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https://www.readbyqxmd.com/read/28341428/renal-papillary-necrosis-in-patients-with-sickle-cell-disease-how-to-recognize-this-forgotten-diagnosis
#1
REVIEW
Michaël M E L Henderickx, Tim Brits, Karen De Baets, Mattias Seghers, Philip Maes, Dominique Trouet, Stefan De Wachter, Gunter De Win
INTRODUCTION: Renal papillary necrosis is not commonly seen in daily practice, but can have severe consequences when it is not diagnosed in time. It is known to be associated with sickle cell hemoglobinopathies; however a wide range of etiologies are possible, and it is therefore not the first diagnosis clinicians consider in patients with sickle cell disease who present with hematuria. METHODS: A literature search was performed to summarize the current knowledge about renal papillary necrosis associated with sickle cell disease...
March 7, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28333416/severe-transplant-associated-thrombotic-microangiopathy-in-patients-with-hemoglobinopathies
#2
Ghada A Abusin, Rolla Abu-Arja, Rajinder P S Bajwa, Edwin M Horwitz, Jeffery J Auletta, Hemalatha G Rangarajan
Incidence and severity of transplant-associated thrombotic microangiopathy (TA-TMA) in patients with hemoglobinopathies receiving hematopoietic cell transplant is unknown. We report the outcomes for two patients with TA-TMA who received eculizumab. A 2.5-year-old male with sickle cell disease developed TA-TMA-associated pericardial tamponade, severe hypertension, and acute kidney injury 2 months after transplant. A 7-year-old female with β-thalassemia major developed TA-TMA-related acute kidney injury, severe hypertension, and seizures at 6 months after transplant...
March 23, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28314763/endothelial-dysfunction-inhibits-the-ability-of-haptoglobin-to-prevent-hemoglobin-induced-hypertension
#3
Jan A Graw, Binglan Yu, Emanuele Rezoagli, H Shaw Warren, Emmanuel S Buys, Donald B Bloch, Warren M Zapol
BACKGROUND: Intravascular hemolysis produces injury in a variety of human diseases including hemoglobinopathies, malaria, and sepsis. The adverse effects of increased plasma hemoglobin are partly mediated by depletion of nitric oxide (NO) and result in vasoconstriction. Circulating plasma proteins haptoglobin and hemopexin scavenge extracellular hemoglobin and cell-free heme, respectively. METHODS: The ability of human haptoglobin or hemopexin to inhibit the adverse effects of NO-scavenging by circulating murine hemoglobin was tested in C57Bl/6 mice...
March 17, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28286631/hemoglobin-willamette-%C3%AE-51pro-%C3%A2-arg-case-report-and-literature-review
#4
Orivaldo Alves Barbosa, Matheus Martins de Sousa Dias, Saymon Medeiros Távora, Gentil Claudino de Galiza Neto, Jacqueline Holanda de Souza, Herivaldo Ferreira da Silva
We report a case of hemoglobin (Hb) Willamette (β51 Pro → Arg) in the Hematology Department of a tertiary hospital in Fortaleza, Northeast of Brazil. A literature review of the cases described in health sciences databases using as a descriptor Hb Willamette was performed, revealing 12 reported cases, of which only one presented with anemia. Herein, we describe a case of a female 29 years old, with hemoglobinopathy Willamette presenting clinically with anemia, having the lowest hemoglobin rate of the published cases...
February 23, 2017: Hematology Reports
https://www.readbyqxmd.com/read/28276872/a-comprehensive-screening-program-for-%C3%AE-thalassemia-and-other-hemoglobinopathies-in-the-hooghly-district-of-west-bengal-india-dealing-with-21%C3%A2-137-cases
#5
Kallol Kumar Bhattacharyya, Tridip Chatterjee, Ujjalendu Bikash Mondal
We here present a report of population screening programs (January 2012-December 2015) conducted by the Thalassemia Control Unit, Imambara Sadar Hospital, Chinsurah, Hooghly in the Hooghly District of West Bengal, India for prevention of thalassemia. We screened β-thalassemia (β-thal) heterozygotes and homozygotes, and Hb E (HBB: c.79G > A)-β-thal compound heterozygotes. Among 21 137 cases, we found 1968 heterozygotes and 192 homozygotes or compound heterozygotes. Results were evaluated with standard hematological analyses including red cell indices, hemoglobin (Hb) typing and quantification...
