Heterocellular hereditary persistence of fetal haemoglobin affects the haematological parameters of β-thalassaemia trait

British Journal of Haematology

Volumn 123, Issue 2, 2003, Pages 353-358

  Garner, Chad ^a   Dew, Tracy K ^b   Sherwood, Roy ^b   Rees, David ^b   Thein, Swee Lay ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b KING S COLLEGE HOSPITAL   (United Kingdom)

Author keywords

thalassaemia screening; Heterocellular hereditary persistence of fetal haemoglobin

Indexed keywords

HEMOGLOBIN A2; HEMOGLOBIN F; HEMOGLOBIN GAMMA CHAIN;

ALLELIC IMBALANCE; ARTICLE; BETA THALASSEMIA; CONTROLLED STUDY; ERYTHROPOIESIS; FAMILIAL DISEASE; GENE FREQUENCY; GENETIC SCREENING; GENETIC VARIABILITY; HEMOGLOBIN DETERMINATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MEAN CORPUSCULAR HEMOGLOBIN; MEDICAL ASSESSMENT; MORPHOLOGICAL TRAIT; PRIORITY JOURNAL;

ADOLESCENT; ADULT; ANALYSIS OF VARIANCE; BETA-THALASSEMIA; CHILD; ERYTHROCYTE INDICES; FEMALE; FETAL HEMOGLOBIN; GENOTYPE; HEMOGLOBIN A2; HEMOGLOBINOPATHIES; HETEROZYGOTE; HUMANS; MALE; MASS SCREENING; PHENOTYPE;

EID: 0142184370     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2003.04600.x     Document Type: Article

References (27)

