Clinical Application of Partial Splenic Embolization by Yong-Song Guan, Ying Hu

“…Common indications of PSE include hypersplenism with portal hypertension, hereditary spherocytosis, thalassemia, autoimmune hemolytic anemia, splenic trauma, idiopathic thrombocytopenic purpura, splenic hemangioma, and liver cancer. …”
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Iron Overload in Transfusion-Dependent Indonesian Thalassemic Patients by Pandji Irani Fianza, Anita Rahmawati, Sri Hudaya Widihastha, Shofura Afifah, Mohammad Ghozali, Andre Indrajaya, Dilli Marayuzan Akbar Pratama, Dimmy Prasetya, Teddy Arnold Sihite, Mas Rizky A. A. Syamsunarno, Djatnika Setiabudi, Suthat Fucharoen, Ramdan Panigoro

“…Thalassemia is a genetic disease caused by disruption of globin chain synthesis leading to severe anemia and thus regular blood transfusion is necessary. …”
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Varied Age of First Presentation of Sickle Cell Disease: Case Presentations and Review by Alexis Claeys, Susanne Van Steijn, Lydia Van Kesteren, Elizabet Damen, Machiel Van Den Akker

“…Many factors are responsible for the age at which sickle cell disease is diagnosed: doctor’s delay (unfamiliarity with the disease), patient’s delay (education and financial position of the parents, cultural factors), high- versus low-resource country (availability of newborn screening), fetal hemoglobin, reticulocyte count, and genetic modulators, such as SCD genotype, alpha-thalassemia, fetal hemoglobin concentration, and G6PD deficiency. …”
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Acute Sickle Hepatic Crisis after Liver Transplantation in a Patient with Hb SC Disease by J. H. Gillis, S. K. Satapathy, L. Parsa, P. B. Sylvestre, N. Dbouk

“…It occurs predominantly in patients with homozygous (Hb SS) sickle cell anemia and to a lesser degree in patients with Hb SC disease, sickle cell trait, and Hb S beta thalassemia. Patients commonly present with jaundice, right upper quadrant pain, nausea, low-grade fever, tender hepatomegaly, and mild to moderate elevations in serum AST, ALT, and bilirubin. …”
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Delayed Diagnosis of Crigler-Najjar Disease: A Case Report of a 17-Year-Old Man with Progressive Jaundice by Pedram Beigvand, Niloofar Moradi, Sepehr Ramezani, Faezeh Firuzpour

“…Here is a case report of a 17-year-old male patient with minor thalassemia and G6PD deficiency who was referred due to worsening jaundice. …”
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Pyruvate Kinase Deficiency Causing Priapism by Vinay Hanyalu Shankar, Bharadwaj Adithya-Sateesh, Nicole Gousy, Girma Ayele, Freyr Petursson, Rediet Atalay, Miriam Michael

“…This differs greatly as priapism has been frequently reported in patients with other chronic hemoglobinopathies such as sickle cell disease, thalassemia, and G6PD with and without splenectomy. …”
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Usability test of the “Denia-IS” mobile application for sustainability high-risk pregnancy early detection in rural areas by Dwi Anggraeni Mekar, Triyanto Endang, Iskandar Asep, Fatoni Amin, Niyomdecha Najwa

“…The exclusion criteria in this study were a history of chronic hypertension, chronic bleeding, thalassemia, and suffering from malaria. For usability evaluation, 120 respondents were recruited from the outpatient clinic. …”
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Nutritional Evaluation of Pediatric Patients with Sickle Cell Disease Treated with Hydroxyurea by Belkis Lázara Rodríguez Jorge, Lucía Morejón Díaz, Yoandra León Rayas, María Santa Cruz

“…<br /><strong>Results:</strong> 15 patients were studied, there was a predominance of females (60 %) and adolescents represented 80 % of the patients in the study. 10 patients (66.7 %) presented the homozygous form; the Sβ thalassemia and SC variant were represented with 2 and 3 patients, respectively. …”
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Cardiovascular Characterization of Children and Adolescents with Sickle Cell Anemia by Nancy González Vales, Ximena Laura Graña, Lucía Díaz Morejón, Tamara Sánchez Estrada, Belkis Rodríguez Jorge, Ifraín Machín Caride

