Clinical and molecular analysis of haemoglobin H disease in Sardinia: Haematological, obstetric and cardiac aspects in patients with different genotypes

British Journal of Haematology

Volumn 136, Issue 2, 2007, Pages 326-332

  Origa, R ^a   Sollaino, M C ^a   Giagu, N ^a   Barella, S ^a   Campus, S ^a   Mandas, C ^a   Bina, P ^a   Perseu, L ^b   Galanello, R ^a  

^a UNIVERSITY OF CAGLIARI   (Italy)

^b CNR   (Italy)

Author keywords

Anaemia; Haemoglobin H disease; Heart function; Iron overload; Pregnancy

Indexed keywords

DEFEROXAMINE; FERRITIN; HEMOGLOBIN H;

ADOLESCENT; ADULT; AGED; APLASTIC ANEMIA; ARTICLE; CHILD; CHOLELITHIASIS; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE SEVERITY; EARLY DIAGNOSIS; ERYTHROCYTE TRANSFUSION; FEMALE; FERRITIN BLOOD LEVEL; GENE DELETION; GENETIC ANALYSIS; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; GROUPS BY AGE; HEART FUNCTION; HEMATOLOGICAL PARAMETERS; HEMOGLOBIN H DISEASE; HEMOGLOBINOPATHY; HEMOLYTIC ANEMIA; HUMAN; INFANT; IRON OVERLOAD; ITALY; MAJOR CLINICAL STUDY; MALE; MARRIED WOMAN; NEWBORN; OBSTETRICS; PARVOVIRUS INFECTION; PATIENT MONITORING; PREGNANCY; PRIORITY JOURNAL; SEX DIFFERENCE;

ADOLESCENT; ADULT; AGED; ALPHA-THALASSEMIA; ANEMIA, APLASTIC; BLOOD TRANSFUSION; CHI-SQUARE DISTRIBUTION; CHILD; CHILD, PRESCHOOL; ECHOCARDIOGRAPHY; FEMALE; FERRITINS; GENE DELETION; GENOTYPE; HEMOGLOBIN H; HUMANS; INFANT; INFANT, NEWBORN; IRON OVERLOAD; ITALY; MALE; MIDDLE AGED; PARVOVIRIDAE INFECTIONS; PARVOVIRUS B19, HUMAN; PHENOTYPE; POLYMERASE CHAIN REACTION; PREGNANCY; PREGNANCY COMPLICATIONS; TRANSFERRIN;

EID: 33845878540     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2006.06423.x     Document Type: Article

References (33)

