Hemoglobin variant in disguise

Clinical Biochemistry - Tập 118 - Trang 110589 - 2023
V. Higgins1,2, L. MacNeil3,4, I. Sosova2,3, R. Ridsdale3,4, A. Bruce5,6, D. Brinc7,8, W. David9, J. Rara9, P. Bordeleau1, M.P. Estey1,2, M.L. Parker1,2, O. Ismail1,2, T. Agbor1,2
1DynaLIFE Medical Labs, Edmonton, AB, Canada
2Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, AB, Canada
3Newborn Screening Laboratory, Alberta Precision Laboratories, University of Alberta Hospital, Edmonton, AB, Canada
4Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada
5Division of Oncology and Hematology, Stollery Children’s Hospital, Edmonton, AB, Canada
6Department of Pediatrics, University of Alberta, Edmonton, AB, Canada
7University Health Network, Department of Clinical Biochemistry, Toronto, ON, Canada
8University of Toronto, Department of Laboratory Medicine and Pathobiology, Toronto, ON, Canada
9Department of Hematology and Flow Cytometry, University Health Network, Toronto, ON, Canada

Tài liệu tham khảo

Bain, 2020, Chapter 4: Sickle cell haemoglobin and its interactions with other variant hemoglobins and with thalassemia Colombo, 1976, The pattern of fetal haemoglobin disappearance after birth, Br. J. Haematol., 32, 79, 10.1111/j.1365-2141.1976.tb01877.x Forget, 2013, Classification of the disorders of hemoglobin, Cold Spring Harb. Perspect. Med., 3, a011684, 10.1101/cshperspect.a011684 Wahed A, Risin S. Issues with Immunology and Serology Testing. In: Accurate Results in the Clinical Laboratory [Internet]. Elsevier; 2013 [cited 2023 Feb 14]. p. 295–304. Available from: https://linkinghub.elsevier.com/retrieve/pii/B9780124157835000189. Zhou, 2021, The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing, IJNS, 7, 78, 10.3390/ijns7040078 Houwing, 2019, Sickle cell disease: Clinical presentation and management of a global health challenge, Blood Rev., 37, 100580, 10.1016/j.blre.2019.05.004 Kavanagh, 2022, Sickle Cell Disease: A Review, J. Am. Med. Assoc., 328, 57, 10.1001/jama.2022.10233 Centers for Disease Control and Prevention (CDC). Hemoglobinopathies: Current Practices for Screening, Confirmation and Follow-up. Association of Public Health Laboratories; 2015. Head, 2004, Some observations on the measurement of haemoglobin A2 and S percentages by high performance liquid chromatography in the presence and absence of alpha thalassaemia, J. Clin. Pathol., 57, 276, 10.1136/jcp.2003.008037 Levere, 1964, Effect of iron-deficiency anaemia on the metabolism of the heterogenic haemoglobins in sickle cell trait, Nature, 2, 499, 10.1038/202499a0 Heller, 1963, Variation in the amount of hemoglobin S in a patient with sickle cell trait and megaloblastic anemia, Blood, 21, 479, 10.1182/blood.V21.4.479.479 Steinberg M. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. Cambridge University Press. Baklouti, 1987, Association in cis of beta +-thalassemia and hemoglobin S, Am. J. Hematol., 26, 237, 10.1002/ajh.2830260305 Baklouti, 1989, Beta+-thalassemia in cis of a sickle cell gene: occurrence of a promoter mutation on a beta s chromosome, Blood, 74, 1817, 10.1182/blood.V74.5.1817.1817 Shooter, 2015, First reported duplication of the entire beta globin gene cluster causing an unusual sickle cell trait phenotype, Br. J. Haematol., 170, 128, 10.1111/bjh.13274 Sebia Hemoglobin Atlas [Internet]. [cited 2022 Dec 19]. Available from: https://extranet.sebia.com/content/hemoglobin-atlas. Bio-Rad - Library of Variants [Internet]. [cited 2022 Dec 19]. Available from: https://hemoglobins.bio-rad.com/Pages/StartPage.aspx?_ga=2.210362967.392789487.1671471432-1269794079.1671471431. Variant #0000604011 [Internet]. Global Variome shared Leiden Open Variation Database (LOVD); [cited 2022 Dec 19]. Available from: https://databases.lovd.nl/shared/variants/604011#00000017. HbVar: A database of Human Hemoglobin Variants and Thalassemias [Internet], cited 2023 Apr 26 https://globin.bx.psu.edu/hbvar/hbvar.html 2010 Available from:.
Thông tin
Thông tin xuất bản

Clinical Biochemistry

Tập 118

110589

Thông tin tác giả