A Mother and Newborn with Brown Blood

Estey, Mathew P.; Clarke, Gwen; Sia, Winnie; Toor, E. J.; Higgins, Trefor

doi:10.1373/clinchem.2013.220467

Cited by 7 publications

(14 citation statements)

References 9 publications

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“…The best accepted match according to both of these databases was haemoglobin Q (HbQ) India. Subsequently, Q India and haemoglobin M overlap has been described recently by Estey et al (2015), for the same baby and his mother 8. Therefore, α-globin gene sequencing was also performed.…”

Section: Discussionmentioning

confidence: 87%

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: 87%

HbM methaemoglobinaemia as a rare case of early neonatal benign cyanosis

et al. 2015

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“…Since chemical characterizations of Hb M were first reported in the late 1950s and early 1960s by Gerald [6, 7], the rare globin chain variants have been investigated by chromatography, electrophoresis, and gene sequencing [1, 2, 5].…”

Section: Discussionmentioning

confidence: 99%

“…Hb M caused by a mutation in α-, β-, or γ-globin can lead to spontaneous oxidation of the ferrous ion in the heme and cannot transport or release oxygen in tissues. Hb M disease causes cyanosis that is unresponsive to oxygen therapy [1, 2]. Some variants might need to be considered in the differential diagnosis of central cyanosis in newborns because they cause cyanosis from birth.…”

Section: Introductionmentioning

confidence: 99%

Exon sequencing of the alpha-2-globin gene for the differential diagnosis of central cyanosis in newborns: a case report

et al. 2019

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Background Cyanosis is usually associated with serious conditions requiring urgent treatment in the neonatal intensive care unit (NICU). Hemoglobin M (Hb M) disease is one type of congenital methemoglobinemia characterized by cyanosis. Among these variants, α-globin chain mutations such as Hb M Boston present cyanosis from birth while other variants usually manifest later in life. Case presentation We report a case of a male newborn with cyanosis apparent since birth. Surprisingly, his respiratory and hemodynamic status including normal arterial blood oxygen saturation was stable, but oxygen saturation on pulse oximetry did not increase after 100% supplemental oxygen was started. In addition to routine pulmonary and cardiologic evaluation, further evaluation for dyshemoglobin was conducted; α2-globin gene sequencing showed a single-point variant causing Hb M Boston. Methemoglobin (MetHb) level estimated by co-oximetry was normal. After a 14-day stay in the NICU, the patient remained respiratory and hemodynamically stable without supplemental oxygen except for cyanosis. Conclusions Hb M disease is a benign disease and does not require any treatment whereas acquired methemoglobinemia is a potentially fatal condition. Neonatologists should be aware that low oxygenation status on pulse oximetry in the face of normal arterial blood saturation values might indicate the possibility of Hb M disease in early neonatal cyanosis, irrespective of MetHb value.

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“…b The representative base peak chromatogram of tryptic peptides of experimental sample where the signature peptide eluted at 51.90 min (encircled peak). c Tandem mass spectra (MS/MS) of the signature peptide with m/z 3018.5, obtained as PLGS analysis output with 'b' and 'y' ions labeled HbQ India (Mathew et al 2011;Dorn-Beineke and Frietsch 2002;Estey et al 2015). In cation exchange HPLC method, the obtained elution profiles of different hemoglobin variants in the experimental sample are matched with instrument library retention time of known variants and the sample is characterized accordingly.…”

Section: Discussionmentioning

confidence: 99%

Mass Spectrometry-Based Diagnosis of Hemoglobinopathies: A Potential Tool for the Screening of Genetic Disorder

et al. 2016

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Hemoglobinopathies are caused by point mutation in globin gene that results in structural variant of hemoglobin. While 7 % of world populations are carrier of hemoglobinopathies, the prevalence of the disease varies between 3 to 17 % across different population groups in India. In a diagnostic laboratory, alkaline gel electrophoresis and cation exchange-based HPLC (CE-HPLC) are most widely used techniques for characterization of hemoglobin variants. In the above methods, the differential surface charge of hemoglobin molecule in variants is exploited for their characterization. Sometime, co-migration of variants in gel electrophoresis and co-elution or elution with unknown retention time in automated CE-HPLC might lead to ambiguity in the analysis of hemoglobinopathies. Under such circumstances, it is necessary to use other analytical methods that provide unambiguous results. Mass spectrometry-based proteomics approach and DNA sequence analysis are examples of such alternative methods. In the present study, liquid chromatography coupled to mass spectrometry has been used for three commonly observed variants in India, e.g., HbE, HbQ India and HbD Punjab that appeared with inappropriate results in the conventional analysis. A customized hemoglobin variant database has been used in the mass spectrometry-based analysis of those three variants. Mass spectrometry-based proteomics approach was used to analyze above variant sample accurately.

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A Mother and Newborn with Brown Blood

Cited by 7 publications

References 9 publications

HbM methaemoglobinaemia as a rare case of early neonatal benign cyanosis

HbM methaemoglobinaemia as a rare case of early neonatal benign cyanosis

Exon sequencing of the alpha-2-globin gene for the differential diagnosis of central cyanosis in newborns: a case report

Mass Spectrometry-Based Diagnosis of Hemoglobinopathies: A Potential Tool for the Screening of Genetic Disorder

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