DELEÇÃO TALASSÊMICA ALFA0 NOVA (–MOCOCA) DETECTADA EM CRIANÇA COM DOENÇA DA HB H (-A3.7/–MOCOCA)

Autor: GA Pedroso, AM Soler, APM Geraldo, BB Oliveira, FF Costa, MNN Santos, CL Harteveld, SE Jorge, MF Sonati, J Luz

Publikováno v: Hematology, Transfusion and Cell Therapy. 44:S547

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3437ae0bdf9e22f24918b6de9a2b77b9
https://doi.org/10.1016/j.htct.2022.09.935

Heterozygous Beta-Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions.

Autor: van der Meij E; Department of Obstetrics & Gynaecology, Division of Fetal Therapy, Leiden University Medical Center, Leiden, The Netherlands., Smiers FJW; Department of Pediatric Hematology, Leiden University Medical Center, Leiden, The Netherlands., Koopmann TT; Department of Clinical Genetics/LDGA, Leiden University Medical Center, Leiden, The Netherlands., Krapels I; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., LePoole K; Sanquin Blood Bank, Unit Transfusion Medicine, Amsterdam, The Netherlands., Lopriore E; Department of Pediatrics, Division of Neonatology, Leiden University Medical Center, Leiden, The Netherlands., Middeldorp JM; Department of Obstetrics & Gynaecology, Division of Fetal Therapy, Leiden University Medical Center, Leiden, The Netherlands., Ootjers CS; Department of Hematology, Division Transfusion Medicine, Leiden University Medical Center, Leiden, The Netherlands., Scharnhorst V; Department of Biomedical Engineering, Catharina Hospital, Clinical Laboratory and Technical University Eindhoven, Eindhoven, The Netherlands., Scheepers HCJ; GROW, Departement of Obstetrics and Gynaecology, School for Oncology and Reproduction, Maastricht University Medical Center, Maastricht, The Netherlands., Harteveld CL; Department of Clinical Genetics/LDGA, Leiden University Medical Center, Leiden, The Netherlands., Verweij EJTJ; Department of Obstetrics & Gynaecology, Division of Fetal Therapy, Leiden University Medical Center, Leiden, The Netherlands.

Publikováno v: Prenatal diagnosis [Prenat Diagn] 2024 Nov 02. Date of Electronic Publication: 2024 Nov 02.

Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia.

Autor: Harteveld CL; Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands., Achour A; Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.; Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis 3000, Tunisia., Fairuz Mohd Hasan NF; Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.; Department of Pathology, Hospital Raja Perempuan Zainab II, Kota Bharu 15400, Malaysia., Legebeke J; Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands., Arkesteijn SJG; Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands., Huurne JT; Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands., Verschuren M; Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands., Bhagwandien-Bisoen S; Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands., Schaap R; Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands., Vijfhuizen L; Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands., Idrissi HE; Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands., Babbs C; Radcliffe Department of Medicine, Medical Sciences Division, University of Oxford, Oxford OX3 9DU, UK., Higgs DR; Radcliffe Department of Medicine, Medical Sciences Division, University of Oxford, Oxford OX3 9DU, UK., Koopmann TT; Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands., Vrettou C; Laboratory of Medical Genetics, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, 115 27 Athens, Greece., Traeger-Synodinos J; Laboratory of Medical Genetics, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, 115 27 Athens, Greece., Baas F; Department of Clinical Genetics/LDGA, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2024 Aug 16; Vol. 25 (16). Date of Electronic Publication: 2024 Aug 16.

A novel α ⁰ -thalassemia deletion in a Brazilian child with Hb H disease: -- ^Mococa .

Autor: Soler AM; Laboratorio de Genética Molecular Humana, Departamento de Ciencias Biológicas, Centro Universitario Regional (CENUR) Litoral Norte. Universidad de la República (UdelaR), Salto, Uruguay., Pedroso GA; Departamento de Patologia Clínica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (UNICAMP), Campinas, SP, Brazil., Geraldo APM; Integrated Center for Oncohematological Research in Childhood (CIPOI), UNICAMP, Campinas, SP, Brazil., Albuquerque DM; Center for Hematology and Hemotherapy, UNICAMP, Campinas, SP, Brazil., Costa FF; Center for Hematology and Hemotherapy, UNICAMP, Campinas, SP, Brazil., Santos MNN; Departamento de Patologia Clínica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (UNICAMP), Campinas, SP, Brazil., Knijnenburg J; Department of Human and Clinical Genetics, Hemoglobinopathy Expert Center, Leiden University Medical Center-LUMC, Leiden, The Netherlands., Harteveld CL; Department of Human and Clinical Genetics, Hemoglobinopathy Expert Center, Leiden University Medical Center-LUMC, Leiden, The Netherlands., Sonati MF; Departamento de Patologia Clínica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (UNICAMP), Campinas, SP, Brazil., da Luz JA; Laboratorio de Genética Molecular Humana, Departamento de Ciencias Biológicas, Centro Universitario Regional (CENUR) Litoral Norte. Universidad de la República (UdelaR), Salto, Uruguay.

Publikováno v: International journal of laboratory hematology [Int J Lab Hematol] 2024 Aug; Vol. 46 (4), pp. 747-750. Date of Electronic Publication: 2024 Apr 03.

Suppression of Hb Bart's to improve tissue oxygenation and fetal development in homozygous alpha-thalassemia.

Autor: Lugthart G; Leiden University Medical Center (LUMC) Willem-Alexander Children's Hospital, Pediatric Hematology and HSCT, Leiden, The Netherlands., Verweij EJT; Department of Obstetrics and Fetal Therapy, LUMC, Leiden, The Netherlands., Harteveld CL; Department of Clinical Genetics, LUMC, Leiden, The Netherlands., Tan RNGB; LUMC Willem-Alexander Children's Hospital, Neonatal Intensive Care Unit, Leiden, The Netherlands., Knapen MFCM; Department of Obstetrics and Prenatal Medicine, ErasmusMC, Rotterdam, The Netherlands., Slaghekke F; Department of Obstetrics and Fetal Therapy, LUMC, Leiden, The Netherlands., Haak MC; Department of Obstetrics and Fetal Therapy, LUMC, Leiden, The Netherlands., Mohseny AB; Leiden University Medical Center (LUMC) Willem-Alexander Children's Hospital, Pediatric Hematology and HSCT, Leiden, The Netherlands., Smiers FJ; Leiden University Medical Center (LUMC) Willem-Alexander Children's Hospital, Pediatric Hematology and HSCT, Leiden, The Netherlands.

Publikováno v: American journal of hematology [Am J Hematol] 2024 Aug; Vol. 99 (8), pp. 1613-1615. Date of Electronic Publication: 2024 Apr 24.