How I treat hypoxia in adults with hemoglobinopathies and hemolytic disorders

Machogu, Evans; Machado, Roberto F.

doi:10.1182/blood-2018-03-818195

Cited by 17 publications

(10 citation statements)

References 121 publications

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“…The differential diagnosis of chronic hypoxemia is broad and includes hemoglobinopathies that affect the affinity of Hb for oxygen [ 9 ]. Other conditions that can also cause chronic hypoxemia with varying symptomatology include diseases that lead to hypoventilation, such as neuromuscular disorders; ventilation-perfusion mismatch, such as with chronic lung disease (e.g., interstitial lung disease); right-to-left shunting potentially due to congenital heart malformations; and impaired oxygen diffusion capacity from alveoli to blood, as occurs with pulmonary fibrosis.…”

Section: Discussionmentioning

confidence: 99%

Hemoglobin Alpha Chain Variant Zara Associated With Familial Asymptomatic Hypoxemia

Pasquarella¹,

Miller²,

Wong³

et al. 2022

J Hematol

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Numerous hemoglobin (Hb) gene mutations have been identified, leading to a spectrum of phenotypes ranging from asymptomatic carrier states to complicated hemolytic anemias. We report a rare case of asymptomatic hypoxemia in a father and his teenage daughter both of whom were found to be carriers of Hb gene variant Zara. Workup for alternative cardiovascular causes of hypoxemia was unremarkable. Further sequencing of the alpha globin locus showed both individuals to be heterozygous for the Hb Zara c.274C>A (p.Leu92Ile) variant of unknown significance in the alpha2-globin gene. This is the first documented association of this Hb variant with familial asymptomatic hypoxemia, highlighting the importance of evaluating for hemoglobinopathies in patients with reduced oxygen saturation.

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Section: Discussionmentioning

confidence: 99%

Hemoglobin Alpha Chain Variant Zara Associated With Familial Asymptomatic Hypoxemia

Pasquarella¹,

Miller²,

Wong³

et al. 2022

J Hematol

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“…Therefore, mammals have evolved adaptive mechanisms to cope with hypoxia [2][3][4][5]. Hypoxia is also associated with human diseases such as cancers, cardiovascular diseases and anemia [15,16,40]. The development of high-throughput technologies has greatly enhanced the large-scale identification of proteins whose expression at the transcript or protein levels is modified during hypoxia, and an increasing number of proteins involved in regulating hypoxia have been verified.…”

Section: Discussionmentioning

confidence: 99%

“…The copyright holder for this preprint this version posted October 16, 2021. ; https://doi.org/10.1101/2021.10. 16.464637 doi: bioRxiv preprint updated since then. In 2017, Rashid et al developed the HRGFish database, which contains 818 hypoxia-responsive genes collected from 38 fishes [19].…”

Section: Introductionmentioning

confidence: 99%

iHypoxia: an integrative database of the expression dynamics of proteins in response to hypoxia in animals

Liu

Wang

Zhang

et al. 2021

Preprint

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Decreased oxygen concentrations (hypoxia) outside of the physiological range may severely subvert cell, tissue, and organism survival. Mammals have evolved mechanisms to sense hypoxia and induce a series of hypoxic responses. In recent years, high-throughput techniques have greatly promoted global perturbation studies of protein expression during hypoxia, and these studies have contributed to the understanding of the complex regulatory networks of hypoxia. In this study, we developed an integrated resource for the expression dynamics of proteins in response to hypoxia (iHypoxia), which contains 1,629 expression events of 1,215 proteins identified by low-throughput experiments (LTEs) and 154,953 quantitative expression events of 36,194 proteins identified by high-throughput experiments (HTEs) from five mammals that exhibit a response to hypoxia. Various experimental details such as the hypoxic experimental conditions, expression patterns, and samples were carefully collected and integrated. In addition, we conducted an orthologous search and identified 581,763 proteins that may respond to hypoxia among 50 animals. An enrichment analysis of human proteins identified from LTEs showed that these proteins were enriched in certain drug targets and cancer genes. The annotation of known posttranslational modification (PTM) sites to proteins identified by LTEs revealed that these proteins underwent extensive PTMs, particularly phosphorylation, ubiquitination and acetylation. Based on the results, iHypoxia provides a convenient and user-friendly method for users to obtain hypoxia-related information of interest. We anticipate that iHypoxia, which is freely accessible at http://ihypoxia.omicsbio.info, will advance the understanding of hypoxia and serve as a valuable data resource.

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“…Beta-thalassemia is a hereditary blood disorder caused by reduced (β +) or absent (β0) synthesis of the β-globin chains of hemoglobin. The variation in hemoglobin results in a reduction in oxygen affinity and oxygen carrying capacity, resulting in tissue hypoxia ( Machogu and Machado, 2018 ). A study involving 168 men aged 18 years or older with homozygous beta-thalassemia and 84 healthy age matched male volunteers showed that the incidence of hypogonadotropic hypogonadism was as high as 76% (128 men).…”

Section: Hypoxic Factors Causing Male Infertilitymentioning

confidence: 99%

Effects of Environmental and Pathological Hypoxia on Male Fertility

Wang

Gong

et al. 2021

Front. Cell Dev. Biol.

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Male infertility is a widespread health problem affecting approximately 6%–8% of the male population, and hypoxia may be a causative factor. In mammals, two types of hypoxia are known, including environmental and pathological hypoxia. Studies looking at the effects of hypoxia on male infertility have linked both types of hypoxia to poor sperm quality and pregnancy outcomes. Hypoxia damages testicular seminiferous tubule directly, leading to the disorder of seminiferous epithelium and shedding of spermatogenic cells. Hypoxia can also disrupt the balance between oxidative phosphorylation and glycolysis of spermatogenic cells, resulting in impaired self-renewal and differentiation of spermatogonia, and failure of meiosis. In addition, hypoxia disrupts the secretion of reproductive hormones, causing spermatogenic arrest and erectile dysfunction. The possible mechanisms involved in hypoxia on male reproductive toxicity mainly include excessive ROS mediated oxidative stress, HIF-1α mediated germ cell apoptosis and proliferation inhibition, systematic inflammation and epigenetic changes. In this review, we discuss the correlations between hypoxia and male infertility based on epidemiological, clinical and animal studies and enumerate the hypoxic factors causing male infertility in detail. Demonstration of the causal association between hypoxia and male infertility will provide more options for the treatment of male infertility

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How I treat hypoxia in adults with hemoglobinopathies and hemolytic disorders

Cited by 17 publications

References 121 publications

Hemoglobin Alpha Chain Variant Zara Associated With Familial Asymptomatic Hypoxemia

Hemoglobin Alpha Chain Variant Zara Associated With Familial Asymptomatic Hypoxemia

iHypoxia: an integrative database of the expression dynamics of proteins in response to hypoxia in animals

Effects of Environmental and Pathological Hypoxia on Male Fertility

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