Strategy linking several analytical methods of neonatal screening for sickle cell disease

Journal of Medical Screening

Volumn 8, Issue 1, 2001, Pages 8-14

  Ducrocq, R ^a,b   Pascaud, O ^a   Bevier A ^a   Finet, C ^a   Benkerrou, M ^c   Elion, J ^a,b  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b INSERM   (France)

^c Centre de Référence de la Drépanocytose   (France)

Author keywords

Efficiency of screening; High performance liquid chromatography; Neonatal screening; Pitfalls; Sickle cell disease

Indexed keywords

DNA; GAMMA GLOBIN; HEMOGLOBIN A; HEMOGLOBIN S; HEMOGLOBIN VARIANT;

ANALYTIC METHOD; ARTICLE; DIAGNOSTIC ACCURACY; DNA DETERMINATION; HEMOGLOBIN DETERMINATION; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; ION EXCHANGE CHROMATOGRAPHY; ISOELECTRIC FOCUSING; MAJOR CLINICAL STUDY; NEWBORN; NEWBORN SCREENING; REVERSED PHASE HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; SICKLE CELL ANEMIA;

ANEMIA, SICKLE CELL; BASE SEQUENCE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CHROMATOGRAPHY, ION EXCHANGE; DIAGNOSTIC ERRORS; GENETIC SCREENING; HEMOGLOBIN, SICKLE; HETEROZYGOTE DETECTION; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; OLIGONUCLEOTIDE PROBES; PARIS; SENSITIVITY AND SPECIFICITY; VARIATION (GENETICS);

EID: 0035012546     PISSN: 09691413     EISSN: None     Source Type: Journal    
DOI: 10.1136/jms.8.1.8     Document Type: Article

References (21)

1. 1 Githens JH, Lane PA, McCurdy RS, et al. Newborn screening for hemoglobinopathies in Colorado: the first 10 years. Am J Dis Child 1990;144:466-70.
2. 2 Lorey F, Cunningham G, Shafer F, et al. Universal screening for hemoglobinopathies using high-performance liquid chromatography: clinical results of 2.2 million screens. Eur J Hum Genet 1994;2:262-71.
3. 3 Yorke D, Mitchell J, Clow C, et al. Newborn screening for sickle cell and other hemoglobinopathies: a Canadian pilot study. Clin Invest Med 1992;15:376-83.
4. 4 Davies SC, Henthorn JS, Graham VV. Neonatal screening for haemoglobinopathies in North West London, UK. In: Farriaux JP, Dhondt JL, eds. New horizons in neonatal screening. Amsterdam: Elsevier 1994:195-98.
5. 5 Galactéros F. Neonatal screening for sickle cell disease in the metropolitan French territory. 9th international neonatal screening symposium. Second meeting of the International Socisty for Neonatal Screening. Lille, France: Elsevier, 1993.
6. 6 Consensus Conference. Newborn screening for sickle cell disease and other hemoglobinopathies. JAMA 1987;258: 1205-9.
7. 7 Recommendations for neonatal screening for haemoglobinopathies. International Committee for Standardisation in Haematology (ICSH). Expert panel on Abnormal Haemoglobins. Clin Lab Haematol 1988;10:335-45.
8. 8 Gaston MH, Verter JI, Woods G, et al. Prophylaxis with oral penicillin in children with sickle cell anemia: a randomized trial. N Engl J Med 1986;314:1593-9.
9. 9 Galactéros F, Kleman K, Caburi-Martin J, et al. Cord blood screening for hemoglobin abnormalities by thin layer isoelectric focusing. Blood 1980;56:1068-71.
10. 10 Kleman KM, Vichinsky E, Lubin B. Experience with newborn screening using isoelectric focusing. Pediatrics 1989;83:852-4.
11. 11 Loomis SJ, Go M, Kupeli L, et al. An automated system for sickle cell screening. Am Clin Lab 1990;9:33-40.
12. 12 Shapira E, Miller VL, Miller JB, et al. Sickle cell screening using a rapid automated HPLC system. Clin Chim Acta 1989;182:301-8.
13. 13 Schneider RG, Hosty TS, Tomlin G, et al. Identification of hemoglobins and hemoglobinopathies by electrophoresis on cellulose acetate places impregnated with citrate agar. Clin Chem 1974;20:74-7.
14. 14 Arad Y, Mayer TK, Arvan DA. Isoelectric focusing of hemoglobins on thin-layer agarose. Am J Clin Pathol 1981; 76:200-5.
15. 15 Shelton JB, Shelton JR, Schroeder WA. High performance liquid Chromatographic separation of globin chains on a large-pore C4 column. Journal of Liquid Chromatography 1984;7:1969-77.
16. 16 Cai S, Wall J, Kan YW, et al. Reverse dot blot probes for the screening of β-thalassemia mutations in Asians and American blacks. Hum Genet 1994;3:59-63.
17. 17 Ghanem N, Girodon E, Vidaud M, et al. A comprehensive scanning method for rapid detection of β-globin gene mutations and polymorphisms. Hum Genet 1992;1:229-39.
18. 18 Maggio A, Giambona A, Cai SP, et al. Rapid and simultaneous typing of hemoglobin S, hemoglobin C, and seven mediterranean β-thalassemia mutations by covalent reverse dot-blot analysis: application to prenatal diagnosis in Sicily. Blood 1993;81:239-42.
19. 19 Wajcman H, Borensztajn K, Riou J, et al. Two new Gy chain variants: HbF-Clamart [γ17(A14) Lys→Asn] and HbF-Ouled Rabah [γ19(B1) Asn→Lys]. Hemoglobin 2000;24: 45-52.
20. 136Gly→Asp): a pitfall in the newborn screening for sickle cell disease, J Med Screen 1998;5:27-30.
21. 21 Campbell M, Henthorn JS, Davies SC. Evaluation of cation-exchange HPLC compared with isoelectric focusing for neonatal hemoglobinopathy screening. Clin Chem 1999; 45:969-75.