Hb Mizuho Case Report; Early Genomic Testing Facilitates a Life Changing Diagnosis-Reference-Cited by-同舟云学术

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

Published:2024-01-02 Issue:1 Volume:48 Page:30-33
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Elieff Olivia¹,Rawlings Lesley²,Pham Cuong³,Mihalopoulos Samantha³,Henry Denae²,Simons Keryn²,Tapp Heather¹

Affiliation:

1. Department of Haematology & Oncology, Women’s & Children’s Hospital, Adelaide, South Australia, Australia

2. Genetics & Molecular Pathology, SA Pathology, Women’s & Children’s Hospital, Adelaide, South Australia, Australia

3. Department Haematology, SA Pathology, Royal Adelaide Hospital, Adelaide, South Australia, Australia

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/03630269.2023.2301028

Reference8 articles.

1. Hemoglobin Mizuho or Beta 68 (E 12) Leucine → Proline, a new Ufistarle Variaiit Associated with Severe Hemolytic Anemia

2. The rare hemoglobin variant Hb Mizuho: report of a Swiss family and literature review

3. Hb Mizuho (HBB: c.206T>C): Pitfalls of Screening Tests in an Unstable Hemoglobin Variant Diagnosed after Targeted Next-Generation Sequencing

4. 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

5. HB Mizuho or α2β268(E12)Leu→pro in a Caucasian Boy with high levels of HB F; Identification by Sequencing of Amplified DNA

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