葡萄糖-6-磷酸脱氢酶

该检查用于检测红细胞（RBCs）内的葡萄糖-6磷酸脱氢酶（G6PD）。G6PD是一种可防止红细胞氧化的酶。如果G6PD不足，红细胞易受氧化损伤。如果这些红细胞暴露于氧化剂，其细胞结构将改变，引起细胞内的血红蛋白沉淀（海因茨小体），造成红细胞破裂（溶血）。p>

        G6PD缺陷（最严重的形式被称为蚕豆病）是世界上最常见的酶缺乏症，根据内穆尔基金会的报告，大约影响4亿人。其中20％患者在非洲，4-30％在地中海以及东南亚。基因突变或G6PD基因的改变可影响G6PD酶的产生，使其功能或稳定性可降低，表达的酶活性水平降低。

        到目前为止，已确定有超过440个G6PD基因的变异，并导致酶活性不同程度的缺陷，而严重程度取决于基因突变和个人情况。G6PD基因定位于X染色体上。由于男性为一条X和一条Y染色体，如果异常基因是遗传自患者母亲，只要X染色体携带G6PD基因，就会导致G6PD缺陷。女性有两条X染色体，因此，两条G6PD基因均可能遗传有变异。杂合子女性（只有一条突变基因）能产生足够量正常的G6PD，通常不出现任何症状。只有当发现她们的儿子出现缺陷时，才可能发现其异常基因。纯合子女性患者比较少见，有两条突变的G6PD基因（相同或不同突变），将出现G6PD缺陷。

        新生儿G6PD缺陷会引起持续性黄疸。如果不进行治疗，该黄疸可导致脑损伤和智力迟钝。

        大多数G6PD缺陷的患者生活不受影响，但需要注意避免特定的药物(阿司匹林、磺胺类、奎宁)、食物(如蚕豆)和一些化学物质(如蛾卵中的萘)，这些物质可引起氧化应激，导致溶血危象。细菌性或病毒性感染也可引起氧化应激，导致溶血性贫血。溶血性贫血时，红细胞进行性被破坏，机体运输氧的能力下降，患者出现脸色苍白、易疲劳等症状。溶血发作时，有些患者也可表现出黄疸的症状。大多情况下，溶血具有自限性，但如果大量的红细胞被破坏和身体不能快速产生替代细胞，那么患者可能需要输血。有一小部分G6PD缺陷患者可能出现慢性贫血。

自肘静脉采集血液样本。

不需要任何试验前准备。

疾病: 贫血
筛查: 新生儿筛查试验

March of Dimes: Newborn Screening Tests
National Newborn Screening and Genetics Resource Center
An Introduction to G6PD Deficiency
Netdoctor.co.uk: Oxidative Stress

Sources Used in Current Review

Pagana, Kathleen D. & Pagana, Timothy J. (© 2007). Mosby’s Diagnostic and Laboratory Test Reference 8th Edition: Mosby, Inc., Saint Louis, MO. Pp 497-498.

Wu, A. (2006).  Tietz Clinical Guide to Laboratory Tests, Fourth Edition. Saunders Elsevier, St. Louis, Missouri. Pp 456-457.

Ben-Joseph, E. (2006 August, Reviewed). G6PD deficiency. Nemours Foundation, KidsHealth for Parents [On-line information]. Available online at http://kidshealth.org/parent/general/aches/g6pd.html through http://kidshealth.org. Accessed on 8-27-08.

Matsui, W. (2007 February 26, Updated). Glucose-6-phosphate dehydrogenase deficiency. MedlinePlus Medical Encyclopedia [On-line information]. Available online at http://www.nlm.nih.gov/medlineplus/ency/article/000528.htm. Accessed on 8-27-08.

Henningson, C. (2007 March 22, Updated). Glucose-6-phosphate dehydrogenase. MedlinePlus Medical Encyclopedia [On-line information]. Available online at http://www.nlm.nih.gov/medlineplus/ency/article/003671.htm. Accessed on 8-27-08.

(2006 May, Reviewed). Glucose-6-phosphate dehydrogenase deficiency. Genetics Home Reference [On-line information]. Available online at http://ghr.nlm.nih.gov/condition=glucose6phosphatedehydrogenasedeficiency through http://ghr.nlm.nih.gov. Accessed on 8-27-08.

(2006 September). What is Hemolytic Anemia. NHLBI [On-line information]. Available online at http://www.nhlbi.nih.gov/health/dci/Diseases/ha/ha_whatis.html through http://www.nhlbi.nih.gov. Accessed on 8-27-08.

G6PD Deficiency Favism Association, What is G6PD Deficiency? Available online at http://www.g6pd.org/favism/english/index.mv?pgid=intro through http://www.g6pd.org. Accessed September 2008.

Sources Used in Previous Reviews

Thomas, Clayton L., Editor (1997). Taber’s Cyclopedic Medical Dictionary. F.A. Davis Company, Philadelphia, PA [18th Edition].

Pagana, Kathleen D. & Pagana, Timothy J. (2001). Mosby’s Diagnostic and Laboratory Test Reference 5th Edition: Mosby, Inc., Saint Louis, MO. Pp 449-450.

(© 2004). Glucose-6-Phosphate Dehydrogenase. ARUP's Guide to Clinical Laboratory Testing [On-line information]. Available online at http://www.aruplab.com/guides/clt/tests/clt_a266.jsp#1149592 through http://www.aruplab.com.

Pradell, L. (2003 January, Reviewed). G6PD deficiency. KidsHealth, Nemours Foundation [On-line information]. Available online at http://kidshealth.org/parent/general/aches/g6pd.html through http://kidshealth.org.

Lica, L. (©2001 – 2004). Glucose-6-phosphate dehydrogenase deficiency. Blueprint for Health, Blue Cross and Blue Shield of Minnesota [On-line information]. Available online at http://blueprint.bluecrossmn.com/article/gale/100084627 through http://blueprint.bluecrossmn.com.

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WHO Working Group, Beutler, E. et. al. (1989). Glucose-6-phosphate dehydrogenase deficiency [64 paragraphs]. Bulletin of the World Health Organization 67 (6): 601-611. [On-line journal]. PDF available for download at http://whqlibdoc.who.int/bulletin/1989/Vol67-No6/bulletin_1989_67(6)_601-611.pdf through http://whqlibdoc.who.int.

Beutler, E. (© 1996-2004). Erythrocyte disorders: Anemias due to increased destruction of erythrocytes with enzyme deficiencies Glucose-6-phosphate dehydrogenase deficiency. G6PD Deficiency favism association [On-line article from Williams' HEMATOLOGY]. Available online at http://www.rialto.com/favism/english/index.mv?pgid=beutler_01 through http://www.rialto.com.

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