Essentials of Hematology

Adams, Trevor L.; Latham, Gregory J.; Eisses, Michael J.; Bender, Michael A.; Haberkern, Charles M.

doi:10.1016/b978-0-323-42974-0.00010-0

Cited by 2 publications

(5 citation statements)

References 300 publications

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“…This method provides a means of identifying abnormal haemoglobin variants that cannot be identified by routine electrophoretic methods. It is especially helpful when variants other than S and C are present and which have identical migration on both cellulose acetate and citrate agar systems [23].…”

Section: Newborn Screening Methods For Thalassaemiasmentioning

confidence: 99%

“…They are also precipitated in mature or nucleated red cells as multiple, small, ragged inclusions due to the redox action of dyes such as brilliant cresyl blue. HbH inclusions are usually seen in Hb Bart's hydrops foetalis syndrome, HbH disease, and α-thalassaemia carrier states [23].…”

Section: Newborn Screening Methods For Thalassaemiasmentioning

confidence: 99%

“…α chain inclusions: In homozygous β-thalassaemia, α chain inclusions are seen only in nucleated red cells in bone marrow, or in peripheral blood after splenectomy. α chain inclusions appear as single, ragged structures closely attached to Newborn Screening and Thalassaemia Syndrome DOI: http://dx.doi.org/10.5772/intechopen.109302 the nucleus when peripheral blood or bone marrow sample is incubated with methyl violet, and the prepared films observed under microscope [23].…”

Section: Newborn Screening Methods For Thalassaemiasmentioning

confidence: 99%

“…The Thalassemia Syndromes -New Insights over of chromosomal material between homologous chromosomes during meiosis may 'separate' the polymorphic site from the abnormal gene; this will lead to a false negative result in the foetus [23].…”

Section: Confirmatory Diagnostic Testing For the Thalassaemiasmentioning

confidence: 99%

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Newborn Screening and Thalassaemia Syndrome

Iheanacho¹,

Okeke²

2023

Thalassemia Syndromes - New Insights and Transfusion Modalities

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Haemoglobin variants or haemoglobin disorders are a group of clinical disorders characterised by impairment of synthesis of normal adult haemoglobin, due to genetically determined abnormality in the formation of the globin moiety of the molecule. These disorders fall into two broad groups, that is qualitative (haemoglobinopathies) and quantitative (thalassaemias). In the anthropoids, the most common congenital single-gene disorder is the alteration of the globin genes which account for about 270 million carriers globally. These globin gene alterations cause low/no globin expression (thalassaemia) or abnormal globin protein production (haemoglobinopathy). The clinical manifestation of haemoglobin disorder is the culminated measure of one’s genetic and molecular makeup. Summarily, the study, diagnosis and management of thalassaemia are models of biological principles of human disease. Newborn screening, however, is a system that aims at improving management and/or eradication of genetic disorders from the neonatal stage of life. This chapter will be dealing with the definition and steps involved in newborn screening for thalassaemia.

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Section: Newborn Screening Methods For Thalassaemiasmentioning

confidence: 99%

Section: Newborn Screening Methods For Thalassaemiasmentioning

confidence: 99%

Section: Newborn Screening Methods For Thalassaemiasmentioning

confidence: 99%

Section: Confirmatory Diagnostic Testing For the Thalassaemiasmentioning

confidence: 99%

See 2 more Smart Citations

Newborn Screening and Thalassaemia Syndrome

Iheanacho¹,

Okeke²

2023

Thalassemia Syndromes - New Insights and Transfusion Modalities

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“…It is particularly common in the Mediterranean and Middle Eastern regions, with a higher incidence among males due to its X-linked inheritance pattern 3 . The G6PD enzyme plays a crucial role in protecting red blood cells from oxidative damage by producing nicotinamide adenine dinucleotide phosphate (NADPH), a reduced form of nicotinamide adenine dinucleotide 4 , 5 . Insufficient G6PD levels can lead to oxidative stress and compromise insulin secretion by beta cells 6 .…”

Section: Introductionmentioning

confidence: 99%

Risk of diabetes mellitus based on the interactive association between G6PD rs72554664 polymorphism and sex in Taiwan Biobank individuals

Chang,

Nfor,

Chou

et al. 2024

Sci Rep

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The presence of glucose-6-phosphate dehydrogenase (G6PD) deficiency may increase the risk of type 2 diabetes mellitus (T2DM), with differing prevalence between males and females. Although G6PD deficiency is an X-linked genetic condition, its interaction with sex regarding T2DM risk among the Taiwanese population has not been fully explored. This study aimed to investigate the association between G6PD deficiency and T2DM risk in the Taiwanese population, focusing on the potential influence of sex. Data were obtained from the Taiwan Biobank (TWB) database, involving 85,334 participants aged 30 to 70 years. We used multiple logistic regression analysis to assess the interaction between G6PD rs72554664 and sex in relation to T2DM risk. The T2DM cohort comprised 55.35% females and 44.65% males (p < 0.001). The TC + TT genotype of rs72554664 was associated with an increased risk of T2DM, with an odds ratio (OR) of 1.95 (95% CI: 1.39–2.75), and males showed an OR of 1.31 (95% CI: 1.19–1.44). Notably, the G6PD rs72554664-T allelic variant in hemizygous males significantly elevated the T2DM risk (OR), 4.57; p < 0.001) compared to females with the CC genotype. Our findings suggest that the G6PD rs72554664 variant, in conjunction with sex, significantly affects T2DM risk, particularly increasing susceptibility in males. The association of the G6PD rs72554664-T allelic variant with a higher risk of T2DM highlights the importance of sex-specific mechanisms in the interplay between G6PD deficiency and T2DM.

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Essentials of Hematology

Cited by 2 publications

References 300 publications

Newborn Screening and Thalassaemia Syndrome

Newborn Screening and Thalassaemia Syndrome

Risk of diabetes mellitus based on the interactive association between G6PD rs72554664 polymorphism and sex in Taiwan Biobank individuals

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