1. Bosma, P.J., Chowdhury, J.R., Bakker, C., Gantla, S., De Boer, A., Oostra, B.A., Lindhout, D., Tytgat, G.N.J., Jansen, P.L.M., Elferink, R.P.J.O. & Chowdhury, N.R. (1995) The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. The New England Journal of Medicine, 333, 1171-1175.
2. Brissot, P., Bourel, M., Herry, D., Verger, J.P., Messner, M., Beaumont, C. Regnouard, F., Ferrand, B. & Simon, M. (1981) Assessment of liver iron content in 271 patients: a re-evaluation of direct and indirect methods. Gastroenterology, 80, 557-565.
3. Chen, F.E., Ooi, C., Ha, S.Y., Cheung, B.M., Todd, D., Liang, R., Chan, T.K. & Chan, V. (2000) Genetic and clinical features of haemoglobin H disease in Chinese patients. The New England Journal of Medicine, 343, 544-550.
4. Chui, D.H.K., Fucharoen, S. & Chan, V. (2003) Haemoglobin H disease: not necessarily a benign disorder. Blood, 101, 791-800.
5. Desmet, V.J., Gerber, M., Hoofnagle, J.H. & Scheuer, P.J. (1994) Classification of chronic hepatitis: diagnosis, grading and staging. Hepatology, 19, 1513-1520.
6. Fiorelli, G., Fargion, S., Piperno, A., Battafarano, N. & Cappellini, M.D. (1990) Iron metabolism in thlassaemia intermedia. Haematologica, 75, 89-95.
7. Galanello, R., Pirastu, M., Melis, M.A., Paglietti, E., Moi, P. & Cao, A. (1983) Phenotype-genotype correlation in haemoglobin H disease in childhood. Journal of Medical Genetics, 20, 425-429.
8. Galanello, R., Sollaino, C., Paglietti, E., Barella, S., Perra, C., Doneddu, I., Pirrone, M.G., Maccioni. L. & Cao, A. (1998) α-Thlassaemia carrier identification by DNA analysis in the screening for thalassaemia. American Journal of Hematology, 59, 273-278.
9. Higgs, D.R. (2001) Molecular mechanisms of α-thlassaemia. In: Disorders of Haemoglobin; Genetics, Pathophysiology, and Clinical Management (ed. by M.H. Steinberg, B.G. Forget, D.R. Higgs & R.L. Nagel), pp. 405-430. Cambridge University Press, Cambridge, UK.
10. Higgs, D.R. & Bowden, D.K. (2001) Clinical and laboratory features of the α-thlassaemia syndromes. In: Disorders of Haemoglobin; Genetics, Pathophysiology, and Clinical Management (ed. by M.H. Steimberg, B.G. Forget, D.R. Higgs & R.L. Nagel), pp. 431-469. Cambridge University Press, Cambrige, UK.
11. Hsu, H.-C., Lin, C.-K., Tsay, S.H., Tse, E., Ho, C.H., Chow, M.P., Yung, C.H. & Peng, H.W. (1990) Iron overload in Chinese patients with haemoglobin H disease. American Journal of Hematology, 34, 287-290.
12. Kanavakis, E., Papassotiriou, I., Karagiorga, M., Vrettou, C., Metaxotou-Mavrommati, A., Stamoulakatou, A., Kattamis, C. & Traeger-Synodinos, J. (2000) Phenotypic and molecular diversity of haemoglobin H disease: a Greek experience. British Journal of Haematology, 111, 915-923.
13. Kitabatake, A., Inoue, M., Asao, M., Tanouchi, J., Masuyama, T., Abe, H., Morita, H., Senda, S. & Matsuo, H. (1982) Transmitral blood flow reflecting diastolic behavior of the left ventricle in health and disease: a study by pulsed Doppler technique. Japanese Circulation Journal, 40, 92-102.
14. Konus, O.L., Ozdemir, A., Akkaya, A., Erbas, G., Celik, H. & Isik, S. (1998) Normal liver, spleen, and kidney dimensions in neonates, infants, and children: evaluation with sonography. American Journal of Roentgenology, 171, 1693-1698.
15. 2- locus in mRNA and protein synthesis. Journal of Biological Chemistry, 261, 15327-15333.
16. Lin, C.K., Peng, H.W., Ho, C.H. & Yung, C.H. (1990) Iron overload in untransfused patients with haemoglobin H disease. Acta Haematogica, 83, 137-139.
17. Lorey, F., Cunningham, G., Vichinsky, E.P., Lubin, B.H., Witkowska, H.E., Matsunaga, A., Azimi, M., Sherwin, J., Eastman, J., Farina, F., Waye, J.S. & Chui, D.H. (2001) Universal newborn screening for Hb H disease in California. Genetic Testing, 5, 93-100.
