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Hemoglobin
international journal for hemoglobin research
Volume 45, 2021 - Issue 5
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Hb Mizuho (HBB: c.206T>C): Pitfalls of Screening Tests in an Unstable Hemoglobin Variant Diagnosed after Targeted Next-Generation Sequencing

Diksha D. Yadava Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, IndiaView further author information
,
Manu Jamwala Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, IndiaORCID Iconhttps://orcid.org/0000-0002-6860-3698View further author information
ORCID Icon,
Namrata Singha Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, IndiaORCID Iconhttps://orcid.org/0000-0002-3214-2201View further author information
ORCID Icon,
Ritika Sharmaa Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, IndiaView further author information
,
Reena Dasa Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, IndiaORCID Iconhttps://orcid.org/0000-0002-8938-5423View further author information
ORCID Icon,
Amita Trehanb Department of Pediatric Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh, IndiaORCID Iconhttps://orcid.org/0000-0001-9071-7651View further author information
ORCID Icon,
Deepak Bansalb Department of Pediatric Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh, IndiaORCID Iconhttps://orcid.org/0000-0002-1009-7649View further author information
ORCID Icon,
Sanjeev Chhabraa Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, IndiaView further author information
&
Prashant Sharmaa Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, IndiaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0003-4741-3403View further author information
ORCID Icon show all
Pages 338-340 | Received 04 Aug 2021, Accepted 02 Nov 2021, Published online: 10 Feb 2022

References

  • Jamwal M, Sharma P, Das R. Laboratory approach to hemolytic anemia. Indian J Pediatr. 2020;87(1):66–74.
  • Ohba Y, Miyaji T, Matsuoka M, et al. Hemoglobin Mizuho or beta 68 (E 12) leucine leads to proline, a new unstable variant associated with severe hemolytic anemia. Hemoglobin. 1977;1(5):467–477.
  • 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.
  • Shiromi Perera P, Silva I, Hapugoda M, et al. A. 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.
  • Keeling MM, Bertolone SJ, Baysal E, et al. Hb Mizuho or α2β268(E12)Leu→Pro. Hemoglobin. 1991;15(6):477–485.
  • Harthoorn-Lasthuizen EJ, Nabben FA, Kazanetz EG, et al. Hb Mizuho or α2β268(E12)Leu→Pro in a young Dutch boy. Hemoglobin. 1995;19(3–4):203–206.
  • Labotka RJ, Vida LN, Honig GR. Hb Mizuho [β68(E12)Leu→Pro]. Second occurrence identified in a Caucasian child with hemolytic anemia and dense erythrocyte inclusions. Hemoglobin. 1990;14(2):129–136.
  • Stolmeijer TM, van der Berg AP, Koeze J, et al. Interplay of co-inherited diseases can turn benign syndromes in a deadly combination: haemoglobinopathy and bilirubin transport disorder. Neth J Med. 2015;73(5):247–252.
  • Sarker TT, Delvadia B, Li S, et al. Mizuho hemoglobinopathy, presenting with severe hemolytic anemia and multisystem organ failure secondary to exertion. Transfusion. 2021;61(7):1996–1997.

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