The relevance of hemoglobin F measurement in the diagnosis of thalassemias and related hemoglobinopathies

Clinical Biochemistry

Volumn 42, Issue 18, 2009, Pages 1797-1801

  Mosca, Andrea ^a   Paleari, Renata ^a   Leone, Daniela ^b   Ivaldi, Giovanni ^b  

^a UNIVERSITY OF MILAN   (Italy)

^b GALLIERA HOSPITAL   (Italy)

Author keywords

Beta thalassemia; Diagnosis; Hemoglobin F

Indexed keywords

DNA; HEMOGLOBIN CHAIN; HEMOGLOBIN F;

ARTICLE; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DISEASE MARKER; DNA SEQUENCE; GLOBIN GENE; HEMOGLOBINOPATHY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; IRON DEFICIENCY ANEMIA; IRON METABOLISM; LEUKEMIA; NORMAL VALUE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DETERMINATION; PROTEIN EXPRESSION; PROTEIN INDUCTION; PROTEIN SYNTHESIS; RELIABILITY; STANDARDIZATION; THALASSEMIA;

FETAL HEMOGLOBIN; HUMANS; LABORATORY TECHNIQUES AND PROCEDURES; THALASSEMIA;

EID: 70449732563     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2009.06.023     Document Type: Article

References (36)

