Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.L69P
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HBB

NM_000518.5:p.L69P

Associated Papers

Large-Scale Analysis of the Thalassemia Mutation Spectrum in Guizhou Province, Southern China, Using Third-Generation Sequencing.

Zhang Y et al.

Clinical Genetics, 2025

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

Thaker P et al.

International Journal of Laboratory Hematology, 2024

Extreme Reticulocytosis After Splenectomy in a Patient With Hemoglobin Mizuho.

Narvestad-Bøttger H et al.

Journal of Pediatric Hematology/oncology, 2024

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

Elieff O et al.

Hemoglobin, 2024

Identification of Novel Hb Guiyang [HBA2: c.151C > A α2 50 (CE8) His- Asn] and Phenotype- Genotype Correlation of Abnormal Hemoglobins in Guizhou, Southwest China.

Chen YP et al.

Journal of Blood Medicine, 2024

[Allogeneic hematopoietic stem cell transplantation in Hb Mizuho of unstable hemoglobinopathy: a case report].

Li C et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2023

A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran.

Soozangar N et al.

Human Genome Variation, 2023

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 YP et al.

Hemoglobin, 2023

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.

Tamana S et al.

Elife, 2022

36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-Full_dataset

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

Yadav DD et al.

Hemoglobin, 2021

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

Njue L et al.

Annals of Hematology, 2021

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf

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.

Perera PS et al.

Hemoglobin, 2015

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