Search Results - "GIORDANO, P. C."

Starting neonatal screening for haemoglobinopathies in The Netherlands by Giordano, P C

“…Neonatal screening for haemoglobinopathies started in The Netherlands on 1 January 2007. The method of choice, high-performance liquid chromatography, and the…”
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Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and β-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification by Harteveld, C L, Voskamp, A, Phylipsen, M, Akkermans, N, den Dunnen, J T, White, S J, Giordano, P C

“…Background: Approximately 80% of the α- and 10% of the β-thalassaemias are caused by genomic deletions involving the α- and β-globin gene clusters on…”
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Newborn screening for hemoglobinopathies using capillary electrophoresis technology: Testing the Capillarys® Neonat Fast Hb device by Mantikou, E., Harteveld, C.L., Giordano, P.C.

“…To diagnose hemoglobinopathies in newborns by separating and measuring the Hb fractions on high throughput capillary electrophoresis. To test and validate the…”
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Strategies for basic laboratory diagnostics of the hemoglobinopathies in multi-ethnic societies: interpretation of results and pitfalls by Giordano, P. C.

“…Summary The consistent multi‐ethnic migrations of the last decades have considerably changed the epidemiology of the hemoglobinopathies. Healthy carriers of…”
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One-third of the new paediatric patients with sickle cell disease in The Netherlands are immigrants and do not benefit from neonatal screening by Peters, M, Fijnvandraat, K, van den Tweel, X W, Garre, F G, Giordano, P C, van Wouwe, J P, Pereira, R R, Verkerk, P H

“…Objectives To estimate the prevalence of children with sickle cell disease (SCD) in The Netherlands. To estimate the annual number of children newly diagnosed…”
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Molecular spectrum of α‐thalassemia in the Iranian population of Hormozgan: Three novel point mutation defects by Harteveld, C.L., Yavarian, M., Zorai, A., Quakkelaar, E.D., van Delft, P., Giordano, P.C.

“…We describe the molecular spectrum of α‐thalassemia mutations in a population sample of newborns in the South‐Iranian province of Hormozgan. Out of 660…”
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Prevention strategies for severe hemoglobinopathies in endemic and nonendemic immigration countries: the Latium example by Amato, A., Grisanti, P., Lerone, M., Ponzini, D., Di Biagio, P., Cappabianca, M. P., Giordano, P. C.

“…Objective To review prevention data for hemoglobinopathies from Latium, a large Italian region with a considerable immigrant population and with a…”
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The role of haemoglobin A(2) testing in the diagnosis of thalassaemias and related haemoglobinopathies by Mosca, A, Paleari, R, Ivaldi, G, Galanello, R, Giordano, P C

“…The increase in haemoglobin (Hb)A(2) level is the most significant parameter in the identification of beta thalassaemia carriers. However, in some cases the…”
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Diagnosis and management of thalassaemia by Peters, M, Heijboer, H, Smiers, F, Giordano, P C

“…SUMMARY POINTS The changing demographic features of thalassaemia, with its widely variable phenotypes, have implications for diagnosis, counselling, and…”
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Carrier diagnostics and prevention of hemoglobinopathies in early pregnancy in The Netherlands: a pilot study by Giordano, P. C., Plancke, A., Van Meir, C. A., Janssen, C. A. H., Kok, P. J. M. J., Van Rooijen-Nijdam, I. H., Tanis, B. C., van Huisseling, J. C. M., Versteegh, F. G. A.

“…Background We have offered, for the first time in The Netherlands, carrier diagnostics for hemoglobinopathies (HbP) to early pregnant women. The aim of this…”
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A new deletion defect leading to α‐thalassaemia in a large Dutch Caucasian family by Nooitgedagt, J. E., Harteveld, C. L., Starreveld, J. S., Versteegh, F. G. A., Giordano, P. C.

“…Summary α‐thalassaemia is a common inherited haemoglobin disorder that can cause only mild symptoms in carriers and is often either not diagnosed or mistaken…”
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Evaluating five dedicated automatic devices for haemoglobinopathy diagnostics in multi-ethnic populations by VAN DELFT, P., LENTERS, E., BAKKER-VERWEIJ, M., De KORTE, M., BAYLAN, U., HARTEVELD, C. L., GIORDANO, P. C.

“…Summary We have tested five haemoglobin (Hb) separation apparatuses, dedicated to haemoglobinopathy diagnostics. These are the four high performance liquid…”
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ICSH recommendations for the measurement of Haemoglobin A2 by STEPHENS, A. D., ANGASTINIOTIS, M., BAYSAL, E., CHAN, V., FUCHAROEN, S., GIORDANO, P. C., HOYER, J. D., MOSCA, A., WILD, B.

“…Summary Although DNA analysis is needed for characterization of the mutations that cause β‐thalassaemia, measurement of the Hb A2 is essential for the routine…”
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The effect of iron deficiency anemia on the levels of hemoglobin subtypes: possible consequences for clinical diagnosis by Giordano, P C

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Diagnosis of Hb-pathies by Giordano, P C

“…EUROPEAN JOURNAL OF HUMAN GENETICS: (2002) 10, 672-672. doi:10.1038/sj.ejhg.5200885…”
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Segmental duplications involving the α-globin gene cluster are causing β-thalassemia intermedia phenotypes in β-thalassemia heterozygous patients by Harteveld, C.L., Refaldi, C., Cassinerio, E., Cappellini, M.D., Giordano, P.C.

“…We describe two cases of simple heterozygosity for the common β°-thalassemia mutation β39 (C → T), both presenting with a thalassemia intermedia phenotype. In…”
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Paediatric allogeneic bone marrow transplantation for homozygous β-thalassaemia, the Dutch experience by BALL, L. M, LANKESTER, A. C, GIORDANO, P. C, VAN WEEL, M. H, HARTEVELD, C. L, BREDIUS, R. G. M, SMIERS, F. J, EGELER, R. M, VOSSEN, Jmjj

“…We reviewed the results of the Dutch paediatric bone marrow transplant (BMT) program for children receiving HLA-identical BMT for beta-thalassaemia major over…”
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Epidemiology of haemoglobin disorders in Europe: an overview by Modell, B., Darlison, M., Birgens, H., Cario, H., Faustino, P., Giordano, P. C., Gulbis, B., Hopmeier, P., Lena-Russo, D., Romao, L., Theodorsson, E.

“…Objective. As a result of global population movements, haemoglobin disorders (thalassaemias and sickle cell disorders) are increasingly common in the formerly…”
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ICSH recommendations for the measurement of Haemoglobin F by STEPHENS, A. D., ANGASTINIOTIS, M., BAYSAL, E., CHAN, V., DAVIS, B., FUCHAROEN, S., GIORDANO, P. C., HOYER, J. D., MOSCA, A., WILD, B.

“…Summary Measurement of the Haemoglobin F in red cell haemolysates is important in the diagnosis of δβ thalassaemia, hereditary persistence of fetal haemoglobin…”
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Newborn screening for hemoglobinopathies using capillary electrophoresis by Giordano, P C

“…This chapter reports the essential elements needed to understand basic laboratory diagnostics consisting of separation and measurement of the hemoglobin…”
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