Automated imaging of circulating fluorocytes for the diagnosis of erythropoietic protoporphyria: A pilot study for population screening

Journal of Medical Screening

Volumn 15, Issue 4, 2008, Pages 199-203

  Lau, Kin Chong ^a   Lam, Ching Wan ^a,b  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOMATION; CASE REPORT; CHILD; CYTOFLUOROMETRY; ERYTHROPOIETIC PROTOPORPHYRIA; FLUORESCENCE; HUMAN; IMAGING; MALE; POPULATION RESEARCH; QUALITY CONTROL; SCREENING; BLOOD; ERYTHROCYTE; GENETICS; HONG KONG; MASS SCREENING; METHODOLOGY; PATHOLOGY; PILOT STUDY; REFERENCE VALUE;

FERROCHELATASE; PROTOPORPHYRIN;

AUTOMATION; ERYTHROCYTES; FERROCHELATASE; HONG KONG; HUMANS; MASS SCREENING; PILOT PROJECTS; PROTOPORPHYRIA, ERYTHROPOIETIC; PROTOPORPHYRINS; REFERENCE VALUES;

EID: 62749192213     PISSN: 09691413     EISSN: 14755793     Source Type: Journal    
DOI: 10.1258/jms.2008.008038     Document Type: Article

References (14)

1. Nakahashi Y, Fujita H, Taketani S, Ishida N, Kappas A, Sassa S. The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria. Proc Nat Acad Sci USA 1992;89:281-285
2. Sandberg S, Brun A. Light-induced protoporphyrin release from erythrocytes in erythropoietic protoporphyria. J Clin Invest 1982;70:693-698 (Pubitemid 12054596)
3. Kappas A, Sassa S, Galbraith RA, Nordmann Y. The porphyrias. In: Scriver CR, Beaudet AL Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease. 7th edn. New York, NY: McGrawHill, 1995:2139
4. Gouya L, Martin-Schmitt C, Robreau AM, et al. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet 2006;78:2-14 (Pubitemid 41833155)
5. Rimington C, Cripps DJ. Biochemical and fluorescence-microscopy screening-tests for erythropoietic protoporphyria. Lancet 1965;17:624-626
6. Cordiali FP, Macri A, Trento E, et al. Flow cytometric analysis of fluorocytes in patients with erythropoietic porphyria. Eur J Histochem 1997;41:9-10
7. Lau KC, Lam CW, Fong B, Siu TS, Tam S. DNA-based diagnosis of erythropoietic protoporphyria in two families and the frequency of a low-expression FECH allele in a Chinese population. Clin Chim Acta, in press. See http://www.sciencedirect.com/science?ob=ArticleURL&-udi=B6T57-4TN0KYR- 1&user=1480352&-rdoc=1&fmt=&-orig=search&sort=d&view= c&acct=c000053041&version=1&-urlVersion=0&-userid= 1480352&md5=a098749fd72686477e6bce9a5e65a173 (available online October 2008)
8. Went LN, Klasen EC. Genetic aspects of erythropoietic protoporphyria. Ann Hum Genet 1984;48:105-117 (Pubitemid 14004308)
9. Schleiffenbaum BE, Minder EI, Möhr P, Decurtins M, Schaffner A. Cytofluorometry as a diagnosis of protoporphyria. Gastroenterology 1992;102:1044-1048
10. Sassaroli M, da Costa R, Vaananen H, Eisinger J, Poh-Fitzpatrick MB. Distribution of erythrocyte free porphyrin content in erythropoietic protoporphyria. J Lab Clin Med 1992;120:614-623
11. Piomelli S, Lamola AA, Poh-Fitzpatrick MF, Seaman C, Harber LC. Erythropoietic protoporphyria and lead intoxication: the molecular basis for difference in cutaneous photosensitivity. I. Different rates of disappearance of protoporphyrin from the erythrocytes, both in vivo and in vitro. J Clin Invest 1975;56:1519-1527
12. Brun A, Steen H, Sandberg S. Erythropoietic protoporphyria: two populations of reticulocytes, with and without protoporphyrin. Eur J Clin Invest 1996;26:270-278 (Pubitemid 26147062)
13. Whatley SD, Mason NG, Khan M, et al. Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease. J Med Genet 2004;41:e105
14. McMahon P, Yan A. Picture of the month. Erythropoietic protoporphyria. Arch Pediatr Adoles Med 2008;162:689-690 (Pubitemid 351961563)