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

Annals of Hematology - Tập 100 Số 7 - Trang 1677-1683 - 2021
Linet M Njue1, Cesare Medri1, Peter M. Keller2, Miriam Diepold3, Behrouz Mansouri Taleghani1, Alicia Rovó1
1Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital, University of Bern, 3010, Bern, Switzerland
2Hematology, Spital Langenthal SRO AG, 4900, Langenthal, Switzerland
3Hematology and Oncology, Children’s Hospital, Inselspital, Bern University Hospital, University of Bern, 3010, Bern, Switzerland

Tóm tắt

AbstractHb 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.

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Tài liệu tham khảo

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Annals of Hematology

Tập 100 Số 7

1677-1683

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