Compound heterozygosity Hb S/Hb hope (βGly←Asp): A pitfall in the newborn screening for sickle cell disease

Journal of Medical Screening

Volumn 5, Issue 1, 1998, Pages 27-30

  Ducrocq, R ^a   Bevier A ^a   Leneveu, A ^a   Maier Redelsperger, M ^b   Bardakdjian Michau, J ^c   Badens, C ^d   Elion, J ^a  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b HÔPITAL TENON   (France)

^c HENRI MONDOR HOSPITAL   (France)

^d TIMONE HOSPITAL   (France)

Author keywords

False positive; Hb Hope; Newborn screening; Sickle cell disease

Indexed keywords

HEMOGLOBIN H; HEMOGLOBIN S;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; HEMOGLOBIN DETERMINATION; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; ISOELECTRIC FOCUSING; MAJOR CLINICAL STUDY; NEWBORN SCREENING; POINT MUTATION; SICKLE CELL ANEMIA;

EID: 0031776612     PISSN: 09691413     EISSN: None     Source Type: Journal    
DOI: 10.1136/jms.5.1.27     Document Type: Article

References (21)

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. 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. 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. Davies SC, Henthorn JS, Graham VV. Neonatal screening for haemoglobinopathies in North West London, U.K. In: Farriaux JP, Dhondt JL, eds. New horizons in neonatal screening. Amsterdam: Elsevier, 1994:195-8.
5. Galactéros F. Neonatal screening for sickle cell disease in the metropolitan french territory. 9th international neonatal screening symposium. Second meeting of the International Society for Neonatal Screening, Lille France. 1993.
6. Consensus conference: Newborn screening for sickle cell disease and other hemoglobinopathies. JAMA 1987;258: 1205-9.
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. 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.
9. Kleman KM, Vichinsky E, Lubin B. Experience with newborn screening using isoelectric focusing. Pediatrics 1989;83:852-4.
10. Huisman TH. Usefulness of cation exchange high performance liquid chromatography as a testing procedure. Pediatrics 1989;83:849-51.
11. Van der Dijs FP, Van der Berg GA, Schermer JG, et al. Screening cord blood for hemoglobinopathies and thalassemia by HPLC. Clin Chem 1992;38:1864-9.
12. Loomis SJ, Go M, Kupeli L, et al. An automated system for sickle cell screening. Am Clin Lab 1990;9:33-40.
13. Shapira E, Miller VL, Miller JB, et al. Sickle cell screening using a rapid automated HPLC system. Clin Chim Acta. 1989;182:301-8.
14. Kiefer CR, Shyamala M, Moscoso H, et al. Negative screening for sickle cell diseases with a monoclonal immunoassay on newborn blood eluted from filter paper. J Lab Clin Med 1990;116:826-30.
15. Schneider RG, Hosty TS, Tomlin G, et al. Identification of hemoglobins and hemoglobinopathies by electrophoresis on cellulose acetate plates impregnated with citrate agar. Clin Chem 1974;20:74-7.
16. Arad Y, Mayer TK, Arvan DA. Isoelectric focusing of hemoglobins on thin-layer agarose. Am J Clin Pathol 1981; 76:200-5.
17. Minnich V, Hill RJ, Khuri PD, et al. Hemoglobin Hope : a beta chain variant. Blood 1965;25:830-8.
18. Steinberg MH, Adams JG, Thigpen JT, et al. Hemoglobin Hope (alpha 2 beta 2(136-Gly-Asp))-S disease: clinical and biochemical studies. J Lab Clin Med 1974;84:632-12.
19. Ducrocq R, Berriche S, Dalle MT, et al. Rapid quantification of Hb Hope in heterozygotes. Clin Chem 1984;30: 1425.
20. Chen-Marotel J, Braconnier F, Blouquit Y, et al. Hemoglobin Bougardirey-Mali β119 (GH2) Gly→Val. An electrophoretically silent variant migrating in isoelectro-focusing as Hb F. Hemoglobin 1979;3:253-62.
21. Bunn HF, Forget BG. Sickle cell disease: clinical and epidemiological aspects. In: Hemoglobin: molecular, genetic and clinical aspects. Philadelphia PA: Saunders, 1986:502-64.