A novel α⁰-thalassemia deletion in a Brazilian child with Hb H disease: --^Mococa

Affiliations

¹ Laboratorio de Genética Molecular Humana, Departamento de Ciencias Biológicas, Centro Universitario Regional (CENUR) Litoral Norte. Universidad de la República (UdelaR), Salto, Uruguay.
² Departamento de Patologia Clínica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (UNICAMP), Campinas, SP, Brazil.
³ Integrated Center for Oncohematological Research in Childhood (CIPOI), UNICAMP, Campinas, SP, Brazil.
⁴ Center for Hematology and Hemotherapy, UNICAMP, Campinas, SP, Brazil.
⁵ Department of Human and Clinical Genetics, Hemoglobinopathy Expert Center, Leiden University Medical Center-LUMC, Leiden, The Netherlands.

Case Reports

A M Soler et al. Int J Lab Hematol. 2024 Aug.

. 2024 Aug;46(4):747-750.

doi: 10.1111/ijlh.14277. Epub 2024 Apr 3.

¹ Laboratorio de Genética Molecular Humana, Departamento de Ciencias Biológicas, Centro Universitario Regional (CENUR) Litoral Norte. Universidad de la República (UdelaR), Salto, Uruguay.
² Departamento de Patologia Clínica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (UNICAMP), Campinas, SP, Brazil.
³ Integrated Center for Oncohematological Research in Childhood (CIPOI), UNICAMP, Campinas, SP, Brazil.
⁴ Center for Hematology and Hemotherapy, UNICAMP, Campinas, SP, Brazil.
⁵ Department of Human and Clinical Genetics, Hemoglobinopathy Expert Center, Leiden University Medical Center-LUMC, Leiden, The Netherlands.

No abstract available

References

1. Farashi S, Harteveld CL. Molecular basis of α‐thalassemia. Blood Cells Mol Dis. 2018;70:43‐53. doi:10.1016/j.bcmd.2017.09.004
1. Weatherall DJ, Clegg JB. Inherited haemoglobin disorders: an increasing global health problem. Bull World Health Organ. 2001;79:704‐712.
1. Hottentot QP, de Meijer E, Buermans HP, White SJ, Harteveld CL. Breakpoint characterization of a rare alpha0‐thalassemia deletion using targeted locus amplification on genomic DNA. Int J Lab Hematol. 2021;43(6):1628‐1634. doi:10.1111/ijlh.13651
1. Chong SS, Boehm CD, Cutting GR, Higgs DR. Simplified multiplex‐PCR diagnosis of common southeast Asian deletional determinants of alpha‐thalassemia. Clin Chem. 2000;46:1692‐1695. doi:10.1093/clinchem/46.10.1692
1. Dodé C, Krishnamoorthy R, Lamb J, Rochette J. Rapid analysis of −α3.7 thalassaemia and αααanti 3.7 triplication by enzymatic amplification analysis. Br J Haematol. 1993;83:105‐111. doi:10.1111/j.1365‐2141.1993.tb04639.x