18. Moi, P., Cash, F.E., Liebhaber, S.A., Cao, A., Pirastu, M. (1987) An initiation codon mutation (AUG → GUG) of the human α1-globin gene. Journal of Clinical Investigation, 80, 1416-1421.
19. Mosca, A., Paleari, R., Rosti, E., Luzzana, M., Barella, S., Sollaino, C. & Galanello, R. (1996) Simultaneous automated determination of glucose 6-phosphate dehydrogenase and 6-phosphogluconate dehydrogenase activities in whole blood. European Journal of Clinical Chemistry and Clinical Biochemistry, 34, 431-438.
20. Orkin, S.H., Goff, S.C. & Hechtman, R.L. (1981) Mutation in a interverting sequence splice junction in man. Proceedings of the National Academy of Sciences of the United States of America, 78, 5041-5045.
21. Papassotirious, I., Traeger-Syndinos, J., Kanavakis, E., Karagiorga, M., Stamoulakatou, A. & Kattamis, C. (1998) Erythroid marrow activity and haemoglobin H levels in haemoglobin H disease. Journal of Pediatric Hematology/Oncology, 20, 539-544.
22. Park, S.H., Shub, C., Nobrega, T.P., Bailey, K.R. & Seward, J.B. (1996) Two-dimensional echocardiographic calculation of left ventricular mass as recommended by the American Society of Echocardiography: correlation with autopsy and M-mode echocardiography. Journal of the American Society of Echocardiography, 2, 119-128.
23. Pirastu, M., Saglio, G., Chang, J.C., Cao, A. & Kan, Y.W. (1984) Initiation codon mutation as a cause of α-thlassaemia. Journal of Biological Chemistry, 259, 1235-1237.
24. Pootrakul, P., Sirankapracha, P., Hemsorach, S., Moungsub, W., Kumbunlue, R., Piangitjagum, A., Wasi, P., Ma, L. & Schrier, S.L. (2000) A correlation of erythrokinetics, ineffective erythropoiesis, and erythroid precursor apoptosis in Thai patients with thlassaemia. Blood, 96, 2606-2612.
25. Romao, L., Cash, F., Weiss, I., Liebhaber, S., Pirastu, M., Galanello, R., Loi, A., Paglietti, E., Ioannou, P. & Cao, A. (1992) Human alphaglobin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3′ of the zeta-globin gene. Human Genetics, 89, 323-328.
26. Rother, R.P., Bell, L., Hillmen, P. & Gladwin, M.T. (2005) The clinical sequelae of intravascular hemolysis and extracellular plasma haemoglobin. The Journal of the American Medical Association, 293, 1653-1662.
27. Sabbadini, L. & Sebastiani, G. (2002) Il Percorso della Maternità: Gravidanza, parto e Allattamento al Seno, p. 23. ISTAT (Istituto Nazionale di Statistica), Rome, Italy.
28. Schiller, N.B. (1990) Pulmonary artery pressure estimation by Doppler and two-dimensional echocardiography. Cardiology Clinics, 8, 277-287.
29. Schiller, N.B., Shah, P.M., Crawford, M., DeMaria, A., Devereux, R., Feigenbaum, H., Gutgesell, H., Reichek, N., Sahn, D. & Schnittger, I. (1989) Recommendations for quantitation of the left ventricle by two-dimensional echocardiography: American Society of Echocardiography Committee on Standards, Subcommittee on Quantitation of Two-Dimensional Echocardiograms. Journal of the American Society of Echocardiography, 2, 358-367.
30. Vaeusorn, O., Fucharoen, S. & Wasi, P. (1988) A study of thlassaemia associated with pregnancy. Birth Defects Original Article Series, 23, 295-299.
31. Wasi, P., Na-Nakorn, S. & Pootrakul, S.-N. (1974) The α thlassaemias. Clinics in Haematology, 3, 383-410.
32. Waye, J.S., Eng, B., Patterson, M., Waye, J.S., Eng, B., Patterson, M., Carcao, M.D., Olivieri, N.F. & Chui, D.H.K. (2001) Haemoglobin H (Hb H) disease in Canada: molecular diagnosis and review of 116 cases. American Journal of Hematology, 68, 11-15.
33. World Health Organization Working Group (1986) Use and interpretation of anthropometric indicators of nutritional status. Bulletin of the World Health Organization, 643, 929-941.