Hemoglobin Ty gard (αA2β2 124 (H2) Pro → Gln) a stable high O2 affinity variant at the α1β1 contact

Bursaux, E; Blouquit, Y.; Poyart, Claire; Rosa, J.; Arous, N.; Bohn, B.

doi:10.1016/0014-5793(78)80630-9

Cited by 32 publications

(7 citation statements)

References 21 publications

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“…Functional studies have shown that the oxygen affinity of Hb Ty Gard increases. [5] In 2019, Wahengbam et al [6] found that a 15-year-old Indian boy was a carrier of Hb Ty Gard. The hematological parameters of the boy were normal, and the Hb F level was increased (4.7%).…”

Section: Discussionmentioning

confidence: 99%

First report of a Chinese patient carrying Hb Ty Gard: A case report

2022

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Rationale: More than 1300 mutations which lead to abnormal hemoglobin (Hb) have been recorded in the HbVar database. Hb Ty Gard has rarely been reported and has not been reported in China.Patient concerns and Diagnoses: A 2-year-old Chinese girl was healthy with normal physical development and hematological parameters. Capillary electrophoresis suggested that Hb F increased slightly, while Hb A2 levels were normal. Flow cytometry, fluorescence hybridization, and Sanger sequencing were used to characterize the genotypes. Sanger sequencing detected a heterozygous mutation at codon 124 of the β-globin gene (HBB: c.374 C > A), which was previously reported as Hb Ty Gard in the HbVar database.Outcomes: We report the first case of HbTy Gard in a Chinese population. In areas with a high incidence of Hb diseases, sensitive detection of Hb components and accurate diagnosis of Hb variation are very important, and the combined application of capillary electrophoresis and gene sequencing can diagnose more Hb variants.

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Section: Discussionmentioning

confidence: 99%

First report of a Chinese patient carrying Hb Ty Gard: A case report

2022

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“…The same mutation at the analogous position in the beta subunit of HbA (N108K) is known to decrease oxygen affinity . In addition, LtEc also has three other substitutions relative to EfEc (H103Q in the A subunit, along with Q132F and G145D in the D subunit) that have been shown to decrease the oxygen affinity of HbA (D94H, P124Q, and G136D, respectively) . Overall, any or all of these isolated mutations could be responsible for the relatively low oxygen affinity of LtEc, but future mutational studies would be needed to confirm this hypothesis.…”

Section: Discussionmentioning

confidence: 99%

Direct comparison of oligochaete erythrocruorins as potential blood substitutes

Zimmerman

DiIusto

Dienes

et al. 2017

Bioengineering & Transla Med

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While many blood substitutes are based on mammalian hemoglobins (e.g., human hemoglobin, HbA), the naturally extracellular hemoglobins of invertebrates (a.k.a. erythrocruorins, Ecs) are intriguing alternative oxygen carriers. Specifically, the erythrocruorin of Lumbricus terrestris has been shown to effectively deliver oxygen in mice and rats without the negative side effects observed with HbA. In this study, the properties of six oligochaete Ecs (Lumbricus terrestris, Eisenia hortensis, Eisenia fetida, Eisenia veneta, Eudrilus eugeniae, and Amynthas gracilis) were compared in vitro to identify the most promising blood substitute candidate(s). Several metrics were used to compare the Ecs, including their oxidation rates, dissociation at physiological pH, thermal stability, and oxygen transport characteristics. Overall, the Ecs of Lumbricus terrestris (LtEc) and Eisenia fetida (EfEc) were identified as promising candidates, since they demonstrated high thermal and oligomeric stability, while also exhibiting relatively low oxidation rates. Interestingly, the O2 affinity of LtEc (P 50 = 26.25 mmHg at 37 °C) was also observed to be uniquely lower than EfEc and all of the other Ecs (P 50 = 9.29–13.62 mmHg). Subsequent alignment of the primary sequences of LtEc and EfEc revealed several significant amino acid substitutions within the D subunit interfaces that may be responsible for this significant change in O2 affinity. Nonetheless, these results show that LtEc and EfEc are promising potential blood substitutes that are resistant to oxidation and denaturation, but additional experiments will need to be conducted to determine their safety, efficacy, and the effects of their disparate oxygen affinities in vivo.

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“…Hb Ty Gard [a2P21 24(H2)Pro+Gln] was isolated from a French-Caucasian polycythemic subject who displayed a high oxygen affinity and did not belong to the family of the previously described case (26). On the basis of the amino acid composition and genetic code, the substitution was identified as Pro+Gln in PT-13, but the specific proline residue (either 124 or 125) which was substituted in the Hb Ty Gard PT-13 peptide was not defined.…”

Section: Hb Providence [A2p282(ef6)lys-+asn+asp]mentioning

confidence: 99%

New Results of Hemoglobin Variant Structure Determinats by Fast Atom Bombardment Mass Spectrometry

et al. 1990

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Fast atom bombardment mass spectrometry has already been used for the identification of mutations in abnormal human hemoglobin chains. This paper presents new results obtained with this technique. The methodology used here is compared with more conventional biochemical techniques and automated microsequencing. In every case, a well-chosen combination of peptide-high performance liquid chromatography, mass spectrometry, amino acid analysis, and sequence analysis led rapidly to the identification of the mutant. The high sensitivity of these techniques holds great promise for the analysis of molecular abnormalities in various genetic disorders presently detectable only by the application of a molecular biological approach.

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Hemoglobin Ty gard (α^A₂β₂ 124 (H₂) Pro → Gln) a stable high O₂ affinity variant at the α₁β₁ contact

Cited by 32 publications

References 21 publications

First report of a Chinese patient carrying Hb Ty Gard: A case report

First report of a Chinese patient carrying Hb Ty Gard: A case report

Direct comparison of oligochaete erythrocruorins as potential blood substitutes

New Results of Hemoglobin Variant Structure Determinats by Fast Atom Bombardment Mass Spectrometry

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