth A. Ault; Henry M. Rinder (2005). Hematology in clinical practice: a guide to diagnosis and management. McGraw-Hill Professional. pp. 146–. ISBN 978-0-07-144035-6. http://books.google.com/books?id=NJs1VpA8SEoC&pg=PA146. Retrieved 15 November 2010.
^ Thoma J, Kutter D, Casel S, et al. (2005). "HbSC hemoglobinopathy suspected by chest x-ray and red blood cell morphology". Acta Clin Belg 60 (6): 377–82. PMID 16502600.

UpToDate Contents

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1. 遺伝性球状赤血球症：臨床的特徴、診断および治療 hereditary spherocytosis clinical features diagnosis and treatment
2. 遺伝性球状赤血球症：溶血の機序および原因 hereditary spherocytosis mechanism of hemolysis and pathogenesis
3. 小児における溶血性貧血の概要 overview of hemolytic anemias in children
4. 末梢血塗抹標本の評価 evaluation of the peripheral blood smear
5. 成人における溶血性貧血の診断へのアプローチ approach to the diagnosis of hemolytic anemia in the adult

English Journal

Use of capillary blood to diagnose hereditary spherocytosis.

Crisp RL, Solari L, Gammella D, Schvartzman GA, Rapetti MC, Donato H.SourceDivisión Hematología Clínica, Departamento de Medicina, Hospital Nacional Alejandro Posadas, Buenos Aires, Argentina; Laboratorio de Análisis Biológicos, Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires, Argentina; Consultorios de Hematología Infantil, Buenos Aires, Argentina. reneecrisp@gmail.com.
Pediatric blood & cancer.Pediatr Blood Cancer.2012 Dec 15;59(7):1299-301. doi: 10.1002/pbc.24157. Epub 2012 Apr 5.
We studied 31 children with hemolytic anemia, or with positive family history for hereditary spherocytosis (HS), to assess the reliability of capillary blood samples for the diagnosis. HS was diagnosed in 20 patients. Cryohemolysis (CH) was positive in 94% and eosin-5'-maleimide flow cytometry in 90
PMID 22488885

A NOVEL HEMOGLOBIN-BINDING PEPTIDE REDUCES CELL-FREE HEMOGLOBIN IN MURINE HEMOLYTIC ANEMIA.

Hanson MS, Xu H, Flewelen TC, Holzhauer SL, Retherford D, Jones DW, Frei AC, Pritchard KA Jr, Hillery CA, Hogg N, Wandersee NJ.Source1Medical College of Wisconsin.
American journal of physiology. Heart and circulatory physiology.Am J Physiol Heart Circ Physiol.2012 Nov 2. [Epub ahead of print]
Hemolysis can saturate the hemoglobin/heme scavenging system resulting in increased circulating cell-free hemoglobin (CF-Hb) in hereditary and acquired hemolytic disease. While recent studies suggest a central role for intravascular hemolysis and CF-Hb in the development of vascular dysfunction, thi
PMID 23125208

Japanese Journal

臨床研究・症例報告カルボキシヘモグロビン測定により早期診断し得た遺伝性球状赤血球症の新生児2例

佐藤英子,中村利彦,蒲原孝 [他]
小児科臨床 68(5), 1022-1026, 2015-05
NAID 40020429593

A systematic review of hereditary spherocytosis reported in Chinese biomedical journals from 1978 to 2013 and estimation of the prevalence of the disease using a disease model

, , , ,
Intractable & Rare Diseases Research advpub(0), 2015
… Epidemiological information of hereditary spherocytosis in China is slight. … This systematic review summarizes the number of cases of hereditary spherocytosis reported in China Biology Medicine disc from 1978 to 2013. … We also estimate the literature reported prevalence of hereditary spherocytosis by DisMod-II software, overall prevalence in China was estimated to be: 1.27 cases per 100,000 people in males and 1.49 cases per 100,000 people in females. …
NAID 130005064603

不顕性溶血のためにHbA1cが低値を示した2例

中村裕子,岡野理江子,稲田慎也,上田晋一郎,亀山智子,鈴木俊伸,陳瑛超,谷川和子,末盛晋一郎,和田秀穂,橋本久仁彦,古賀正史
糖尿病 58(2), 128-135, 2015
我々は不顕性溶血のためにHbA1cが低値を示した2例を経験した．1例は非糖尿病，他の1例は糖尿病合併例であったが，2例ともグリコアルブミンとHbA1cの比は著明高値であった．また，2例ともHPLC法および免疫法で測定したHbA1c値が一致したために異常ヘモグロビンは否定された．2例ともに貧血を認めなかったが，ハプトグロビンの低値，網状赤血球の高値を認めた．また，末梢血の塗末標本および走査電顕にて赤 …
NAID 130004905478