A New β Chain Variant, Hb Tyne [β5(A2)Pro-&gt;ser]

Langdown, Jonathan; Williamson, D.; Beresford, C. H.; Gibb, I; Taylor, Richard D.; Deacon-Smith, R.

doi:10.3109/03630269408996199

Cited by 14 publications

(4 citation statements)

References 4 publications

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“…A study in diabetic twins indicated the importance of genetic factors in determining HbA 1c [8], suggesting that so‐called high glycaters have higher HbA 1c values and greater likelihood of developing complications than slow‐glycaters for a given glycaemic level. Abnormally low HbA 1c values due to point mutations in DNA encoding for HbA 0 have been reported, showing slower glycation in vitro and in vivo [9,10]. Hempe reported consistent inter‐individual differences between observed and predicted HbA 1c values at given mean blood glucose levels, also implying high and low glycation phenotypes [11].…”

Section: What Is Known About Poorly Controlled Patients?mentioning

confidence: 99%

Persistent poor glycaemic control in adult Type 1 diabetes. A closer look at the problem

DeVries¹,

Snoek

Heine³

2004

Diabetic Medicine

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Around 25% of the adult Type 1 diabetes population is in persistent poor glycaemic control and thus at increased risk of developing microvascular complications. We here discuss correlates of long-standing poor glycaemic control and review the efficacy of clinical strategies designed to overcome persistent poor control. Only a few studies have identified determinants and correlates of long-standing poor glycaemic control in Type 1 diabetes. There is some evidence implicating genetic factors, as well as lower economic status, and psychological factors, including lack of motivation, emotional distress, depression and eating disorders. Ways of improving glycaemic control include strategies to enable self-management, e.g. motivational strategies, coping-orientated education, psychosocial therapies, and/or intensifying insulin injection therapy plus continuous subcutaneous insulin infusion. Long-standing poor glycaemic control appears to be a heterogeneous and complex phenomenon, for which there is no simple, single solution. Comprehensive psycho-medical assessment in diabetes care may prove useful in tailoring interventions. Further research is warranted, to increase our understanding how psychosocial and biomedical factors, separately and in interaction, determine poor outcomes in Type 1 diabetes.

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Section: What Is Known About Poorly Controlled Patients?mentioning

confidence: 99%

Persistent poor glycaemic control in adult Type 1 diabetes. A closer look at the problem

DeVries¹,

Snoek

Heine³

2004

Diabetic Medicine

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“…There has been only one previous report of Hb Tyne where it was identified in two unrelated diabetic males. 1 There was no obvious hematological abnormality associated with either case and full blood counts were normal. The variant Hb was detected by cation exchange HPLC where it eluted close behind HbA.…”

Section: Introductionmentioning

confidence: 83%

Two Familial Cases of Hb Tyne Confirm Instability as Cause of Low Expression

Pullon

Brennan

2017

Thalassemia Reports

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We report a second occurrence of hemoglobin (Hb) Tyne, [β5 (A2) Pro>Ser] HBB:c.16C>T(p.Pro6Ser), which like the first case was associated with normal hematology. We verified the variant was mildly unstable by showing it was greatly enriched in isopropanol precipitates. This minor instability accounts for the slightly decreased expression of the new β chain. The variant was picked up as an interfering component on HbA1c testing using cation exchange high performance liquid chromatography (HPLC). However, this may be an advantage in detecting electrophoretically silent variants. Furthermore, this report also highlights the importance of uneven or sloping baselines on HPLC, which could reflect the presence of a variant hemoglobin even in the presence of normal electrophoresis and full blood count. 我们报告了第二例血红蛋白(Hb) Tyne [β5 (A2) Pro>Ser] HBB:c.16C>T(p.Pro6Ser)的出现，其与第一例一样伴随血象正常。我们通过将该变体在异丙醇沉淀物中的显著富集证实了其有轻度不稳定性。这种微小的不稳定性可用来说明新β链表达的轻微下降。该变体在使用阳离子交换高效液相色谱（HPLC）的HbA1c检测中作为干扰成分检出。然而，在检测电泳沉默变体方面这可能使一个优势。此外，本报告还强调了不平或倾斜的基线对HPLC的重要性，这会反映出血红蛋白变异体的存在，即使电泳和全血计数正常。

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“…However, Kabytaev et al (40) concluded that the clinical interpretation was relatively unaffected by the tiny net difference between HbAS (sickle phenotype) and uncharacterized total glycosylation. A summary of the altered glycosylation rates presented in mutants located in the first 10 amino acids of the β chain and at amino acid positions 139-140 is presented in Table II (41)(42)(43)(44).…”

Section: Interfering Factorsmentioning

confidence: 99%

Interpretation of HbA1c lies at the intersection of analytical methodology, clinical biochemistry and hematology (Review)

et al. 2022

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Over past few decades, diabetes has become widespread on a global scale. Hemoglobin A1c (HbA1c) assessment is crucial for diabetes care, since it allows for the monitoring of an individual's level of glycemic control over the course of 2 to 3 months and risk assessment to determine any possible complications. Numerous methods, including cation-exchange chromatography, electrophoresis, immunoassays and affinity chromatography, can be used to determine the HbA1c level. Each method has its limitations, however. The amount of HbA1c in patient samples is not only dependent on blood glucose levels, but is also strongly influenced by changes in red blood cell lifespan and globin chain structure. Consequently, hematological, clinical biochemistry and analytical methods all intertwine when interpreting HbA1c. There are numerous reports on the interactions of HbA1c with inherited and acquired diseases. Some of these impacts are inconsistent and difficult to explain. The present review article aimed to summarize and classify these effects and evaluate their clinical relevance. The findings discussed herein may serve as a reminder that clinical HbA1c values need to be analyzed with caution.

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A New β Chain Variant, Hb Tyne [β5(A2)Pro->ser]

Cited by 14 publications

References 4 publications

Persistent poor glycaemic control in adult Type 1 diabetes. A closer look at the problem

Persistent poor glycaemic control in adult Type 1 diabetes. A closer look at the problem

Two Familial Cases of Hb Tyne Confirm Instability as Cause of Low Expression

Interpretation of HbA1c lies at the intersection of analytical methodology, clinical biochemistry and hematology (Review)

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