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

Njue, Linet; Medri, Cesare; Keller, Peter; Diepold, Miriam; Mansouri Taleghani, Behrouz; Rovó, Alicia (2021). The rare hemoglobin variant Hb Mizuho: report of a Swiss family and literature review. Annals of hematology, 100(7), pp. 1677-1683. Springer-Verlag 10.1007/s00277-021-04458-3

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Hb Mizuho is a very rare unstable hemoglobin; here, we describe the clinical history of three Swiss family members with Hb Mizuho together with a systematic review of the previously six published cases. The clinical history of the adult woman we report here is unique since this is the first Hb Mizuho presenting with Moyamoya complications and the first case reported with long-term erythrocyte exchange. The literature review showed that Hb Mizuho was mainly reported as a de novo mutation, with the exception of children descended from known cases. All published patients with this unstable hemoglobin showed severe hemolytic anemia with the exception of one; all were regularly transfused. Patients with higher HbF levels might require fewer transfusions. All patients underwent splenectomy at a median age of 4 years and had variable clinical improvement; some achieved complete resolution of transfusion dependency after splenectomy. Iron overload in Hb Mizuho patients seems to be mainly attributed to transfusions and has less to do with ineffective erythropoiesis. Diagnosis might be challenging; a normal hemoglobin electrophoresis should not rule out the diagnosis of unstable hemoglobin in patients with otherwise unexplained hemolytic anemia. This series shows the enormous utility of using molecular techniques for diagnosis.

Item Type:

Journal Article (Review Article)


04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Haematology and Central Haematological Laboratory

UniBE Contributor:

Njue, Linet Muthoni; Medri, Cesare; Diepold, Miriam; Mansouri Taleghani, Behrouz and Rovó, Alicia


600 Technology > 610 Medicine & health








Pierrette Durand Lüthi

Date Deposited:

24 Feb 2021 11:21

Last Modified:

13 Jun 2021 01:33

Publisher DOI:


PubMed ID:


Uncontrolled Keywords:

Erythrocytapheresis Hemoglobin Hemoglobinopathy Rare




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