- HFE genotyping by amplification refractory mutation system-denaturing HPLCSerge Pissard
Laboratory of Biochemistry and Human Molecular Genetics and INSERM U 468, Hopital Henri Mondor, AP HP, 51 Av du Marechal de Lattre de Tassigny, 94010 Creteil, France
Clin Chem 48:769-72. 2002
- Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutationsSerge Pissard
Laboratoire de Biochimie et de Génétique, AP HP, Hopital Henri Mondor, Creteil, France
Br J Haematol 133:683-9. 2006..These results support the characterisation of PK mutations, and show that prenatal diagnosis can identify affected infants and prepare safer conditions for the birth...
- Perinatal zidovudine prophylaxis in HIV type-1-infected pregnant women with thalassaemia carriage in ThailandNelly Briand
Institut National d Etudes Demographiques, Paris, France
Antivir Ther 14:117-22. 2009....
- Severe hemolytic anemia in a Vietnamese family, associated with novel mutations in the gene encoding for pyruvate kinaseCatherine Costa
Laboratoire de Biochimie Genetique, AP HP, et INSERM U468, Hôpital Henri Mondor 94010 CRETEIL, France
Haematologica 90:25-30. 2005..The family requested an antenatal diagnosis during a second pregnancy. To characterize the molecular defect, we studied the family over three generations...
- Pyruvate kinase (PK) deficiency in newborns: the pitfalls of diagnosisSerge Pissard
Laboratoire de Biochimie Génétique et INSERM U 841 eq 11, Hopital Henri Mondor, Creteil, France
J Pediatr 150:443-5. 2007..We report five cases, with a 1- to 17-month delayed diagnosis, highlighting the need to measure PK activity in neonates and parents in case of an hemolysis at birth...
- Practical approach for characterization of glucose 6-phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: description of seven new G6PD mutantsKamran Moradkhani
AP HP, Hôpital H Mondor A Chenevier, Service de Biochimie et Génétique, Creteil 94000, France
Am J Hematol 87:208-10. 2012..821A>T, p.Glu274Val), G6PD Villeurbanne (c.1000_1002delACC, p.Thr334del), and G6PD Amiens (c.1367A>T, p.Asp456Val)] and one found fortuitously G6PD Montpellier (c.1132G>A, p.Gly378Ser)...
- Estimation of the difference in HbF expression due to loss of the 5' δ-globin BCL11A binding regionElyes Slim Ghedira
APHP Molecular Genetics Department, Henri Mondor Hospital, Creteil, France
Haematologica 98:305-8. 2013..7 g/dL, ratio 2.81). This result provides evidence for the use of BCL11A level down-regulation or this domain blockage for new therapies in sickle cell disease and β-thalassemia major patients...
- A second observation of the rare frameshift mutation in the β-globin gene: codon 46 (+A) (Hbb:c.138_139insA)Elyes Slim Ghedira
Laboratory of Biochemistry and Molecular Genetics, Henri Mondor Hospital APHP, Creteil, France
Hemoglobin 35:157-61. 2011..In the parents and sister, hematological parameters were those of a thalassemia minor in agreement with the two β(0) mutations found in the family...
- Two French Caucasian families with dominant thalassemia-like phenotypes due to hyper unstable hemoglobin variants: Hb Sainte Seve [codon 118 (-T)] and codon 127 [CAG-->TAG (Gln-->stop])Claude Prehu
INSERM U654, Hopital Henri Mondor, Creteil, France
Hemoglobin 29:229-33. 2005..These two observations are additional evidences of the important role played by helix H in Hb stability: its partial absence, or a large structural modification, seems to be the major reason for the hyper instability of such molecules...
- α-Hemoglobin stabilizing protein: a modulating factor in thalassemias?Henri Wajcman
INSERM U955, IMRB, Universite Paris Est, 94010 Creteil, France
Hemoglobin 35:463-8. 2011..It therefore appears that AHSP is a factor with a key role in the formation of Hb tetramers and that structural abnormalities, either on the α-Hb or on the AHSP, may act as a thalassemia modulating factor...
