Variant Haemoglobins

Bain, Barbara J.; Wild, Barbara; Stephens, A. D.; Phelan, Lorraine

doi:10.1002/9781444328318

Cited by 27 publications

(6 citation statements)

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“…Interestingly, the chromatography profile did not resemble that of any M haemoglobin found in two independent databases of haemoglobin variants 7. The best accepted match according to both of these databases was haemoglobin Q (HbQ) India.…”

Section: Discussionmentioning

confidence: 93%

HbM methaemoglobinaemia as a rare case of early neonatal benign cyanosis

et al. 2015

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Early neonatal central cyanosis that is unrelated to cardiopulmonary causes, alerts clinicians to possibility of methaemoglobinaemia. Congenital methaemoglobinaemia due to haemoglobin M is an autosomal dominant disorder characterised by lifelong cyanosis. We report a case presentation and review of diagnostic pitfalls of a newborn who presented with central cyanosis; investigations revealed a low methaemoglobin reductase (2.2 IU/g Hb), with normal maternal levels (9.1 IU/g Hb). Therefore, haemoglobinopathy investigations were completed on the mother and her baby, which showed an α-globin variant in both. The maternal α2 globin gene sequencing showed heterozygosity for haemoglobin M Boston (α58 His→Tyr).

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Section: Discussionmentioning

confidence: 93%

HbM methaemoglobinaemia as a rare case of early neonatal benign cyanosis

et al. 2015

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“…First, we estimated the ratio of %α glycated to %β glycated for HbA to be 0.64 based on Roberts, et al [12]. The amount of βS in HbAS subjects is generally ~40% [13]. Using the experimentally determined ratio of percentages of glycated βS to glycated βA of 1.19, i.e.…”

Section: Discussionmentioning

confidence: 99%

Higher degree of glycation of hemoglobin S compared to hemoglobin A measured by mass spectrometry: Potential impact on HbA1c testing

Kabytaev

Connolly

Rohlfing

et al. 2016

Clinica Chimica Acta

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BACKGROUND Glycated hemoglobin (GHb), reported as HbA1c, is used as marker of long-term glycemia for diabetic patients. HbA1c results from boronate affinity methods are generally considered to be unaffected by most hemoglobin variants; this assumes comparable glycation of variant and non-variant (HbAA) hemoglobins. In this report, glycation of HbA beta chain (βA) and HbS beta chain (βS) for the most common Hb variant trait (HbAS) are examined. METHODS We analyzed 41 blood samples from subjects with HbAS, both with and without diabetes. Using LC-MS, ratios of glycated HbS to glycated HbA were determined by comparison of areas under the curves from extracted ion chromatograms. RESULTS Glycation of βS chains was significantly higher (p<0.001) than βA chains; this difference was consistent across subjects. Total (α+β) glycated HbAS was theoretically estimated to be ~5% higher than glycated HbAA. CONCLUSION This novel mass-spectrometric approach described allows for relative quantification of glycated forms of βS and βA. Although βS glycation was significantly higher than that of βA, the difference in total glycation of HbAS versus HbAA was smaller and unlikely to impact clinical interpretation of boronate affinity HbA1c results. These data support the continued use of boronate affinity to measure HbA1c in patients with HbAS.

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“…Recent studies suggest that universal screening could prevent early childhood mortality in SCD, since unscreened patients in low-prevalence regions in developed countries are at greater risk for life-threatening complications during early childhood 158–161 . Moreover, prevalence of SCD is steadily increasing in European countries due to immigration 162–166 , requiring additional healthcare support and expanded screening programs, requiring additional healthcare support and expanded screening programs. Screening platforms adapted for mobile phone use in the developing world could increase patient engagement in resource rich settings, by giving patients their own mobile diagnostic.…”

Section: Scd Screening At the Pocmentioning

confidence: 99%

“…The technique uses an applied electrical field across a gel medium with a fixed pH gradient, in which each Hb type becomes immobilized once it reaches its pI. IEF exhibits higher resolution than Hb electrophoresis, thus it is capable of distinguishing between a larger number of Hb variants 165, 166 . However, due to the larger number of bands that this higher resolution results in, IEF results are harder to interpret 164,165 .…”

Section: Scd Screening At the Pocmentioning

confidence: 99%

Emerging point-of-care technologies for sickle cell disease screening and monitoring

Alapan

Fraiwan

Kucukal

et al. 2016

Expert Review of Medical Devices

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Introduction Sickle Cell Disease (SCD) affects 100,000 Americans and more than 14 million people globally, mostly in economically disadvantaged populations, requires early diagnosis after birth and constant monitoring throughout the life-span of the patient. Areas Covered Early diagnosis of SCD still remains a challenge in preventing childhood mortality in the developing world due to requirements of skilled personnel and high-cost of currently available modalities. On the other hand, SCD monitoring presents insurmountable challenges due to heterogeneities among patient populations, as well as in the same individual longitudinally. Here, we describe emerging point-of-care micro/nano platform technologies for SCD screening and monitoring, and critically discuss current state-of-the-art, potential challenges associated with these technologies, and future directions. Expert Commentary Recently developed microtechnologies offer simple, rapid, and affordable screening of SCD and have the potential to facilitate universal screening in resource-limited settings and developing countries. On the other hand, monitoring of SCD is more complicated compared to diagnosis and requires comprehensive validation of efficacy. Early use of novel microdevices for patient monitoring might come in especially handy in new clinical trial designs of emerging therapies.

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Variant Haemoglobins

Cited by 27 publications

References 0 publications

HbM methaemoglobinaemia as a rare case of early neonatal benign cyanosis

HbM methaemoglobinaemia as a rare case of early neonatal benign cyanosis

Higher degree of glycation of hemoglobin S compared to hemoglobin A measured by mass spectrometry: Potential impact on HbA1c testing

Emerging point-of-care technologies for sickle cell disease screening and monitoring

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