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sickle cell trait

Heather Reagin, Etan Marks, Stephen Weis, Joseph Susa
We report a case in which a 43-year-old African American male with medical history of sickle cell disease (SCD) presented with a nonhealing ulcer. Biopsy revealed features of livedoid vasculopathy. Previously, livedoid vasculopathy had only been described in a patient with sickle cell trait, but never in a patient with SCD. Livedoid vasculopathy most commonly affects the distal lower extremities and is characterized by irregular, punched-out, painful ulcers that heal with stellate white scars of atrophie blanche...
February 28, 2018: American Journal of Dermatopathology
Darrell E Singer, Ligong Chen, Stephanie Shao, Jonathan Goldsmith, Celia Byrne, David W Niebuhr
Introduction: Sickle cell trait (SCT) affects an estimated 5.02% of non-Hispanic blacks, 1.08% of Hispanics, and 0.1% of Whites in the U.S. military. Policies for SCT screening and occupational restrictions vary by service. Population-based studies of SCT with quantification of military-relevant outcomes are lacking. Methods: The study design was a retrospective cohort of 15,081 SCT-positive versus 60,320 SCT-negative U.S. active duty personnel enlisted from 1992 to 2012 and followed through 2013...
March 1, 2018: Military Medicine
Amre Nasr, Ayman M Saleh, Muna Eltoum, Amir Abushouk, Anhar Hamza, Ahmad Aljada, Mohamed E El-Toum, Yousif A Abu-Zeid, Gamal Allam, Gehad ElGhazali
Fulani and Masaleit are two sympatric ethnic groups in western Sudan who are characterised by marked differences in susceptibility to Plasmodium falciparum malaria. It has been demonstrated that Glucose-6-phosphate dehydrogenase (G6PD) deficiency and Sickle cell trait HbAS carriers are protected from the most severe forms of malaria. This study aimed to investigate a set of specific IgG subclasses against P. falciparum Apical Membrane Antigen 1 (AMA-1 3D7), haemoglobin variants and (G6PD) in association with malaria susceptibility among Fulani ethnic group compared to sympatric ethnic group living in Western Sudan...
February 24, 2018: Acta Tropica
William J Sanders
Background: Sickle cell trait is usually an asymptomatic presentation of a patient with slightly different hemoglobin molecule makeup than normal. It is similar to a more serious disease, sickle cell disease, in which a person's hemoglobin is mutated in such a way that causes their red blood cells to easily change shape in certain environmental and internal states; this causes red blood cells to adhere to the walls and occlude the lumen of the arteries in which they travel, leading to downstream effects secondary to ischemia...
2018: BMC Hematology
Santosh L Saraf, Justin R Sysol, Alexandru Susma, Suman Setty, Xu Zhang, Krishnamurthy P Gudehithlu, Jose A L Arruda, Ashok K Singh, Roberto F Machado, Victor R Gordeuk
Homozygosity for the hemoglobin (Hb) S mutation (HbSS, sickle cell anemia) results in hemoglobin polymerization under hypoxic conditions leading to vaso-occlusion and hemolysis. Sickle cell anemia affects 1:500 African Americans and is a strong risk factor for kidney disease, although the mechanisms are not well understood. Heterozygous inheritance (HbAS; sickle cell trait) affects 1:10 African Americans and is associated with an increased risk for kidney disease in some reports. Using transgenic sickle mice, we investigated the histopathologic, ultrastructural, and gene expression differences with the HbS mutation...
February 2, 2018: Translational Research: the Journal of Laboratory and Clinical Medicine
Sarah Skinner, Vincent Pialoux, Bérengère Fromy, Dominique Sigaudo-Roussel, Philippe Connes
No abstract text is available yet for this article.
February 16, 2018: Lancet Diabetes & Endocrinology
Samuel Lessard, Mélissa Beaudoin, Stuart H Orkin, Daniel E Bauer, Guillaume Lettre
In humans, fetal erythropoiesis takes place in the liver whereas adult erythropoiesis occurs in the bone marrow. Fetal and adult erythroid cells are not only produced at different sites, but are also distinguished by their respective transcriptional program. In particular, whereas fetal erythroid cells express γ-globin chains to produce fetal hemoglobin (HbF), adult cells express β-globin chains to generate adult hemoglobin. Understanding the transcriptional regulation of the fetal-to-adult hemoglobin switch is clinically important as re-activation of HbF production in adult erythroid cells would represent a promising therapy for the hemoglobin disorders sickle cell disease and β-thalassemia...