- Characterization of three new deletions in the β-globin gene cluster during a screening survey in two French urban areasSerge Pissard
Laboratoire de Genetique Moleculaire, CHU Henri Mondor AP HP, and Université Paris Est Créteil UPEC, Creteil, France
Clin Chim Acta 415:35-40. 2013..Deletions represent about 5% of the mutations in the β-globin gene cluster. We report here the screening for such deletions in the two French urban areas of Paris and Lyon between 2003 and 2010...
- Compound heterozygosity for two new mutations in the beta-globin gene [codon 9 (+TA) and polyadenylation site (AATAAA-->AAAAAA)] leads to thalassemia intermedia in a Tunisian patientAurelia Jacquette
Laboratoire de Biochimie et de Génétique, Hopital Henri Mondor, Creteil, France
Hemoglobin 28:243-8. 2004..We describe here a patient who originated from Tunisia, in whom we found two as yet unreported mutations, showing that even in a well-studied population a full gene study might be needed to characterize mutation(s)...
- A one-step real-time PCR assay for rapid prenatal diagnosis of sickle cell disease and detection of maternal contaminationCatherine Costa
Laboratoire de Genetique Moleculaire, CHU Henri Mondor AP HP, Creteil, France
Mol Diagn 7:45-8. 2003..In addition, these methods are labor intensive and time consuming and risk carry-over contamination...
- Erythrocyte density in sickle cell syndromes is associated with specific clinical manifestations and hemolysisPablo Bartolucci
Service de Medecine Interne, Hopital Henri Mondor, Assistance Publique Hopitaux de Paris AP HP, Universite Paris Est, Creteil, France
Blood 120:3136-41. 2012..Thus, DRBCs are associated with specific clinical manifestations and biologic markers and may be a useful addition to the biologic and clinical evaluation of patients with SCD, because they can easily be measured in a hematocrit tube...
- An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1Francois Yves Dupradeau
Universite de Picardie Jules Verne, UPRES EA 3901 and INSERM E0351, Pôle Santé, Amiens, France
Hum Mutat 29:206. 2008..We conclude that the occurrence of complex alleles may be an alternative explanation for the variability of the phenotype in individuals who are compound heterozygous for c.[187C>G]+[845G>A] (p.[His63Asp]+[Cys282Tyr])...
- Rapid detection of beta-Thalassemia alleles in Egypt using naturally or amplified created restriction sites and direct sequencing: a step in disease controlGehan Hussein
Laboratory of Hematology, Saint Eloi Hospital, CHU of Montpellier, Montpellier, France
Hemoglobin 31:49-62. 2007..7% of the compound heterozygous patients having consanguineous parents. These data provide insights for the distribution of beta-thal alleles in this region, and could be used as a basis for genetic counseling and prenatal diagnosis...
- A novel mutation of the beta-globin gene promoter (-102 C>A) and pitfalls in family screeningPatricia Aguilar-Martinez
Laboratory of Hematology, CHU of Montpellier, Montpellier, France
Am J Hematol 82:1088-90. 2007..In this family, we also report a new silent beta-thalassemia mutation, -102 (C>A), in the distal CACCC box of the beta-globin gene promoter...
- Decreased transfusion needs associated with hydroxyurea therapy in Algerian patients with thalassemia major or intermediaMohamed Bradai
Hematology Service, Franz Fanon Hospital, Blida, Algeria
Transfusion 47:1830-6. 2007..Our aims were to determine the proportion of good responders to hydroxyurea in a population of transfusion-dependent thalassemic patients and to identify the factors associated with a decrease of transfusion needs...
- Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common alpha-thalassemia point mutations and deletionsHelene Puehringer
ViennaLab Diagnostics GmbH, Vienna, Austria
Clin Chem Lab Med 45:605-10. 2007..The complex genetics of alpha-thalassemias requires diagnostic methods with the capacity to screen rapidly and accurately for common causative mutations...