March 3, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28270766/clinical-impact-and-cellular-mechanisms-of-iron-overload-associated-bone-loss
#6
REVIEW
Viktória Jeney
Diseases/conditions with diverse etiology, such as hemoglobinopathies, hereditary hemochromatosis and menopause, could lead to chronic iron accumulation. This condition is frequently associated with a bone phenotype; characterized by low bone mass, osteoporosis/osteopenia, altered microarchitecture and biomechanics, and increased incidence of fractures. Osteoporotic bone phenotype constitutes a major complication in patients with iron overload. The purpose of this review is to summarize what we have learnt about iron overload-associated bone loss from clinical studies and animal models...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28270342/cholelithiasis-and-its-complications-in-sickle-cell-disease-in-a-university-hospital
#7
Raquel Alves Martins, Renato Santos Soares, Fernanda Bernadelli De Vito, Valdirene de Fátima Barbosa, Sheila Soares Silva, Helio Moraes-Souza, Paulo Roberto Juliano Martins
INTRODUCTION: The clinical manifestations of sickle cell disease are related to the polymerization of hemoglobin S. The chronic hemolysis caused by this condition often causes the formation of gallstones that can migrate and block the common bile duct leading to acute abdomen. OBJECTIVE: This study aimed to evaluate the profile of patients with sickle cell disease and cholelithiasis. METHODS: Patients with sickle cell disease were separated into groups according to the presence or absence of cholelithiasis...
January 2017: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/28263715/hemoglobinopathies-thalassemias-why-clinical-biochemists-need-to-know-about-them
#8
Trefor Higgins
No abstract text is available yet for this article.
March 2, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28256747/elbasvir-grazoprevir-for-patients-with-hepatitis-c-virus-infection-and-inherited-blood-disorders-a-phase-iii-study
#9
Christophe Hézode, Massimo Colombo, Marc Bourlière, Ulrich Spengler, Ziv Ben-Ari, Simone I Strasser, William M Lee, Leslie Morgan, Jingjun Qiu, Peggy Hwang, Michael Robertson, Bach-Yen Nguyen, Eliav Barr, Janice Wahl, Barbara Haber, Robert Chase, Rohit Talwani, Vito Di Marco
Direct-acting antiviral agents have not been studied exclusively in patients with inherited blood disorders and hepatitis C virus (HCV) infection. The objective of the randomized, placebo-controlled, phase III C-EDGE IBLD study was to assess the safety and efficacy of elbasvir/grazoprevir (EBR/GZR) in patients with inherited bleeding disorders and HCV infection. One hundred fifty-nine adults with HCV infection and sickle cell anemia, thalassemia, or hemophilia A/B or von Willebrand disease were enrolled at 31 study sites in the United States, Europe, Australia, Canada, Israel, and Thailand...
March 3, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28249925/hemoglobin-wayne-trait-with-incidental-polycythemia
#10
Manju Ambelil, Nghia Nguyen, Amitava Dasgupta, Semyon Risin, Amer Wahed
Hemoglobinopathies, caused by mutations in the globin genes, are one of the most common inherited disorders. Many of the hemoglobin variants can be identified by hemoglobin analysis using conventional electrophoresis and high performance liquid chromatography; however hemoglobin DNA analysis may be necessary in other cases for confirmation. Here, we report a case of a rare alpha chain hemoglobin variant, hemoglobin Wayne, in a 47-year-old man who presented with secondary polycythemia. Capillary zone electrophoresis and high performance liquid chromatography revealed a significant amount of a hemoglobin variant, which was further confirmed by hemoglobin DNA sequencing as hemoglobin Wayne...
