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Hemoglobin
international journal for hemoglobin research
Volume 48, 2024 - Issue 1
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Research Articles

Hb Mizuho Case Report; Early Genomic Testing Facilitates a Life Changing Diagnosis

Olivia Elieffa Department of Haematology & Oncology, Women’s & Children’s Hospital, Adelaide, South Australia, AustraliaCorrespondence[email protected]
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,
Lesley Rawlingsb Genetics & Molecular Pathology, SA Pathology, Women’s & Children’s Hospital, Adelaide, South Australia, AustraliaView further author information
,
Cuong Phamc Department Haematology, SA Pathology, Royal Adelaide Hospital, Adelaide, South Australia, AustraliaView further author information
,
Samantha Mihalopoulosc Department Haematology, SA Pathology, Royal Adelaide Hospital, Adelaide, South Australia, AustraliaView further author information
,
Denae Henryb Genetics & Molecular Pathology, SA Pathology, Women’s & Children’s Hospital, Adelaide, South Australia, AustraliaView further author information
,
Keryn Simonsb Genetics & Molecular Pathology, SA Pathology, Women’s & Children’s Hospital, Adelaide, South Australia, AustraliaView further author information
&
Heather Tappa Department of Haematology & Oncology, Women’s & Children’s Hospital, Adelaide, South Australia, AustraliaView further author information
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Pages 30-33 | Received 02 Nov 2023, Accepted 28 Dec 2023, Published online: 10 Jan 2024

References

  • Ohba Y, Miyaji T, Matsuoka M, et al. Hemoglobin Mizuho or beta 68 (E12) leucine leads to proline, a new unstable variant associated with severe hemolytic anaemia. Hemoglobin. 1977;1(5):467–477. doi: 10.3109/03630267709027864.
  • Njue L, Medri C, Keller P, et al. The rare hemoglobin variant Hb Mizuho: report of a Swiss family and literature review. Ann Hematol. 2021;100(7):1677–1683. doi: 10.1007/s00277-021-04458-3.
  • Yadav D, Jamwal M, Singh N, et al. Hb Mizuho (HBB: c.206T > C): pitfalls of screening tests in an unstable hemoglobin variant diagnosed after targeted next-generation sequencing. Hemoglobin. 2021;45(5):338–340. PMID: 35144518 doi: 10.1080/03630269.2022.2034642.
  • Ya-Ping C, Wu P, Wang H, et al. A Rare case of abnormal hemoglobin variant hb mizuho: [HBB: c.206T > C β 68(E12) Leu-Pro]: a first report in the chinese population. Hemoglobin. 2022;47(3):130–134. doi: 10.1080/03630269.2023.2231851.
  • Keeling MM, Bertolone SJ, Baysal E, et al. HB Mizuho or α2β268(E12)Leu→pro in a Caucasian Boy with high levels of HB F; identification by Sequencing of Amplified DNA. Hemoglobin. 1991;15(6):477–485. doi: 10.3109/03630269109027895.
  • Harthoorn-Lasthuizen EJ, Nabben FA, Kazanetz EG, et al. HB Mizuho or alpha 2 beta 2 68(E12)Leu–>Pro in a young Dutch boy. Hemoglobin. 1995;19(3-4):203–206. doi: 10.3109/03630269509036941.
  • Sebia Capillary electrophoresis instruction manual, 2013.
  • Shiromi Perera P, Silva I, Hapugoda M, et al. Rare hemoglobin variants: Hb G-Szuhu (HBB: c.243C > G), Hb G-Coushatta (HBB: c.68A > C) and Hb Mizuho (HBB: c.206T > C) in Sri Lankan families. Hemoglobin. 2015;39(1):62–65. doi: 10.3109/03630269.2014.992530.

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