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

Yadav, Diksha Dev; Jamwal, Manu; Singh, Namrata; Sharma, Ritika; Das, Reena; Trehan, Amita; Bansal, Deepak; Chhabra, Sanjeev; Sharma, Prashant

doi:10.1080/03630269.2022.2034642

Cited by 4 publications

(7 citation statements)

References 8 publications

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“…This corresponds well with the outcomes of splenectomy in other patients with Hb Mizuho, where 5 of 10 previous cases had a persistent but decreased need for blood transfusions postsplenectomy, 6 3 cases did not require transfusions after being splenectomized and 1 case had not been transfusion-dependent before splenectomy 3 . In one case, it was not reported whether the patient had undergone splenectomy 7 …”

Section: Discussionsupporting

confidence: 78%

“…3 In one case, it was not reported whether the patient had undergone splenectomy. 7 Interestingly, our patient developed prominent reticulocytosis after splenectomy which was not present before splenectomy. As this hematological occurrence has not been described as typical in previous Hb Mizuho cases, especially not to the degree found in our patient, the elevated reticulocyte count was initially suspected to be caused by interference.…”

Section: Discussionmentioning

confidence: 58%

“…9 Splenectomy has previously been shown to decrease reticulocyte count in children with congenital hemolytic anemia. 10 Reticulocytosis has been described in some patients with Hb Mizuho before splenectomy, [2][3][4]6,7 and in others after splenectomy. 2,5,6 Here, we present the case of a young boy with Hb Mizuho who developed a dramatically elevated reticulocyte count after splenectomy.…”

mentioning

confidence: 99%

“…Hemoglobin (Hb) Mizuho is a rare, autosomal dominant hemoglobinopathy reported in only 10 cases worldwide 1–7 . The condition is caused by a mutation in the β-globin gene with a Leu → Pro substitution ( HBB : c.206T>C), resulting in a very unstable Hb 1 .…”

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confidence: 99%

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Extreme Reticulocytosis After Splenectomy in a Patient With Hemoglobin Mizuho

Narvestad-Bøttger,

Winther-Larsen,

Haugbølle Bjerre

et al. 2023

Journal of Pediatric Hematology/Oncology

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Background: Patients with Hb Mizuho may be splenectomized at a young age to decrease their need for blood transfusions. Observations: Transfusion-dependency decreased dramatically in a 4-year-old white boy with Hb Mizuho after splenectomy. Surprisingly, he developed reticulocytosis (>1000×109/L) with a peak reticulocyte percentage of 49%, and erythrocyte abnormalities, including Heinz bodies, Howell-Jolly bodies, and basophilic stippling. Manual reticulocyte counting and flow cytometric measurement with anti-CD71 antibodies supported a truly elevated reticulocyte count. Conclusions: We propose possible explanations for the extreme reticulocytosis that arose postsplenectomy and compare the reticulocyte count in the present case with previously published cases.

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Section: Discussionsupporting

confidence: 78%

Section: Discussionmentioning

confidence: 58%

mentioning

confidence: 99%

mentioning

confidence: 99%

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Extreme Reticulocytosis After Splenectomy in a Patient With Hemoglobin Mizuho

Narvestad-Bøttger,

Winther-Larsen,

Haugbølle Bjerre

et al. 2023

Journal of Pediatric Hematology/Oncology

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“…His HPLC showed elevated HbF (9.8%) and normal HbA 2 (2.3%), while the parents had a normal HPLC profile. Hence, to look for the possible cause of hemolytic anemia, targeted NGS was performed which showed a heterozygous mutation in the β globin gene at Codon 68 41 . A low oxygen affinity hemoglobin, heterozygous Hb Cheverly [β Codon 45 (T→C)] (HBB:c.137T>C) was identified in a 37‐year‐old man presenting with spurious hypoxemia and gaps in saturation 42 …”

Section: Resultsmentioning

confidence: 99%

Wide spectrum of novel and rare hemoglobin variants in the multi‐ethnic Indian population: A review

Thaker,

Mahajan,

Mukherjee

et al. 2024

Int J Lab Hematology

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The hemoglobin (Hb) variants are qualitative abnormalities due to production of structurally abnormal globin proteins. They are categorized based on the type of mutation present in the α1, α2, β, Gγ, Aγ and δ globin genes. So far, more than 1550 Hb variants are reported in the database. They could lead to Hb polymerization, Hb instability, altered oxygen affinity and decreased oxygen‐carrying capacity of Hb or have no clinical manifestations. In India, ethnic diversity, consanguinity, regional variations and migration result in the presence of different Hb variants. We have compiled all the variants of α, β and δ globin chains in heterozygous, homozygous and in compound heterozygous forms reported from India in the last 52 years. Of the 63 rare and novel hemoglobin variants reported from India, 22 were α‐globin chain variants, 37 were β‐globin chain variants and 4 were δ‐globin chain variants. Twelve novel Hb variants (Hb J Rajappan, Hb Koya Dora, Hb Rampa, Hb Godavari, Hb Chandigarh, Hb D Agri, Hb Lucknow, Hb Vellore, Hb Midnapore, Hb Bijnor, Hb A2Tianhe and Hb A2Saurashtra) were identified among persons of Indian origin. Majority of them were picked up on HPLC. Some of the variants like Hb Titusville, Hb Shimonoseki, Hb Chandigarh, Hb D Agri, Hb Yaizu and Hb Vellore eluted in the HbS window whereas variants like HbD Iran, Hb St. Louis, Hb G Coushata, HbM Saskatoon, Hb Lucknow, Hb Grange‐Blanche and Hb Tianshui showed falsely elevated HbA2. Hence, careful and systematic investigations are required to identify them.

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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

Chen

Wang

et al. 2023

Hemoglobin

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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

Cited by 4 publications

References 8 publications

Extreme Reticulocytosis After Splenectomy in a Patient With Hemoglobin Mizuho

Extreme Reticulocytosis After Splenectomy in a Patient With Hemoglobin Mizuho

Wide spectrum of novel and rare hemoglobin variants in the multi‐ethnic Indian population: A review

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

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