1. Weatherall, and Clegg J.B. The Thalassaemia Syndromes. 4th ed. (1981), Blackwell Scientific Publication, Oxford
2. Birgens H., and Ljung R. The thalassemia syndromes. Scan. J. Clin. Lab. Invest. 67 (2007) 11-26
3. Franco R.S., Yasin Z., Palascak M.B., Ciraolo P., Jointer C.H., and Rucknagel D.L. The effect of fetal hemoglobin on the survival characteristics of sickle cells. Blood 108 3 (2006) 1073-1076
4. 2. Blood 75 (1990) 2070-2075
5. Papassotiriou I., Ducrocq R., Prehu C., Bardakdjian-Michau J., and Wajcman H. Gamma chains heterogeneity: determination of HbF composition by perfusion chromatography. Hemoglobin 22 (1998) 469-481
6. Efremov G.D., Dimovski A.J., Popovski Z., et al. The gamma-globin gene rearrangements in newborns from the Republic of Macedonia. Hemoglobin 20 (1996) 401-414
7. Garlick R.L., Mazer J.S., Himelstein A.L., Stamatoyannopoulos G., and Shaeffer J. Acetylation of human hemoglobin occurs throughout erythroid cell maturation. Biochim. Biophys. Acta 799 (1984) 29-37
8. Kasten-Jolly J., and Abraham E.C. Heterogeneity in the globin chain composition of a human minor fetal hemoglobin component. Biochim. Biophys. Acta 829 (1985) 6-12
9. Schechter A.N. Hemoglobin research and origins of molecular medicine. Blood 112 (2008) 3927-3938
10. Platt O.S. Hydroxyurea for the treatment of sickle cell anemia. N. Engl. J. Med. 358 (2008) 1362-1369
11. Betke K., Marti H.R., and Schlicht I. Estimation of small percentages of foetal hemoglobin. Nature 184 (1959) 1877-1878
12. Perutz M.F. Mechanism of denaturation of haemoglobin by alkali. Nature 247 (1974) 341-344
13. Pembrey M.E., McWade P., and Weatherall D.J. Reliable routine estimation of small amounts of foetal hemoglobin by alkali denaturation. J. Clin. Pathol. 25 (1972) 738-740
14. Fucharoen S., Winichagoon P., Wisedpanichkiy B.S.N., et al. Prenatal and postnatal diagnoses of thalassaemias and hemoglobinopathies by HPLC. Clin. Chem. 44 (1998) 740-748
15. Guideline. The laboratory diagnosis of hemoglobinopathies. Br. J. Haematol. 101 (1998) 783-792
16. 2 and F. Clin. Chem. 45 (1999) 237-243
17. Davidson A., Green B.N., and Roberts N.B. Fetal hemoglobin: assessment of glycation and acetylation status by electrospray ionization mass spectrometry. Clin. Chem. Lab. Med. 46 (2008) 1230-1238
18. Kleinert P., Schmid M., Zurbriggen K., et al. Mass spectrometry: a tool for enhanced detection of hemoglobin variants. Clin. Chem. 54 (2008) 69-76
19. Kleihauer E., Braun H., and Betke K. Demonstration von fetalem hämoglobin in den erythrocyten eines blutausstrichs. Klin. Wochenschr. 35 (1957) 637-638
20. Janssen W.C.M., and Hoffmann J.J.M.L. Evaluation of flow cytometric enumeration of foetal erythrocytes in maternal blood. Clin. Lab. Haem. 24 (2002) 89-92
21. Shiao S.Y.P., and OU C.N. Accurate measurements of fetal hemoglobin for neonates with different gestational ages. Hemoglobin 30 (2006) 419-435
22. 0-thalassemia. Hemoglobin 30 (2006) 871-877
23. Huisman T.H.J. Gamma chain abnormal fetal hemoglobin variants. Am. J. Hematol. 55 (1997) 159-163
24. Miller B.A., Salameh M., Ahmed M., et al. Progress in Clinical and Biological Research. In: Stamatoyannopoulos G., and Nienhuis A.W. (Eds). Developmental Control of Globin Gene Expression 251 (1987), Alan R. Liss, Inc., New York 415
25. Mohamedi S., Sinzinger H., and Schneider K. Hereditary spherocytosis. Studies of erythrocyte enzymes and fetal hemoglobin before and after splenectomy. Acta Medica Austriaca 3 (1976) 16-19
26. Rees D.C. Hemoglobin F and hemoglobin E/β-thalassemia. J. Pediatr. Hematol. Oncol. 22 (2000) 567-572
27. Weatherall D.J., Clegg J.B., Wood W.G., et al. Foetal erythropoiesis in human leukaemia. Nature 257 (1975) 710-712
28. Rautonen J., and Siimes M.A. Initial blood fetal hemoglobin concentration is elevated and is associated wtih prognosis in children with acute lymphoid or myeloid leukemia. Blut 61 (1990) 17-20
29. Gumruk F., Tavil B., Balta G., Unal S., and Gurgey A. Significance of fetal hemoglobin values in detection of heterozygotes in Fanconi anemia: reevaluation of fetal hemoglobin values by a sensitive method. J. Pediatr. Hematol. Oncol. 30 (2008) 896-899
30. Rassiga-Pidot A.L., Cornwell III G.G., and McIntyre O.R. Paroxysmal nocturnal hemoglobinuria with elevated fetal hemoglobin. Blood 43 (1974) 233-238
31. Prehu C., Ducrocq R., Godart C., Riou J., and Galacteros F. Determination of Hb F levels: the routine methods. Hemoglobin 22 (1998) 459-467
32. Tietz N.W. Clinical Guide to Laboratory Tests. Second edition (1990), W.B. Saunders Company, Philadelphia 214
33. http://www.westgard.com/biodatabase1.htm, access tested in date 28 April 2008.
34. Ivaldi G., Leone D., Viaggi C., and Pascotto D. Variabilità delle frazioni emoglobiniche dalla nascita all'età adulta in condizioni fisiologiche e patologiche. Biochim. Clin. 31 (2007) 276-277
35. Uda M., Galanello R., Sanna S., et al. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia. Proc. Natl. Acad. Sci. U. S. A. 105 (2008) 1620-1625
36. Mosca A., Paleari R., Ivaldi G., Galanello R., and Giordano P.C. The role of haemoglobin A2 testing in the diagnosis of thalassaemias and related haemoglobinopathies. J. Clin. Pathol. 62 (2008) 13-17