Search Results - "HARTEVELD, C. L."

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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Moderate–severe beta‐thalassemia intermedia phenotype caused by sextuplicated alpha‐globin gene allele in two beta‐thalassemia carriers by Achour, Ahlem, Knijnenburg, Jeroen, Koopmann, Tamara, Raz, Amir, Tischkowitz, Marc, Coates, Thomas D., Baas, F., Harteveld, C. L.

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State of the art and new developments in molecular diagnostics for hemoglobinopathies in multiethnic societies by Harteveld, C. L.

“…Summary For detecting carriers of thalassemia traits, the basic part of diagnostics consists of measurement of the hematological indices followed by mostly…”
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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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Suppression of Hb Bart's to improve tissue oxygenation and fetal development in homozygous alpha‐thalassemia by Lugthart, G., Verweij, E. J. T., Harteveld, C. L., Tan, R. N. G. B., Knapen, M. F. C. M., Slaghekke, F., Haak, M. C., Mohseny, A. B., Smiers, F. J.

“…Intra‐uterine reduction of Hb Bart's only reached with exchange transfusions…”
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A novel α 0 -thalassemia deletion in a Brazilian child with Hb H disease: -- Mococa by Soler, A M, Pedroso, G A, Geraldo, A P M, Albuquerque, D M, Costa, F F, Santos, M N N, Knijnenburg, J, Harteveld, C L, Sonati, M F, da Luz, J A

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A novel α0‐thalassemia deletion in a Brazilian child with Hb H disease: −−Mococa by Soler, A. M., Pedroso, G. A., Geraldo, A. P. M., Albuquerque, D. M., Costa, F. F., Santos, M. N. N., Knijnenburg, J., Harteveld, C. L., Sonati, M. F., da Luz, J. A.

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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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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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Molecular analysis of complex cases of alpha- and beta-thalassemia in Mexican mestizo patients with microcytosis and hypochromia reveals two novel alpha(0) -thalassemia deletions - -(Mex1) and - -(Mex2) by de-la-Cruz-Salcedo, E I, Ibarra, B, Rizo-de-la-Torre, L C, Sánchez-López, J Y, González-Mercado, A, Harteveld, C L, Perea-Díaz, F J

“…Alpha-thalassemia (α-thal) is a common monogenic disorder worldwide. In mixed ethnic populations, α-thal and beta-thalassemia (β-thal) can be expected,…”
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Denaturing gradient gel electrophoresis and direct sequencing of PCR amplified genomic DNA: a rapid and reliable diagnostic approach to beta thalassaemia by Losekoot, M, Fodde, R, Harteveld, C L, van Heeren, H, Giordano, P C, Bernini, L F

“…The analysis of polymerase chain reaction (PCR)-amplified beta-globin DNA with allele-specific oligonucleotide (ASO) probes reveals a very heterogeneous…”
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Molecular diagnostics of the HBB gene in an Omani cohort using bench-top DNA Ion Torrent PGM technology by Hassan, S.M., Vossen, R.H.A.M., Chessa, R., den Dunnen, J.T., Bakker, E., Giordano, P.C., Harteveld, C.L.

“…Hemoglobinopathies, such as sickle cell disease (SCD) and beta-thalassemia major (TM), are severe diseases and the most common autosomal recessive condition…”
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Aberrant glycated haemoglobin (HbA1c) results leading to haemoglobinopathy diagnosis in four Belgian patients by Van Laer, C, Harteveld, C L, Pauwels, S, Desmet, K, Kieffer, D

“…We report four cases in which haemoglobinopathy screening was triggered following aberrant HbA1c analysis. Either the HbA1c assay was unable to produce a…”
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Occurrence of common and rare δ-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of δ-globin gene defects in β-thalassemia diagnostics by PHYLIPSEN, M., GALLIVAN, M. V. E., ARKESTEIJN, S. G. J., HARTEVELD, C. L., GIORDANO, P. C.

“…Summary Introduction:  The aim of this review is to study the frequency of common and the occurrence of rare and novel mutations of the delta‐globin gene and…”
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Haemoglobinopathy analyses in the Netherlands: a report of an in vitro globin chain biosynthesis survey using a rapid, modified method by Giordano, P. C., Van Delft, P., Batelaan, D., Harteveld, C. L., Bernini, L. F.

“…The paper reports the results obtained from the study of 949 patients examined for a suspected α‐ or β‐thalassaemia using a rapid modified method of in vitro…”
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Sickle cell anemia and α-thalassemia: A modulating factor in homozygous HbS/S patients in Oman by Hassan, S.M, Al Muslahi, M, Al Riyami, M, Bakker, E, Harteveld, C.L, Giordano, P.C

“…Abstract We report the general phenotype severity and the hematological presentation in a cohort of 125 sickle cell anemia (SCA) patients with identical…”
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Complex neonatal hemoglobin pattern due to co-inheritance of Hb Q-Thailand and Hb E by van Gammeren, A. J., Jonkers, M., Harteveld, C. L.

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