Camperdown Hemoglobin Associated With β° Thalassemia In A Brazilian Child

We report the coexistence of Hb Camperdown [β 104 (G6) Arg → Ser] and β°-thalassemia [β39 (Gln → stop codon)] in a nine-month-old Brazilian boy. He had a relatively more severe hypochromic and microcytic anemia in comparison to his mother's β-thalassemia trait. His Hb Camperdown heterozygous father was clinically and hematologically normal. To our knowledge, this is the first description of an association of β°-thalassemia with Hb Camperdown. Copyright by the Brazilian Society of Genetics.283394396Araújo, A.S., Silva, W.A., Leao, S.A., Bandeira, F.C., Petrou, M., Modell, B., Zago, M.A., A different molecular pattern of β-thalassemia mutations in Northeast of Brazil (2003) Hemoglobin, 27, pp. 211-217Amone, A., X-ray diffraction study of binding of 2,3-diphosphoglycerate to human deoxyhemoglobin (1972) Nature, 237, pp. 146-149Bertuzzo, C.S., Sonati, M.F., Costa, F.F., Hematological phenotype and the type of β thalassemia mutation in Brazil (1997) Braz J Genet, 20, pp. 319-321Bianco, I., Graziani, B., Carboni, C., Genetic patterns in thalassemia intermedia (constitutional microcytic anemia). Familial hematological and biosynthetic studies (1977) Hum Hered, 27, pp. 257-272Blouquit, Y., Lacombe, C., Arous, N., Le Qurrec, A., Branconnier, F., Bonhomme, J., Soummer, A.M., Galacteros, F., Seven new cases of hemoglobin Camperdown alpha 2 beta 2 104 (G6) ARG → SER found in Malta, Sicily and Tunisia (1984) Hemoglobin, 8, pp. 613-619Chang, J.C., Kan, Y.W., β°-thalassemia, a nonsense mutation in man (1979) Proc Natl Acad Sci USA, 76, pp. 2886-2889Clarke, G.M., Higgins, T.N., Laboratory investigation of hemoglobinopathies and thalassemias: Review and update (2000) Clin Chem, 46, pp. 1284-1290Fonseca, S.F., Kerbauy, J., Escrivçao, C., Figueiredo, M.S., Cançado, R., Arruda, V.R., Saad, S.T.O., Costa, F.F., Genetic analysis of beta-thalassemia major and beta-thalassemia intermedia in Brazil (1998) Hemoglobin, 22, pp. 197-207Grignoli, C.R.E., Carvalho, M.H., Kimura, E.M., Sonati, M.F., Arruda, V.R., Saad, S.T.O., Costa, F.F., β°-thalassemia resulting from a novel mutation: β66/u → stop codon (2000) Eur J Haematol, 64, pp. 137-138Kimura, E.M., Grignoli, C.R.E., Pinheiro, V.R.P., Costa, F.F., Sonati, M.F., Thalassemia intermedia as a result of heterozygosis for β°-thallassemia and αααanti3.7/αα genotype in a Brazilian patient (2003) Braz J Med Biol Res, 36, pp. 699-701Kister, J., Barbadjian, J., Blouquit, Y., Bohn, B., Galacteros, F., Poyart, C., Inhibition of oxygen-linked anion binding in Hb Camperdown [α2β2 104 (G6) ARG → SER] (1989) Hemoglobin, 13, pp. 567-578Miranda, S.R.P., Kimura, E.M., Teixeira, R.C., Bertuzzo, C.S., Ramalho, A.A., Saad, S.T.O., Costa, F.F., Hb Camperdown [α2β2 104 (G6) ARG → SER] identified by DNA analysis in a Brazilian family (1996) Hemoglobin, 20, pp. 147-153Old, J.M., Screening arid genetic diagnosis of haemoglobin disorders (2003) Blood Rev, 17, pp. 43-53Olivieri, N.F., The β-thalassemias (1999) N Engl J Med, 341, pp. 99-109Thein, S.L., Genetic insights into the clinical diversity of beta thalassaemia (2004) Br J Haematol, 124, pp. 264-274Weatherall, D.J., Clegg, J.B., Inherited haemoglobin disorders: An increasing global health problem (2001) Bull World Health Organ, 79, pp. 704-712Wilkinson, T., Chua, C.G., Carrell, R.W., Robin, H., Exner, T., Lee, K.M., Kronenberg, H., Haemoglobin Camperdown β 104(G6) Arginine leads to serine (1975) Biochim Biophys Acta, 393, pp. 195-200Zago, M.A., Costa, F.F., Hereditary hemoglobin disorders in Brazil (1985) Trans R Soc Trop Med Hyg, 79, pp. 385-38

The Clinical Laboratory In The Investigation Of Hemoglobin Disorders [o Laboratório Clínico Na Investigação Dos Distúrbios Da Hemoglobina]

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.473271278Ayala, 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. 639-644Beard, 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.xBissé, 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. 55-59Burtis, C.A., Ashwood, E.R., (2006) Tietz Textbook of Clinical Chemistry and Molecular Diagnostics, , Elsevier SaundersClark, 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.xClarke, G.M., Higgins, T.N., Laboratory investigation of hemoglobinopathies and thalassemias: Review and update (2000) Clinical Chemistry, 46, pp. 1284-1290. , 8 IIColah, 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/s12098-007-0117-8De 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 S1570963907001884England, J.M., Frase, P.M., Differentiation of iron deficiency from thalassaemia trait by routine bloodcount (1973) Lancet, 1, pp. 449-452Greer, J.P., Foerster, J., (2008) Wintrobe's Clinical Hematology, , Lippincott Williams & WilkinsKohne, E., Kleihauer, E., Hemoglobinopathies: A longitudinal study over four decades (2010) Dtsch Arztebl Int, 107 (5), pp. 65-71Lewis, S.M., Bain, B.J., Hematologia prática de Dacie e Lewis (2006) ArtmedMcPherson, R.A., Pincus, M.R., (2007) Henry's Clinical Diagnosis and Management by Laboratory Methods, , Elsevier SaundersSchechter, A.N., Hemoglobin research and the origins of molecular medicine (2008) Blood, 112 (10), pp. 3927-338Storti-Melo, L.M., Mangonaro, P.H., Three-dimensional visualization of human hemoglobin phenotypes with HPLC (2009) Genet Mol Res, 8 (1), pp. 354-363Trent, R.J.A., Diagnosis of the haemoglobinopathies (2006) Clin Biochem Rev, 27 (1), pp. 27-38Yates, A.M., Mortier, N.A., The diagnostic dilemma of congenital unstable hemoglobinopathies (2010) Pediatr Blood Cancer, 55, pp. 1393-1395Zanella-Cleon, I., Joly, P., Phenotype determination of hemoglobinopathies by mass spectrometry (2009) Clin Biochem, 42, pp. 1807-181