February 8, 2018: Human Molecular Genetics
Darrell E Singer, Celia Byrne, Ligong Chen, Stephanie Shao, Jonathan Goldsmith, David W Niebuhr
Introduction: A number of studies have found an association between sickle cell trait (SCT) and exertional heat illnesses (EHIs) including heat stroke, a potentially fatal condition. The strength of this association varied across studies, limiting the ability to quantify potential benefits of SCT-screening policies for competitive athletics and military service members. We determined the relative rate and attributable risk of developing EHI associated with being SCT positive and the EHI health care utilization...
February 5, 2018: Military Medicine
Rachel Lampert, Douglas P Zipes
Professional society recommendations to decrease sudden cardiac death in athletes, including eligibility requirements with disqualification for athletes with diagnosed disease as well as preparticipation screening and emergency preparedness, were updated in 2015. The update includes new sections on aortic disease, channelopathies, and sickle cell trait, as well as a change in format from the previous binary yes/no format to the more nuanced and contemporary "class and level of evidence" format. Eighty-four of the 246 recommendations now carry Class II designation-"reasonable," or "may be considered...
January 29, 2018: Annual Review of Medicine
Yohan Bodokh, Damien Ambrosetti, Valérie Kubiniek, Branwel Tibi, Matthieu Durand, Jean Amiel, Morgane Pertuit, Anne Barlier, Florence Pedeutour
Seven cases of translocation-associated renal cell carcinoma involving ALK (ALK-tRCC) were referenced in the last World Health Organization's classification (2016), in a group of emerging/provisional RCC. The first three cases were pediatric, medullary-based, associated with sickle-cell trait and showed a fusion of ALK with VCL. Thirteen cases have been further described. They displayed clinical, morphological and genomic heterogeneity. Most of them occurred in adults. None of the patients was affected by sickle-cell disease...
February 2018: Cancer Genetics
Sandeep Warghade, Jyothi Britto, Reshma Haryan, Tejaswi Dalvi, Rajesh Bendre, Pratiksha Chheda, Sunmeet Matkar, Yogita Salunkhe, Milind Chanekar, Nilesh Shah
CONTEXT: Hemoglobinopathies constitute the world's most common genetically inherited red blood cell disorder. Screening and accurate identification of hemoglobin (Hb) variants have become increasingly important in antenatal diagnosis and prevention of Hb disorders. AIM: The aim of this study was to screen and identify Hb fractions prevalent in the Central Reference Laboratory of India. MATERIALS AND METHODS: A total of 65,779 cases were screened for hemoglobinopathies on the bio-rad variant high-performance liquid chromatography (HPLC) system by beta-thalassemia short program...
January 2018: Journal of Laboratory Physicians
Yamila Goenaga-Vázquez, Gloria Colón, Nilka Barrios, María Correa
Renal medullary carcinoma (RMC) is a highly aggressive and rare malignancy found almost exclusively in young patients with sickle cell trait (SCT). Metastatic disease is commonly present at diagnosis. There is very limited experience treating disseminated disease and the prognosis is dismal. We report the case of a young 9-year-old boy with SCT, who presented with 4 months' progression of abdominal pain, nausea and vomiting associated with cough spells, dysphagia, and weight loss. Upon evaluation, he was underweight, pale, and in mild respiratory distress...
February 2, 2018: CEN Case Reports
Amani M Al-Amodi, Neda Z Ghanem, Sumayh A Aldakeel, Lubna Ibrahim Al Asoom, Nazish Rafique Ahmed, Noor B Almandil, Zaki A Naserullah, Sana Al-Jarrash, Mohammed Shakil Akhtar, Sayed AbdulAzeez, Amein K Al-Ali, J Francis Borgio
INTRODUCTION: Detection of β-thalassemia trait or carriers (β-TT) depends significantly on an increase in Hemoglobin A2 (HbA2) levels, which is found at low levels (<3%) in normal healthy individuals and elevated levels (≥3.5%) in β-TT individuals. The study was designed to evaluate the reliability of the diagnostic parameter HbA2 in the differentiation of β-TT and non-β-TT in Saudis. METHODS: The widely used high performance liquid chromatography (Variant II Bio-Rad) was used to measure HbA2 levels in blood...