January 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28244614/iron-deficiency-anemia-interfering-the-diagnosis-of-compound-heterozygosity-for-hb-constant-spring-and-hb-paks%C3%A3-the-first-case-report
#11
Thita Chiasakul, Noppacharn Uaprasert
BACKGROUND: Diagnosis of thalassemia or hemoglobinopathy concomitant with iron deficiency anemia (IDA) is challenging. METHOD: We report a case of 43-year-old female whose diagnosis of compound heterozygosity for hemoglobin Constant Spring (HbCS) and Hb Paksé became apparent after the treatment of IDA. RESULTS: Prior to treatment, Hb analysis using isoelectric focusing (IEF) showed HbA 95.6%, HbA2 2.7%, and HbCS 1.7% compatible with heterozygous HbCS...
February 28, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28229097/pediatric-hypovitaminosis-d-molecular-perspectives-and-clinical-implications
#12
Rafiu Ariganjoye
Vitamin D, a secosteroid, is essential for the development and maintenance of healthy bone in both the adult and pediatric populations. Low level of 25-hydroxy vitamin D (25-(OH)-D) is highly prevalent in children worldwide and has been linked to various adverse health outcomes including rickets, osteomalacia, osteomalacic myopathy, sarcopenia, and weakness, growth retardation, hypocalcemia, seizure and tetany, autism, cardiovascular diseases, diabetes mellitus, cancers (prostate, colon, breast), infectious diseases (viral, tuberculosis), and autoimmune diseases, such as multiple sclerosis and Hashimoto's thyroiditis...
2017: Global Pediatric Health
https://www.readbyqxmd.com/read/28223188/next-generation-sequencing-unravels-homozygous-mutation-in-glucose-6-phosphate-isomerase-gpic-1040g-a-p-arg347his-causing-hemolysis-in-an-indian-infant
#13
Manu Jamwal, Anu Aggarwal, Anirban Das, Arindam Maitra, Prashant Sharma, Shekhar Krishnan, Neeraj Arora, Deepak Bansal, Reena Das
INTRODUCTION: Inherited anemias diagnostic workup requires a step-wise algorithm. Causal genes implicated in congenital hemolytic anemia are numerous, making a gene-by-gene approach by Sanger sequencing time consuming, expensive and labour intensive. Targeted resequencing can be of great use in explaining these cases. METHODOLOGY: Six months female presented with neonatal jaundice and negative family history. Clinical and laboratory evidences were suggestive of hemolytic anemia...
February 20, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28203160/renal-medullary-carcinoma-with-an-aggressive-clinical-course-a-case-report-and-review-of-the-literature
#14
Madhumati R Kalavar, Sami Ali, Damoun Safarpour, Saroj Davi Kunnakkat
Renal medullary carcinoma (RMC) is a rare, yet aggressive malignancy of the kidney that is found predominantly in young patients with African descent and sickle cell hemoglobinopathies and most specifically sickle cell trait. Due to its aggressive nature, most cases have metastasis or local invasion at the time of diagnosis. Prognosis is extremely poor with survival less than 1 year after diagnosis. Here we present a case of metastatic RMC in a 29-year-old African female. Despite chemotherapy with cisplatin, gemcitabine, and paclitaxel, and initial shrinkage of the tumor, the patient died 5 months after diagnosis...
January 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28195097/phenotypic-expression-of-hbo-indonesia-in-two-indian-families-and-its-interaction-with-sickle-hemoglobin
#15
Amar Das Gupta, Anita Nadkarni, Pallavi Mehta, Manju Goriwale, Manisha Ramani, Pradnya Chaudhary, Vishal Mehrotra, Roshan Colah
BACKGROUND: Alpha globin chain variants are clinically significant since they directly influence the structure and function of the hemoglobin (Hb) molecules they constitute, either in combination with normal beta globin chains or with variant beta chains, thereby altering the morbidity and mortality associated with the resultant hemoglobinopathies. We describe here two unrelated families from Madhya Pradesh who had a nondeletional alpha-chain variant, HbO Indonesia (CD116 G → A). Members of one of the two families also had coinheritance of sickle hemoglobin (HbS)...
