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Thalassemia

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https://www.readbyqxmd.com/read/28641093/hematological-parameters-and-red-blood-cell-morphological-abnormality-of-glucose-6-phosphate-dehydrogenase-deficiency-co-inherited-with-thalassemia
#1
Jutharat Pengon, Saovaros Svasti, Sumalee Kamchonwongpaisan, Phantip Vattanaviboon
OBJECTIVE/BACKGROUND: Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and thalassemia are genetically independent hemolytic disorders. Co-inheritance of both disorders may affect red blood cell pathology to a greater extent than normally seen in either disorder alone. This study determines the prevalence and evaluates hematological changes of G-6-PD deficiency and thalassemia co-inheritance. METHODS: G-6-PD deficiency was screened from 200 male thalassemia blood samples using a fluorescent spot test...
June 15, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/28640657/retinal-findings-on-oct-in-systemic-conditions
#2
Preeti Patil Chhablani, Vikas Ambiya, Akshay G Nair, Sailaja Bondalapati, Jay Chhablani
PURPOSE: Imaging technology has advanced by leaps and bounds in the recent past and has resulted in a much greater understanding of ocular diseases. The aim of this review article is to summarize optical coherence tomography (OCT) findings of various systemic conditions. METHOD: A systematic literature search of the Medline/PubMed database was performed. English articles up to April 2015 were included. Terms used for search included: Alzheimer's Disease; Multiple Sclerosis; Parkinson's Disease; Behçet's Disease; Schizophrenia; Migraine; Obstructive Sleep Apnea Syndrome; Neurofibromatosis; Sickle Cell Disease; Renal diseases; Lupus Retinopathy; Valsalva Retinopathy; Whiplash Retinopathy; Shaken-Baby Syndrome; Choroidal metastases; Intracranial Hypertension; Drug toxicity; Deferoxamine; Sildenafil; Tamoxifen; Hydroxychloroquine; Chloroquine; Ethambutol; Lead; Sickle Cell Disease; and Thalassemia along with OCT...
June 22, 2017: Seminars in Ophthalmology
https://www.readbyqxmd.com/read/28635337/population-based-genetic-study-of-%C3%AE-thalassemia-mutations-in-mardan-division-khyber-pakhtunkhwa-province-pakistan
#3
Raj Muhammad, Muhammad Shakeel, Shoaib U Rehman, Muhammad A Lodhi
β-Thalassemia (β-thal) is the most prevalent hereditary blood disorder in Pakistan with a carrier rate of 5.0-8.0%. The homozygous affected children require frequent blood transfusions for their survival. This autosomal recessive disease can only be prevented through awareness programs, carrier screening, mutation detection, genetic counseling and prenatal diagnosis (PND). The present study aimed to determine the prevalence of various mutations causing β-thal and also to detect carriers of these mutations in families living in the Mardan Division, Khyber Pakhtunkhwa (KP) Province, Pakistan...
June 21, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28634546/low-hemoglobin-among-pregnant-women-in-midwives-practice-of-primary-health-care-jatinangor-indonesia-iron-deficiency-anemia-or-%C3%AE-thalassemia-trait
#4
Ari Indra Susanti, Edhyana Sahiratmadja, Gatot Winarno, Adhi Kristianto Sugianli, Herman Susanto, Ramdan Panigoro
Low hemoglobin (Hb) or anemia is common among pregnant women in developing countries which may cause adverse pregnancy outcomes and maternal deaths. Our study aimed to assess Hb level measured by midwives in primary health care facility at rural area of Jatinangor, Indonesia, and to explore whether the anemia was due to iron deficiency (IDA) or β-thalassemia trait (β-TT). Pregnant women (n = 105) had finger prick test for Hb level during a regular antenatal care examination from October to November 2016. Hb level by finger prick test was compared with venous blood, measured by complete blood count (CBC)...
2017: Anemia
https://www.readbyqxmd.com/read/28633041/study-of-platelet-activation-hypercoagulable-state-and-the-association-with-pulmonary-hypertension-in-children-with-%C3%AE-thalassemia
#5
REVIEW
Mahmoud Alhosiny Fayed, Hesham El-Sayed Abdel-Hady, Mona Mohammed Hafez, Osama Saad Salama, Youssef Abdelhalim Al-Tonbary
BACKGROUND: The increased survival rate of thalassemic patients has led to unmasking of management related complications which were infrequently encountered. OBJECTIVE: Study the increased coagulation and platelet activation in children with β-thalassemia, to analyze the factors that lead to such hypercoagulable state and to study pulmonary hypertension (PH) in conjunction with platelet activation and hypercoagulable state in children with β-thalassemia. METHODS: 36 Egyptian children with β-thalassemia with a mean age of 9...