January 31, 2018: Current Medical Research and Opinion
Matt Ravenhall, Susana Campino, Nuno Sepúlveda, Alphaxard Manjurano, Behzad Nadjm, George Mtove, Hannah Wangai, Caroline Maxwell, Raimos Olomi, Hugh Reyburn, Christopher J Drakeley, Eleanor M Riley, Taane G Clark
Significant selection pressure has been exerted on the genomes of human populations exposed to Plasmodium falciparum infection, resulting in the acquisition of mechanisms of resistance against severe malarial disease. Many host genetic factors, including sickle cell trait, have been associated with reduced risk of developing severe malaria, but do not account for all of the observed phenotypic variation. Identification of novel inherited risk factors relies upon high-resolution genome-wide association studies (GWAS)...
January 2018: PLoS Genetics
Eugenio O Gerscovich, Simran Sekhon, Thomas W Loehfelm, Adam Greenspan
Proximal femoral focal deficiency is an extremely rare congenital anomaly with only a few case reports in the literature. This case illustrates one diagnosed by prenatal ultrasound. The diagnosis may be isolated or associated with other abnormalities and syndromes. This report describes the early obstetrical ultrasound diagnosis, its evolution and associated findings throughout pregnancy. To the best of our knowledge, it is the first report associating this diagnosis with sickle cell trait. Another finding in our patient was a concomitant intrauterine growth restriction that we attribute to placental infarctions and a retro placental hemorrhage, also on the basis of sickle cell trait...
December 2017: Journal of Ultrasonography
David Buziashvili, Richard S Zeri, Tom Reisler
No abstract text is available yet for this article.
2018: Eplasty
Fekri Samarah, Mahmoud A Srour
Background: Vascular thrombosis is an important pathophysiological aspect of sickle cell disease (SCD). This study aimed to investigate the prevalence and clinical impact of factor V Leiden G1691A (FVL) and prothrombin G20210A mutations among Palestinian sickle cell disease (SCD) patients. Methods: A total of 117 SCD patients, including 59 patients with sickle cell anemia (SS), 33 patients with sickle β-thalassemia and 25 individuals with sickle cell trait (AS) were studied...
2018: BMC Hematology
James P Wirth, Rashid Ansumana, Bradley A Woodruff, Aminata S Koroma, Mary H Hodges
OBJECTIVE: By measuring the associations between the presence of sickle cell and β-thalassemia genes, we assessed the extent to which these hemoglobinopathies contribute to the high prevalence of anemia observed in preschool-aged children and women of reproductive age in Sierra Leone. RESULTS: The prevalence of anemia was statistically significantly higher in children with homozygous sickle cell genes (HbSS) than in children with normal hemoglobin genes (HbAA or HbAC), but there was no difference in anemia prevalence in those with heterozygous sickle cell trait (HbAS or HbSC) compared with those with normal hemoglobin genes...
January 17, 2018: BMC Research Notes
Anil P George, Antonio Logan, Mindy Simpson, Paul M Kent
No abstract text is available yet for this article.
January 12, 2018: Journal of Pediatric Hematology/oncology
Uday Yanamandra, Reena Das, Pankaj Malhotra, Subhash Varma
A 24-year-old man presented with acute abdominal pain upon ascent to moderate altitude (3500 m). An immediate evaluation revealed a splenic infarct, and he was evacuated to sea level. Upon recovery, he was sent back to 3500 m without detailed etiological evaluation, whereupon he experienced recurrent episodes of left-side subcostal pain. Imaging suggested autosplenectomy, and workup revealed a negative thrombophilia profile but was positive for sickle cell trait (SCT). Individuals with SCT can be asymptomatic until exposure to severe hypoxia, upon which they can manifest clinically as sickle cell syndrome...
January 10, 2018: Wilderness & Environmental Medicine
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