Hb Hezhou [β64(E8)Gly→Ser; <i>HBB</i>: c.193G&gt;A]: A Novel Variant on the β-Globin Gene

Zhao, Yuanhui; Lin, Qingfang; He, Xiaowei; Li, Youqiong; Liang, Liang

doi:10.1080/03630269.2021.1908347

Cited by 8 publications

(2 citation statements)

References 7 publications

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“…However, although other mutations of codon 64 (position E8) have been reported, they result in mild instability at most, with relatively minor clinical phenotypes. The three previously described variants are Hb Hezhou [64(E8)GlySer, HBB: c.193G>A] [20], Hb J-Calabria [64(E8)GlyAsp, HBB: c.194G>A] [21,22] and Hb Aubagne [64(E8)GlyAla, HBB: c.194G>C] [23]. Hematological parameters revealed only slight anemia in a French woman carrying Hb Aubagne [23] and no hematological changes was found in patients carrying Hb J-Calabria [21,22] and Hb Hezhou [20].…”

Section: Discussionmentioning

confidence: 99%

“…The three previously described variants are Hb Hezhou [64(E8)GlySer, HBB: c.193G>A] [20], Hb J-Calabria [64(E8)GlyAsp, HBB: c.194G>A] [21,22] and Hb Aubagne [64(E8)GlyAla, HBB: c.194G>C] [23]. Hematological parameters revealed only slight anemia in a French woman carrying Hb Aubagne [23] and no hematological changes was found in patients carrying Hb J-Calabria [21,22] and Hb Hezhou [20]. A conceivable explanation of the more severe phenotype of Hb Calgary could be that the amino acid valine is larger than serine and alanine, and therefore the steric effect may be more prominent.…”

Section: Discussionmentioning

confidence: 99%

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Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype

Martin

Grimholt

et al. 2021

Hemoglobin

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We describe two unrelated patients, both heterozygous for an unstable hemoglobin (Hb) variant named Hb Calgary (HBB: c.194G>T) that causes severe hemolytic anemia and dyserythropoesis, resulting in transfusion dependence and iron overload. The molecular pathogenesis is a missense variation on the -globin gene, presumed to lead to an unstable Hb. The phenotype of Hb Calgary is particularly severe presenting as transfusion-dependent anemia in early infancy, precluding phenotypic diagnosis and highlighting the importance of early genetic testing in order to make an accurate diagnosis. KEYWORDS Autosomal dominant thalassemia; -globin variant; hemoglobinopathies; inclusion body thalassemia; unstable hemoglobin (Hb)

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype

Martin

Grimholt

et al. 2021

Hemoglobin

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The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation

Luo

Zeng²,

Tang³

et al. 2021

J Hum Genet

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To compare single-molecule real-time technology (SMRT) and conventional genetic diagnostic technology of rare types of thalassemia mutations, and to analyze the molecular characteristics and phenotypes of rare thalassemia gene variants, we used 434 cases with positive hematology screening as the cohort, then used SMRT technology and conventional gene diagnosis technology [(Gap-PCR, multiple ligation probe amplification technology (MLPA), PCR-reverse dot blot (RDB)] for thalassemia gene screening. Among the 434 enrolled cases, conventional technology identified 318 patients with variants (73.27%) and 116 patients without variants (26.73%), SMRT identified 361 patients with variants (83.18%), and 73 patients without variants (16.82%). The positive detection rate of SMRT was 9.91% higher than conventional technology. Combination of the two methods identified 485 positive alleles among 49 types of variant. The genotypes of 354 cases were concordant between the two methods, while 80 cases were discordant. Among the 80 cases, 76 cases had variants only identified in SMRT method, 3 cases had variants only identified in conventional method, and 1 false positive result by the traditional PCR detection technology. Except the three variants in HS40 and HBG1-HBG2 loci, which was beyond the design of SMRT method in this study, all the other discordant variants identified by SMRT were validated by further Sanger sequencing or MLPA. The hematological phenotypic parameters of 80 discordant cases were also analyzed. SMRT technology increased the positive detection rate of thalassemia genes, and detected rare thalassemia cases with variable phenotypes, which had great significance for clinical thalassemia gene screening.

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Hb Dahua [β59(E3)Lys→Met; HBB: c.179A>T] a Novel Variant on the β-Globin Gene

Qin

Huang

et al. 2021

Hemoglobin

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Hb Hezhou [β64(E8)Gly→Ser; HBB: c.193G>A]: A Novel Variant on the β-Globin Gene

Cited by 8 publications

References 7 publications

Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype

Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype

The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation

Hb Dahua [β59(E3)Lys→Met; HBB: c.179A>T] a Novel Variant on the β-Globin Gene

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