Artículos de revistas
The Clinical Laboratory In The Investigation Of Hemoglobin Disorders [o Laboratório Clínico Na Investigação Dos Distúrbios Da Hemoglobina]
Registro en:
Jornal Brasileiro De Patologia E Medicina Laboratorial. , v. 47, n. 3, p. 271 - 278, 2011.
16762444
10.1590/S1676-24442011000300010
2-s2.0-80051948125
Autor
De Almeida L.P.
Wengerkievicz A.C.
Viviani N.M.
De Albuquerque D.M.
Mendes M.E.
Sumita N.M.
Institución
Resumen
Defective synthesis of hemoglobin gives rise to a group of hereditary disorders. If the defect arises from a genetic mutation producing abnormal protein chains, the condition is classified as hemoglobin variant. Whereas, if the structure is normal but the synthesis is reduced, they are denominated as thalassaemia. This article aims to describe the laboratory diagnostic approach in four cases of hemoglobin disorders in order to illustrate the role of laboratories and discuss the role of clinical pathologists as a link between physicians and laboratories in diagnostic clarification. 47 3 271 278 Ayala, S., Colomer, D., Pujades, A., Aymerich, M., Vives Corrons, J.Ll., Haemoglobin Lleida: A new α2-globin variant (12 bp deletion) with mild thalassaemic phenotype (1996) British Journal of Haematology, 94 (4), pp. 639-644 Beard, M.E.J., Potter, H.C., Spearing, R.L., Brennan, S.O., Haemoglobin Pierre-Benite - A high affinity variant associated with relative polycythaemia (2001) Clinical and Laboratory Haematology, 23 (6), pp. 407-409. , DOI 10.1046/j.1365-2257.2001.00350.x Bissé, E., Schaeffer, C., Haemoglobin Noah Mehmet Oeztuerk (alpha(2) delta(2)143 (h21)his→tyr. A novel delta-chain variant in the 2,3-dpg binding site (2008) J Chromatogr B Analyt Technol Biomed Life Sci, 871 (1), pp. 55-59 Burtis, C.A., Ashwood, E.R., (2006) Tietz Textbook of Clinical Chemistry and Molecular Diagnostics, , Elsevier Saunders Clark, B.E., Thein, S.L., Molecular diagnosis of haemoglobin disorders (2004) Clinical and Laboratory Haematology, 26 (3), pp. 159-176. , DOI 10.1111/j.1365-2257.2004.00607.x Clarke, G.M., Higgins, T.N., Laboratory investigation of hemoglobinopathies and thalassemias: Review and update (2000) Clinical Chemistry, 46, pp. 1284-1290. , 8 II Colah, R.B., Surve, R., Sawant, P., D'Souza, E., Italia, K., Phanasgaonkar, S., Nadkarni, A.H., Gorakshakar, A.C., HPLC studies in hemoglobinopathies (2007) Indian Journal of Pediatrics, 74 (7), pp. 657-662. , DOI 10.1007/s12098-007-0117-8 De Rosa, M.C., Alinovi, C.C., Schinina, M.E., Clementi, M.E., Amato, A., Cappabianca, M.P., Pezzotti, M., Giardina, B., Hb Santa Clara (β97His → Asn), a human haemoglobin variant: Functional characterization and structure modelling (2007) Biochimica et Biophysica Acta - Proteins and Proteomics, 1774 (10), pp. 1299-1306. , DOI 10.1016/j.bbapap.2007.08.004, PII S1570963907001884 England, J.M., Frase, P.M., Differentiation of iron deficiency from thalassaemia trait by routine bloodcount (1973) Lancet, 1, pp. 449-452 Greer, J.P., Foerster, J., (2008) Wintrobe's Clinical Hematology, , Lippincott Williams & Wilkins Kohne, E., Kleihauer, E., Hemoglobinopathies: A longitudinal study over four decades (2010) Dtsch Arztebl Int, 107 (5), pp. 65-71 Lewis, S.M., Bain, B.J., Hematologia prática de Dacie e Lewis (2006) Artmed McPherson, R.A., Pincus, M.R., (2007) Henry's Clinical Diagnosis and Management by Laboratory Methods, , Elsevier Saunders Schechter, A.N., Hemoglobin research and the origins of molecular medicine (2008) Blood, 112 (10), pp. 3927-338 Storti-Melo, L.M., Mangonaro, P.H., Three-dimensional visualization of human hemoglobin phenotypes with HPLC (2009) Genet Mol Res, 8 (1), pp. 354-363 Trent, R.J.A., Diagnosis of the haemoglobinopathies (2006) Clin Biochem Rev, 27 (1), pp. 27-38 Yates, A.M., Mortier, N.A., The diagnostic dilemma of congenital unstable hemoglobinopathies (2010) Pediatr Blood Cancer, 55, pp. 1393-1395 Zanella-Cleon, I., Joly, P., Phenotype determination of hemoglobinopathies by mass spectrometry (2009) Clin Biochem, 42, pp. 1807-1817