Le déficit en G6PD

Alternate Title: G6PD deficiency, an update (English)

Authors: Pissard, S. ^*, Wajcman, H.

Source: In Journal de pédiatrie et de puériculture October 2021 34(5):244-250

Hemoglobinopathy testing: the significance of accuracy and pitfalls in HbA2 determination

Authors: Wajcman, H., Azimi, M., Cui, J., Hoppe, C., Flamini, M., Ho, C., Reddy, S.

Source: INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY. 39(1):e23-e27

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Evidence for a gene conversion in a Hb Arya Carrier [ codon 47 Asp>Asn, Hb A1(or Hb A2):c.142 G>A]

Authors: Pcriaux, A., Paillard, C., Galoisy, A., Riou, J., Le metayer, N., Wajcman, H., Pissard, S.

Source: INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY. 39(3):e55-e59

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN384695137&indx=1&recIds=ETOCRN384695137

Databases of Human Hemoglobin Variants and Other Resources at the Globin Gene Server
Titus H. J. Huisman memorial symposium

Authors: Hardison, R. C., Chui, D. H. K., Riemer, C., Giardine, B., Lehvaslaiho, H., Wajcman, H., Miller, W.

Source: HAEMOGLOBIN -NEW YORK-. 25(NO 2):183-194

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Abnormal Hemoglobins: Laboratory Methods
Titus H. J. Huisman memorial symposium

Authors: Wajcman, H., Prehu, C., Bardakdjian-Michau, J., Prome, D., Riou, J., Godart, C., Mathis, M., Hurtrel, D., Galacteros, F.

Source: HAEMOGLOBIN -NEW YORK-. 25(NO 2):169-182

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A New Silent β Chain Variant: Hb Hounslow [β80(EF4)Asn→Tyr]

Authors: Préhu C, Riou J, Henthorn J, Wajcman H

Source: Balkan Journal of Medical Genetics, Vol 10, Iss 1, Pp 29-32 (2007)

Subject Terms: hemoglobin (hb) variant, hemoglobinopathies, modulator factors, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1311-0160

Access URL: https://doaj.org/article/2842e4aa343346d78f3056eb071fc068

Pitfalls in the genetic diagnosis of Hb S

Authors: Moradkhani, K., Riou, J., Wajcman, H.

Source: CLINICAL BIOCHEMISTRY -OTTAWA THEN NEW YORK- PERGAMON PRESS THEN ELSEVIER SCIENCE. 46(4-5):291-299

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN327267125&indx=1&recIds=ETOCRN327267125

Two new class III G6PD variants [G6PD Tunis (c.920A>C: p.307Gln>Pro) and G6PD Nefza (c.968T>C: p.323 Leu>Pro)] and overview of the spectrum of mutations in Tunisia

Authors: Benmansour, I., Moradkhani, K., Moumni, I., Wajcman, H., Hafsia, R., Ghanem, A., Abbes, S., Prehu, C.

Source: BLOOD CELLS MOLECULES AND DISEASES. 50(2):110-114

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN324816482&indx=1&recIds=ETOCRN324816482

Abnormal haemoglobins: detection & characterization
Haemoglobinopathies

Authors: Wajcman, H., Moradkhani, K.

Source: INDIAN JOURNAL OF MEDICAL RESEARCH. 134(4):538-546

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN302605451&indx=1&recIds=ETOCRN302605451

a-Hemoglobin Stabilizing Protein: A Modulating Factor in Thalassemias??

Authors: Wajcman, H., Vasseur, C., Pissard, S., Baudin-Creuza, V.

Source: HEMOGLOBIN -NEW YORK-. 35(5-6):463-468

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN301916496&indx=1&recIds=ETOCRN301916496

Hb Charlieu [a106(G13)LeuPro (a1)]: A New Phenotypically Silent Hemoglobin Variant Associated with a Mild a-Thalassemia Phenotype

Authors: Joly, P., Szymanowicz, A., Neyron, M. J., Zine, A., Wajcman, H., Francina, A.

Source: HEMOGLOBIN -NEW YORK-. 34(4):366-373

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN274897270&indx=1&recIds=ETOCRN274897270

Strategy for Identification by Mass Spectrometry of a New Human Hemoglobin Variant with Two Mutations in Cis in the b-Globin Chain: Hb S-Clichy [b6(A3)GluVal; b8(A5)LysThr]

Authors: Zanella-Cleon, I., Prehu, C., Joly, P., Riou, J., Becchi, M., Wajcman, H., Francina, A.

Source: HEMOGLOBIN -NEW YORK-. 33(3-4):177-187

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Globin chain analysis: An important tool in phenotype study of hemoglobin disorders

Authors: Wajcman, H., Riou, J.

Source: CLINICAL BIOCHEMISTRY -OTTAWA THEN NEW YORK- PERGAMON PRESS THEN ELSEVIER SCIENCE. 42(18):1802-1806

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN261947594&indx=1&recIds=ETOCRN261947594

Alpha hemoglobin stabilizing protein and thalassemic phenotypes

Authors: Wajcman, H.

Source: HEMATOLOGIE -MONTROUGE-. 15(5):395-398

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN261669923&indx=1&recIds=ETOCRN261669923

A rare G6PD variant (c.383T>G; p.128Leu>Arg) with a molecular pathophysiological mechanism similar to that of G6PD A− (68Val>Met, 126Asn>Asp)

Authors: Moradkhani, K., Bahuau, M., Préhu, C., Martin, N., Bimet, C., Galactéros, F., Wajcman, H.

Source: BLOOD CELLS MOLECULES AND DISEASES. 43(3):226-229

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN260472287&indx=1&recIds=ETOCRN260472287

Mutations in the paralogous human α-globin genes yielding identical hemoglobin variants

Authors: Moradkhani, K., Préhu, C., Old, J., Henderson, S., Balamitsa, V., Luo, H. Y., Poon, M. C., Chui, D. H., Wajcman, H., Patrinos, G. P.

Source: ANNALS OF HEMATOLOGY. 88(6):535-543

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Structure and function evolution in the superfamily of globins

Authors: Wajcman, H., Kiger, L., Marden, M. C.

Source: COMPTES RENDUS BIOLOGIES. 332(2-3):273-282

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN246696626&indx=1&recIds=ETOCRN246696626

Hb Gerland [α55(E4)Val→Ala]: A Mutation Found on the α1-Globin Gene

Authors: Moradkhani, K., Riou, J., Francina, A., Wajcman, H., Prehu, C.

Source: HEMOGLOBIN -NEW YORK-. 32(5):478-484

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN238739614&indx=1&recIds=ETOCRN238739614

Unstable and Thalassemic α Chain Hemoglobin Variants: A Cause of Hb H Disease and Thalassemia Intermedia

Authors: Wajcman, H., Traeger-Synodinos, J., Papassotiriou, I., Giordano, P., Harteveld, C., Baudin-Creuza, V., Old, J.

Source: HEMOGLOBIN -NEW YORK-. 32(4):327-349

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An α0-Thalassemia-Like Mutation: Hb Suan-Dok [α109(G16)Leu→Arg] Carried by a Recombinant -α3.7 Gene

Authors: Moradkhani, K., Mazurier, E., Giordano, P., Wajcman, H., Prehu, C.

Source: HEMOGLOBIN -NEW YORK-. 32(4):419-424

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