June 15, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/28629515/mutual-cross-talk-between-iron-homeostasis-and-erythropoiesis
#6
Ilona Rybinska, Gaetano Cairo
Iron is necessary for physiological processes essential for the activity of all cells, but the erythropoietic compartment is a privileged iron consumer. In fact, a considerable amount of iron is daily required for hemoglobin synthesis and erythroid cell proliferation. Therefore, a tight link exists between iron metabolism and erythropoiesis. The iron needed for hemoglobin synthesis is mainly ensured by inhibiting hepcidin expression, thereby increasing both ferroportin-mediated iron export from the duodenal absorptive cells and iron release from the reticuloendothelial cells that process old and/or damaged red blood cells...
2017: Vitamins and Hormones
https://www.readbyqxmd.com/read/28628416/case-243-extramedullary-hematopoiesis-in-an-adrenal-myelolipoma
#7
James Tanner, Shalini Malhotra, Hesham El-Daly, Edmund M Godfrey
History A 30-year-old man presented to the emergency department with epigastric pain. He was vomiting and in distress, and he had a history of thalassemia. Physical examination findings were unremarkable. Pertinent blood results were a hemoglobin level of 10.5 g/dL (6.52 mmol/L) (normal range, 13.5-18.0 g/dL [8.38-11.17 mmol/L]) and a bilirubin level of 62 µmol/L (normal range, 3-17 µmol/L). The remaining hematologic and biochemical results were normal. Aortic dissection was suspected clinically, so the patient was referred for imaging...
July 2017: Radiology
https://www.readbyqxmd.com/read/28627425/a-multicenter-retrospective-analysis-stressing-importance-of-long-term-follow-up-after-hematopoietic-cell-transplantation-for-%C3%AE-thalassemia
#8
S Chaudhury, M Ayas, C Rosen, M Ma, M Viqaruddin, S Parikh, S Kharbanda, K Y Chiang, A Haight, M Bhatia, Gmt Guilcher, A Thompson, S Shenoy
Allogeneic hematopoietic cell transplantation (HCT) is curative in patients with β-thalassemia major. However, the majority of reports on HCT outcomes lack long-term follow-up data with the exception of single center reports. An international multicenter retrospective data collection and analysis was conducted in 176 β-Thalassemia patients who were 1 year or beyond after first HCT to evaluate follow up methods and outcomes at 7 centers- Median age at HCT was 5.5 years (range, 0.6- 18.5) and median follow-up was 7 years (range, 1-20)...
June 13, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28624809/genome-wide-analysis-of-aberrantly-expressed-lncrnas-and-mirnas-with-associated-co-expression-and-cerna-networks-in-%C3%AE-thalassemia-and-hereditary-persistence-of-fetal-hemoglobin
#9
Ketong Lai, Siyuan Jia, Shanjuan Yu, Jianming Luo, Yunyan He
The implications of lncRNAs regarding fetal hemoglobin (HbF) induction in hemoglobin disorders remain poorly understood. In this study, microarray analysis was performed to profile lncRNAs, miRNAs and mRNAs in individuals with hereditary persistence of fetal hemoglobin (HPFH), β-thalassemia carriers with high HbF levels and healthy controls. The results show aberrant expression of 862 lncRNAs, 568 mRNAs and 63 miRNAs in the high-HbF group compared with the control group. Altered NR_001589, NR_120526, T315543, miR-486-3p, miR-19b-1-5p and miR-20a-3p expression was confirmed by quantitative reverse transcription-polymerase chain reaction, and Spearman correlation coefficients revealed significant positive correlations with HbF...
May 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28621205/neurocognitive-dysfunction-in-children-with-%C3%AE-thalassemia-major-psychometric-neurophysiologic-and-radiologic-evaluation
#10
M S Elalfy, R H Aly, H Azzam, K Aboelftouh, R H Shatla, M Tarif, M Abdatty, R M Elsayed
OBJECTIVE: To evaluate the impact of iron chelating drugs and serum ferritin on the neurocognitive functions of patients with β thalassemia major (β-TM), using psychometric, neurophysiologic and radiologic tests. METHODS: Eighty children with β-TM were enrolled into the study and were compared to 40 healthy controls. All participants were evaluated by measuring serum ferritin, neurocognitive assessment by Benton Visual Retention Test, Wechsler Intelligence Scale for Children, Wisconsin Card Sort Test, P300 and magnetic resonance spectroscopy (MRS)...
