The role of haemoglobin A2 testing in the diagnosis of thalassaemias and related haemoglobinopathies

Journal of Clinical Pathology

Volumn 62, Issue 1, 2009, Pages 13-17

  Mosca, A ^a,e   Paleari, R ^a   Ivaldi, G ^b   Galanello, R ^c   Giordano, P C ^d  

^a UNIVERSITY OF MILAN   (Italy)

^b GALLIERA HOSPITAL   (Italy)

^c UNIVERSITY OF CAGLIARI   (Italy)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e Dipartimento di Scienze e Tecnologie Biomediche   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN A2;

DIAGNOSTIC ACCURACY; DISEASE CARRIER; HEMOGLOBIN ANALYSIS; HEMOGLOBIN BLOOD LEVEL; HUMAN; PRIORITY JOURNAL; REFERENCE VALUE; REVIEW; STANDARDIZATION; STORAGE; THALASSEMIA;

ALGORITHMS; BLOOD SPECIMEN COLLECTION; HEMOGLOBIN A2; HEMOGLOBINOPATHIES; HETEROZYGOTE DETECTION; HUMANS; INFANT; INFANT, NEWBORN; THALASSEMIA;

EID: 58349112100     PISSN: 00219746     EISSN: 14724146     Source Type: Journal    
DOI: 10.1136/jcp.2008.056945     Document Type: Review

References (28)

1. Kunkel HG, Wallenius G. New haemoglobin in normal adult blood. Science 1955;22:288.
2. Kunkel HG, Ceppellini R, Muller-Eberhard U, et al. Observation of the minor basic haemoglobin component in blood of normal individuals and patients with thalassaemia. J Clin Invest 1957;36:1615-25
3. Gerald PS, Diamond LK. The diagnosis of thalassaemia trait by starch block electrophoresis of haemoglobin. Blood 1958;13:61-9.
4. eatherall DJ Clegg JB. The thalassemia syndromes, 4th edn. Oxford: Blackwell Scientific, 1981.
5. aickman H Prehu C, Bardakdjian-Michau J, et al. Abnormal haemoglobin: laboratory methods. Haemoglobin 2001;25:169-81.
6. 2 reference preparation, Br J Haematol 1978:38:573-8.
7. Fucharoen S, Winichagoon P, Wisedpanichkij R, et al. Prenatal and postnatal diagnoses of thalassaemias and haemoglobinopathies by HPLC. Clin Chem 1998;44:740-8.
8. Guideline. The laboratory diagnosis of haemoglobinopathies. Br J Haematol 1998;101:783-92.
9. 2 and F. Clin Chem 1999;45:237-43.
10. 2 in the diagnosis of β thalassaemia. Am J Hematol 1991;38:214-9.
11. Ravindran MS, Patel ZM, Khatkhatay Ml, et al. Beta-thalassaaemia carrier detection by ELISA: a simple screening strategy for developing countries. J Clin Lab Anal 2005;19:22-5.
12. 2 measurement: data from an Italian pilot study with fresh whole blood samples and commercial HPLC systems, Clin Chem Lab Med 2007;45:88-92.
13. 2 borderline subjects in the screening for betathalassaemia. Bioelectrochemistry 2008;73:137-40.
14. 2 in hyperthytoridism. Haemoglobin 1981;5:571-7.
15. 2 in human immunodeficiency virus-1-infected patients treated with zidovudine. Am J Hematol 1993;43:86-90.
16. 2 percentage in HIV infection: disease or treatment? AIDS 2007;21:1207-20.
17. 2 in nutritional megaloblastic anaaemia. In J Med Res 1983;77:478-81.
18. 2 quantification by HPLC. Clin Chem 1996;42:1113-4.
19. 2, and haemoglobin F in infants heterozygous for β-thalassaemia. J Pediatr 1981;99:105-8.
20. 2 in iron-deficient β- thalassaemia heterozygotes. Haemoglobin 1981;5:613-8.
21. 2 in beta-thalassaemia trait with iron deficiency. Ann Hematol 1998;77:93-6.
22. Giordano PC. The effect of iron deficiency anaemia on the levels of haemoglobin subtypes: possible consequences for clinical diagnosis. Clin Lab Haematol 2003;25:203.
23. Burtis CA, Ashwood ER, eds. Tietz texbook of clinical chemistry. 2nd edn. Philadelphia: WB Saunders, 1994:2029.
24. Westgard QC. Desirable specifications for total error, imprecision, and bias, derived from biologic variation. http://www.westgard.com/ biodatabase1.htm (accessed 21 October 2008).
25. Van Delft P, Lenters E, Bakker-Verweij M, et al. Evaluating five dedicated automatic devices for hemoglobinopathy diagnostics in multi-ethnic populations. Int J Lab Hematol. In press.
26. 2 level; implication for beta-thalassaemia carrier screening. Am J Hematol 1994;46:79-81.
27. Giambona A, Lo Gioco P, Marino M, et al. The great heterogeneity of thalassaemia molecular defects in Sicily. Human Genetics 1995;9:526-30.
28. Thein SL. Genetic modifiers of beta-thalassaemia. Haematologica 2005;90:649-60.