1. Cao, A.R., Galanello & Rosatelli (1998) Prenatal diagnosis and screening of the haemoglobinopathies. In: Baillière's Clinical Haematology; Sickle Cell Disease and Thalassaemia (ed. by G.P. Rodgers), pp. 215-238. Baillière Tindall, London.
2. Cao, A.M.C., Rosatelli & Eckman (2001) Prenatal diagnosis and screening for thalassemia and sickle cell disease. In: Disorders of Hemoglobin; Genetics, Pathophysiology and Clinical Management (ed. by M.H. Steinberg, B.C. Forget, D.R. Higgs & R.L. Nagel), pp. 958-978. Cambridge University Press, Cambridge.
3. Craig, J.E., Rochette, J., Fisher, C.A., Weatherall, D.J., Marc, S., Lathrop, G.M., Demenais, F. & Thein, S.L. (1996) Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approach. Nature Genetics, 12, 58-64.
4. Galanello, R., Melis, M.A., Ruggeri, R., Addis, M., Scalas, M.T., Maccioni, L., Furbetta, M., Angius, A., Tuveri, T. & Cao, A. (1979) Beta 0 thalassemia trait in Sardinia. Hemoglobin, 3, 33-46.
5. Galanello, R., Barella, S., Ideo, A., Gasperini, D., Rosatelli, C., Paderi, L., Paglietti, E., Sollaino, C., Perseu, L., Loi, D. & Cao, A. (1994) Genotype of subjects with borderline hemoglobin A2 levels: implication for beta-thalassemia carrier screening. American Journal of Hematology, 46, 79-81.
6. Garner, C., Mitchell, J., Hatzis, T., Reittie, J., Farrell, M. & Thein, S.L. (1998) Haplotype mapping of a major QTL for fetal hemoglobin production on chromosome 6q23. American Journal of Human Genetics, 62, 1468-1474.
7. Gonzalez-Redondo, J.M., Stoming, T.A., Kutlar, A., Kutlar, F., Lanclos, K.D., Howard, E.F., Fei, Y.J., Aksoy, M., Altay, C., Gurgey, A., Basak, A.N., Efremov, G.D., Petkov, G. & Huisman, T.H.J. (1989) A C → T substitution at nt -101 in a conserved DNA sequence of the promoter region of the β-globin gene is associated with 'silent' β-thalassemia. Blood, 73, 1705-1711.
8. Huebers, H.A., Beguin, Y., Pootrakul, P., Einspahr, D. & Finch, C.A. (1990) Intact transferrin receptors in human plasma and their relation to erythropoiesis. Blood, 75, 102-107.
9. 2 in heterozygotes and homozygotes for beta-thalassemia mutations: Influence of mutations in the CACCC and ATAAA motifs of the beta-globin gene promoter. Acta Haematologica, 98, 187-194.
10. Kanavakis, E., Wainscoat, J.S., Wood, W.G., Weatherall, D.J., Cao, A., Furbetta, M., Galanello, R., Georgiou, D. & Sophocleous, T. (1982) The interaction of alpha thalassaemia with heterozygous beta thalassaemia. British Journal of Haematology, 52, 465-473.
11. Knox-Macaulay, H.H., Weatherall, D.J., Clegg, J.B. & Pembrey, M.E. (1973) Thalassaemia in the British. British Medical Journal, 3, 150-155.
12. Malamos, B., Fessas, P. & Stamatoyannopoulos, G. (1962) Types of thalassaemia-trait carriers as revealed by a study of their incidence in Greece. British Journal of Haematology, 8, 5.
13. Mazza, U., Saglio, G., Cappio, F.C., Camaschella, C., Neretto, G. & Gallo, E. (1976) Clinical and haematological data in 254 cases of beta-thalassaemia trait in Italy. British Journal of Haematology, 33, 91-99.
14. Melis, M.A., Pirastu, M., Galanello, R., Furbetta, M., Tuveri, T. & Cao, A. (1983) Phenotypic effect of heterozygous alpha and beta 0-thalassemia interaction. Blood, 62, 226-229.
15. Millard, D.P., Mason, K., Serjeant, B.E. & Serjeant, G.R. (1977) Comparison of haematological features of the beta0 and beta+ thalassaemia traits in Jamaican Negroes. British Journal of Haematology, 36, 161-170.
16. Pearson, H.A. (1960) Erythrokinetic studies in thalassemia trait. Journal of Laboratory and Clinical Medicine, 56, 866-872.
17. Pootrakul, P., Wasi, P. & Na-Nakorn, S. (1973) Haematological data in 312 cases of β-thalassaemia trait in Thailand. British Journal of Haematology, 24, 703-712.
18. Rosatelli, C., Falchi, A.M., Scalas, M.T., Tuveri, T., Furbetta, M. & Cao, A. (1984) Hematological phenotype of the double heterozygous state for alpha and beta thalassemia. Hemoglobin, 8, 25-35.
19. Rund, D., Filon, D., Strauss, N., Rachmilewitz, E.A. & Oppenheim, A. (1991) Mean corpuscular volume of heterozygotes for β-thalassemia correlates with the severity of mutations. Blood, 79, 238-243.
20. Sharpe, J.A. & Wood (1989) Haemoglobin analysis. In: Laboratory Haematology (ed. by I. Chanarin), pp. 33-54. Churchill Livingstone, Edinburgh.
21. Thein, S.L. (1998) Beta thalassaemia. In: Baillière's Clinical Haematology. Sickle Cell Disease and Thalassaemia (ed. by G.P. Rodgers), pp. 91-126. Baillière Tindall, London.
22. Thein, S.L.A., Ehsani & Wallace (1993) The use of synthetic oligonucleotides as specific hybridization probes in the diagnosis of genetic disorders. In: Human Genetic Disease Analysis: a Practical Approach (ed. by K.E. Davies), pp. 21-33. IRL Press, Oxford.
23. Thein, S.L., Sampietro, M., Rohde, K., Rochette, J., Weatherall, D.J., Lathrop, G.M. & Demenais, F. (1994) Detection of a major gene for heterocellular hereditary persistence of fetal hemoglobin after accounting for genetic modifiers. American Journal of Human Genetics, 54, 214-228.
24. Thorpe, S.J., Thein, S.L., Sampietro, M., Craig, J.E., Mahon, B. & Huehns, E.R. (1994) Immunochemical estimation of haemoglobin types in red blood cells by FACS analysis. British Journal of Haematology, 87, 125-132.
25. Weatherall, D.J. & Clegg, J.B. (2001) The Thalassaemia Syndromes. 4th edn. Blackwell Science, Oxford.
26. Wood, W.G., Weatherall, D.J. & Clegg, J.B. (1976) Interaction of heterocellular hereditary persistence of foetal haemoglobin with β thalassaemia and sickle cell anaemia. Nature, 264, 247-249.
27. Wood, W.G., Weatherall, D.J., Clegg, J.B., Hamblin, T.J., Edwards J.H. & Barlow, A.M. (1977) Heterocellular hereditary persistence of fetal haemoglobin (heterocellular HPFH) and its interaction with β thalassaemia. British Journal of Haematology, 36, 461.