January 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/28162022/proteomic-analysis-of-red-blood-cells-and-the-potential-for-the-clinic-what-have-we-learned-so-far
#16
Angelo D'Alessandro, Lello Zolla
Red blood cells (RBC) are the most abundant host cells in the human body. Mature erythrocytes are devoid of nuclei and organelles and have always been regarded as circulating 'bags of hemoglobin'. The advent of proteomics has challenged this assumption, revealing unanticipated complexity and novel roles for RBCs not just in gas transport, but also in systemic metabolic homeostasis in health and disease. Areas covered: In this review we will summarize the main advancements in the field of discovery mode and redox/quantitative proteomics with respect to RBC biology...
March 2017: Expert Review of Proteomics
https://www.readbyqxmd.com/read/28139477/determination-of-toral-antioxidant-capacity-of-saliva-in-sickle-cell-anemic-patients-a-cross-sectional-study
#17
Sudhindra Baliga, Minal Chaudhary, Sham S Bhat, Poonam Bhatiya, Nilima Thosar, Pooja Bhansali
BACKGROUND: Sickle cell anemia is a congenital hemoglobinopathy characterized by deformed red blood cells. Oxidative stress plays an important role in the pathophysiology of sickle cell anaemia as it destroys free radicals, and thereby depleting the protective mechanisms such as antioxidants in serum. These antioxidants are essential to protect against harmful oxidation-reduction reactions preventing oxidative damage to the cells. AIM: To evaluate and compare the Total Antioxidant Capacity (TAC) of serum and saliva in sickle cell anemia patients...
January 2017: Journal of the Indian Society of Pedodontics and Preventive Dentistry
https://www.readbyqxmd.com/read/28134744/non-typhoidal-salmonella-osteomyelitis-in-immunocompetent-children-without-hemoglobinopathies-a-case-series-and-systematic-review-of-the-literature
#18
Alicia Gill, Martha Muller, David Pavlik, Jonathan Eldredge, Jennifer Johnston, Megan Eickman, Walter Dehority
Salmonella osteomyelitis is well-described in children with hemoglobinopathies, particularly infection with Salmonella typhi. To characterize non-typhoidal osteomyelitis in otherwise healthy children without hemoglobinopathies, we performed a retrospective review of children discharged from our institution with this condition, supplemented with a systematic literature review. Among the 46 subjects identified, common risk factors for Salmonella infection were frequently absent and complications were common.
January 26, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28125089/next-generation-sequencing-improves-thalassemia-carrier-screening-among-premarital-adults-in-a-high-prevalence-population-the-dai-nationality-china
#19
Jing He, Wenhui Song, Jinlong Yang, Sen Lu, Yuan Yuan, Junfu Guo, Jie Zhang, Kai Ye, Fan Yang, Fangfang Long, Zhiyu Peng, Haijing Yu, Le Cheng, Baosheng Zhu
PURPOSE: Thalassemia is one of the most common monogenic diseases in southwestern China, especially among the Dai ethnic group. Here, we explore the feasibility of a next-generation sequencing (NGS) screening method specifically for the Dai people. METHODS: Blood samples were obtained from Dai people for premarital screening. Double-blind, parallel hemoglobinopathy screening was conducted using both traditional hematological methods (red cell indexes and hemoglobin electrophoresis, then DNA sequencing) and an NGS approach...
January 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28110577/preconception-carrier-screening-and-prenatal-diagnosis-in-thalassemia-and-hemoglobinopathies-challenges-and-future-perspectives
#20
Joanne Traeger-Synodinos, Cornelis L Harteveld
Hemoglobinopathies constitute the most common severe monogenic disorders worldwide, with an increasing global burden each year. The benefit of applying programmes for preconception carrier screening, with the option of prenatal diagnosis, to minimize the incidence of new cases is recognized in many countries. Areas covered: The challenges associated with identifying carrier couples using hematology-based screening, along with DNA diagnosis and prenatal diagnosis were addressed, based on a literature search and the authors expertise...
March 2017: Expert Review of Molecular Diagnostics
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