June 16, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28618753/development-of-a-new-real-time-pcr-screening-kit-for-hbs-and-common-beta-thalassemia-mutations-observed-in-turkey
#11
Derya Kan Karaer, Mehmet Ali Ergün, Hatice Ilgın Ruhi, Jale Öztürk, Halil Kara, Deniz Reisoğlu Çakmak, Talihanur Aydoğmuş, Emriye Ferda Perçin
BACKGROUND/AIM: IVSI-110 (G>A), IVSI-6 (T>C), IVSII-1 (G>A), IVSII-745 (C>G), IVSI-1 (G>A), and HbS are mutations covering 76% of all the β-globin mutations in the Turkish population. In this study, our aim is to develop a reliable, fast, real-time kit for these mutations using the TaqMan probe method. MATERIALS AND METHODS: This study included 100 individuals with beta-thalassemia or sickle cell anemia who had unknown mutations, and 21 controls with known mutations...
June 12, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/28617058/the-assessment-of-skin-color-and-iron-levels-in-pediatric-patients-with-%C3%AE-thalassemia-major-using-a-visual-skin-color-chart
#12
Ibrahim H Bucak, Habip Almis, Samet Benli, Mehmet Turgut
Patients with β-thalassemia major (β-TM), a disease that emerges due to disorder of hemoglobin (Hb) synthesis, require life-long erythrocyte transfusion. The purpose of this study was to evaluate skin color and iron levels of patients with β-TM using a visual skin color chart. Each patient's skin color was matched on a skin color chart under a fluorescent lamp by the same physician on each occasion. Iron, iron binding capacity, ferritin and complete blood count (CBC) were studied for each patient enrolled...
June 15, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28615064/anti-toxoplasma-gondii-antibodies-in-patients-with-beta-hemoglobinopathies-the-first-report-in-the-americas
#13
Marina Neves Ferreira, Claudia Regina Bonini-Domingos, Isabeth Fonseca Estevão, Clarice Lopes de Castro Lobo, Gisele Cristina Souza Carrocini, Aparecida Perpétuo Silveira-Carvalho, Octávio Ricci, Luiz Carlos de Mattos, Cinara Cássia Brandão de Mattos
BACKGROUND: In 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. METHODS: A 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)...
June 14, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28612449/changes-in-urine-albumin-to-creatinine-ratio-with-the-initiation-of-hydroxyurea-therapy-among-children-and-adolescents-with-sickle-cell-disease
#14
Sarah Tehseen, Clinton H Joiner, Peter A Lane, Marianne E Yee
BACKGROUND: Renal damage is a progressive complication of sickle cell disease (SCD) that begins in childhood and may progress to renal failure and early mortality in 12% of adults with hemoglobin SS (HbSS) SCD. Early sickle nephropathy is characterized by hyperfiltration and microalbuminuria; therefore, urine albumin to creatinine ratio (ACR) is an effective screening tool for its detection. PROCEDURE: This study investigated the effect of hydroxyurea (HU) therapy on urine ACR levels among children with SCD...
June 14, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28611934/etiology-and-perinatal-outcome-of-nonimmune-hydrops-fetalis-in-southern-china
#15
Sheng He, Linlin Wang, Pingshan Pan, Hongwei Wei, Dahua Meng, Juan Du, Xiaoxian Tian, Chenguang Zheng, Xiaoxia Qiu, Guoyang Luo
Objective  This study aims to analyze the etiology and perinatal outcome of nonimmune hydrops fetalis (NIHF) in Southern China. Methods  All cases with NIHF diagnosed antenatally from January 1, 2007 to December 31, 2014 were identified and analyzed. Results  Total 482 cases of NIHF were identified during the study period. The most common cause of NIHF was hemoglobin (Hb) Bart's disease (61.8%), followed by chromosomal abnormalities (13.5%), idiopathic etiology (13.1%), cardiac abnormalities (6.4%), and others (5...
