Advances in detection of hemoglobinopathies

BackgroundIn Brazil, there have been no previous studies of Toxoplasma gondii infection in sickle cell anemia patients and carriers of severe forms of beta-thalassemia. This study evaluated T. gondii infection in patients with beta-hemoglobinopathies.MethodsA total of 158 samples, 77 (48.7%) men and 81 (51.3%) women, were evaluated. Three groups were formed: G1 (85 patients with sickle cell disease); G2 (11 patients with homozygous beta-thalassemia; G3 (62 patients with heterozygous beta-thalassemia). ELISA was employed to identify anti-T. gondii IgM and IgG antibodies, and molecular analysis was performed to determine beta-hemoglobin mutations. Fisher’s exact test was used to compare frequencies of anti-T. gondii IgM and IgG antibodies in respect to gender and age.ResultsAnti-T. gondii IgG antibodies were found in 43.5% of individuals in G1, 18.1% in G2 and 50% in G3. All samples from G1 and G2 were seronegative for anti-T. gondii IgM antibodies, but 3.2% from G3 were seropositive. Considering anti-T. gondii IgG antibodies, no statistical significant differences were found between these groups nor in seroprevalence between genders within each group. Despite this, comparisons of the mean ages between G1, G2 and G3 were statistically significant (G2 vs. G1: p value = 0.0001; G3 vs. G1: p-value <0.0001; G3 vs. G2: p-value = 0.0001).ConclusionA comparison by age of patients with sickle cell anemia showed a trend of lower risk of infection among younger individuals. Therefore, this study demonstrates that T. gondii infection occurs in patients with beta-thalassemia and sickle cell anemia in Brazil as seen by the presence of anti-T. gondii IgM and IgG antibodies.

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“…The variability in the disease phenotypes ranges from clinically asymptomatic to severe anemia [5, 6]. …”

Section: Introductionmentioning

confidence: 99%

Anti-Toxoplasma gondii antibodies in patients with beta-hemoglobinopathies: the first report in the Americas

et al. 2017

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“…Although hemoglobin A is expressed in~95% of the population, there are more than 1200 know variant hemoglobin forms [48,49]. There is great interest and need for the accurate detection and assignment of hemoglobin variants chains, not only for the blood glucose assessment but for the potential diagnosis of other medical disorders (sickle cell anemia, thalassemia) [50,51]. Although MALDI-TOF MS may not be suitable for distinguishing all variants, as cases exist where the mass difference between forms is only ±1 Da (i.e., HbC and HbE), there are many other hemoglobin variants that are expected to be readily detectable.…”

Section: Discussionmentioning

confidence: 99%

Analysis and Quantitation of Glycated Hemoglobin by Matrix Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry

Hattan

Parker

Vestal

et al. 2016

J. Am. Soc. Mass Spectrom.

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Abstract. Measurement of glycated hemoglobin is widely used for the diagnosis and monitoring of diabetes mellitus. Matrix assisted laser desorption/ionization (MALDI) time of flight (TOF) mass spectrometry (MS) analysis of patient samples is used to demonstrate a method for quantitation of total glycation on the β-subunit of hemoglobin. The approach is accurate and calibrated with commercially available reference materials. Measurements were linear (R 2 > 0.99) across the clinically relevant range of 4% to 20% glycation with coefficients of variation of ≤ 2.5%. Additional and independent measurements of glycation of the α-subunit of hemoglobin are used to validate β-subunit glycation measurements and distinguish hemoglobin variants.Results obtained by MALDI-TOF MS were compared with those obtained in a clinical laboratory using validated HPLC methodology. MALDI-TOF MS sample preparation was minimal and analysis times were rapid making the method an attractive alternative to methodologies currently in practice.

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“…If there is evidence of microcytic anaemia, clinical evidence of haemoglobinopathy or family history of the same, haemoglobin electrophoresis, and/or genetic studies are suggested (fig 1). 13 Clinical laboratories that measure HbA1c will have procedures in place to deal with haemoglobin variants or haemoglobinopathy detected during analyses. As different methods and analysers are affected differently by haemoglobin variants, if a variant is suspected it might be necessary to use an alternative method not prone to interferences.…”

Section: What Is the Next Investigation When A Discordant Hba1c And Gmentioning

confidence: 99%

Monitoring glycaemic control in patients with diabetes mellitus

Sodi

McKay²,

Dampetla

et al. 2018

BMJ

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Advances in detection of hemoglobinopathies

Cited by 70 publications

References 61 publications

Anti-Toxoplasma gondii antibodies in patients with beta-hemoglobinopathies: the first report in the Americas

Anti-Toxoplasma gondii antibodies in patients with beta-hemoglobinopathies: the first report in the Americas

Analysis and Quantitation of Glycated Hemoglobin by Matrix Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry

Monitoring glycaemic control in patients with diabetes mellitus

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