April 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/28605653/left-ventricle-remodeling-in-patients-with-%C3%AE-thalassemia-major-an-emerging-differential-diagnosis-with-left-ventricle-noncompaction-disease
#16
Elisabetta Chiodi, Marianna Nardozza, Maria Rita Gamberini, Alessia Pepe, Massimo Lombardi, Giorgio Benea, Donato Mele
To differentiate left ventricle non-compaction (LVNC) from hypertrabeculated myocardium due to LV remodeling in β-thalassemia major (β-TM) patients, cardiac magnetic resonance (CMR) images of 38 β-TM patients and 10 LVNC patients were compared using 3 diagnostic criteria: ratio of diastolic segmental non-compacted to compacted myocardium (NC/C ratio) >2.5, percentage of non-compacted LV mass (NC-LVM%) >20% and >25% of global LV mass. Specificity of NC/C ratio of >2.5 was the lowest (58%) and of NC-LVM% of >25% the highest (93%)...
May 17, 2017: Clinical Imaging
https://www.readbyqxmd.com/read/28605432/molecular-diagnosis-of-thalassemias-and-hemoglobinopathies-an-aclps-critical-review
#17
Daniel E Sabath
Objectives: To describe the use of molecular diagnostic techniques for patients with hemoglobin disorders. Methods: A clinical scenario is presented in which molecular diagnosis is important for genetic counseling. Globin disorders, techniques for their diagnosis, and the role of molecular genetic testing in managing patients with these disorders are described in detail. Results: Hemoglobin disorders, including thalassemias and hemoglobinopathies, are among the commonest genetic diseases, and the clinical laboratory is essential for the diagnosis of patients with these abnormalities...
June 12, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28603845/three-novel-hbb-mutations-c-140c-g-90-c-g-c-237_256delggacaacctcaagggcacct-fs-cd-78-85-20%C3%A2-bp-and-c-315-2t-g-ivs2-2-t-g-update-of-the-mutational-spectrum-of-%C3%AE-thalassemia-in-mexican-mestizo-patients
#18
L C Rizo-de-la-Torre, B Ibarra, J Y Sánchez-López, M T Magaña-Torres, V M Rentería-López, F J Perea-Díaz
INTRODUCTION: Beta-thalassemia (β-thal) is frequent in Mexican patients with microcytosis and hypochromia. We report three novel mutations and analyze the actual mutational spectrum in Mexican population. METHODS: One hundred and forty-nine β-thal Mexican mestizo patients were studied (154 alleles). ARMS-PCR was performed to identify Cd39C>T, IVS1:1G>A, IVS1:110G>A, -28A>C, initiation codonA>G and IVS1:5G>A mutations, and gap-PCR for δβ-thal Spanish type...
June 12, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28603069/the-case-for-high-resolution-extended-6-loci-hla-typing-for-identifying-related-donors-in-the-indian-subcontinent
#19
Rajat Kumar Agarwal, Ankita Kumari, Amit Sedai, Lalith Parmar, Rakesh Dhanya, Lawrence Faulkner
Three-loci low- or intermediate-resolution HLA typing is generally considered adequate in the related blood and marrow transplantation (BMT) context. However, a single high-resolution (HR) mismatch may have a similar adverse impact on BMT outcome as a low resolution (LR) one. We sought to determine the frequency of mismatches which may go undetected when standard typing (LR or HR/3-loci) is employed as against HR/6-loci typing for related donors compatibility testing and assess its impact on relevant BMT outcomes...
June 8, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28602890/posterior-reversible-encephalopathy-syndrome-after-hematopoietic-cell-transplantation-in-children-with-hemoglobinopathies
#20
Javid Gaziev, Simone Marziali, Katia Paciaroni, Antonella Isgrò, Francesca Di Giuliano, Giorgia Rossi, Marco Marziali, Gioia De Angelis, Cecilia Alfieri, Michela Ribersani, Marco Andreani, Maria Giuseppina Palmieri, Fabio Placidi, Andrea Romigi, Francesca Izzi, Roberto Floris, Nicola Biagio Mercuri
Posterior reversible encephalopathy syndrome (PRES) is a serious adverse event associated with calcineurin inhibitors (CI) used for graft-versus-host disease (GVHD) prophylaxis. We compared the incidence of PRES in children with thalassemia (n=222, 1.4-17.8 years old) versus sickle cell disease (SCD; n=59, 2-17 years old) who underwent hematopoietic cell transplantation (HCT) from HLA-matched siblings or alternative donors and analyzed the risk factors for PRES. Overall, 31 children developed CI-related PRES (11%), including 30 patients with seizures and 1 patient without seizures...
June 5, 2017: Biology of Blood and Marrow Transplantation
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