“…The correlation between baseline hemoglobin and nutritional status showed a prevalence of 66.7 % for eutrophic children, with SB thalassemia predominating with 80 %. 57 % presented cardiovascular repercussion mainly the group of 7 to 10 years with 63.6 %.…”
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Overexpression of MiR-183/96/182 Triggers Retina-Like Fate in Human Bone Marrow-Derived Mesenchymal Stem Cells (hBMSCs) in Culture by Mohammad-Reza Mahmoudian-Sani, Fatemeh Forouzanfar, Samira Asgharzade, Nilufar Ghorbani

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Fetal medicine and current practice of prenatal screening by Akshatha Prabhu

“…Apart from aneuploidies, prenatal screening for non-structural disorders, such as Beta thalassemia (both parents carriers) or investigating any other genetic disorder can also be offered. …”
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Prevalence and clinical profile of hepatitis C virus infections in multitransfused thalassemic patients in the capital twin cities of Pakistan by Z. Z. Piracha, U. Saeed, R. Uppal, M. R. Uppal, A. Ahmad Khan, M. Abdullah, K. Mari, A. Basra, S. S. Gilani, M. N. Tariq, D. U. Ozsahin, B. Uzun, I. Ozsahin

“…Patients with beta thalassemia, who rely on lifelong blood transfusions, are particularly vulnerable to HCV infections. …”
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Frequency of Red Blood Cell Alloimmunization in Patients with Sickle Cell Disease in Palestine by Fekri Samarah, Mahmoud A. Srour, Dirgham Yaseen, Kamal Dumaidi

“…Of the SCD patients, 62 (53.4%) patients were HbSS and 54 (46.6%) patients were sickle β-thalassemia (S/β-thal). There were 53 (45.7%) females and 63 (54.3%) males. …”
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ATRX loss inhibits DDR to strengthen radio-sensitization in p53-deficent HCT116 cells by Lijing Qin, Geng Tang, Ruirui Gui, Yanming Yang, Li Wang, Weiqiang Xu, Hongyuan Tian, Lei Yu, Xiangshan Yang, Zhicheng Wang

“…Abstract Identifying novel targets for molecular radiosensitization is critical for improving the efficacy of colorectal cancer (CRC) radiotherapy. Alpha-thalassemia/mental retardation X-linked (ATRX), a member of the SWI/SNF-like chromatin remodeling protein family, functions in the maintenance of genomic integrity and the regulation of apoptosis and senescence. …”
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Association of Xmn I Polymorphism and Hemoglobin E Haplotypes on Postnatal Gamma Globin Gene Expression in Homozygous Hemoglobin E by Supachai Ekwattanakit, Yuwarat Monteerarat, Suchada Riolueang, Kalaya Tachavanich, Vip Viprakasit

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Genetic screening strategy for children with hereditary spherocytosis in Jiangxi Province of China by Chongjun Wu, Chongjun Wu, Zhongjin Xu, Zhongjin Xu, Qian Wan, Qian Wan, Feng Chen, Feng Chen, Yao Ye, Yao Ye, Hong Wang, Hong Wang

“…Upon initial diagnosis, the clinical features of HS were not significantly distinct compared to other forms of anemia.ConclusionIn Jiangxi, China, our strategy of genetic screening for these children is feasible after excluding the common causes of anemia, such as nutritional anemia, G-6-PD deficiency, thalassemia, autoimmune hemolytic anemia, and myelopoietic abnormalities in children. …”
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A liquid chromatography-high-resolution mass spectrometry method for separation and identification of hemoglobin variant subunits with mass shifts less than 1 Da by Ainslie Chen, Ryan M. Aquino, Hector A. Vidal, Carolyn V. Wong, Ruben Y. Luo

“…Results: Seven heterozygous Hb variant samples (Hb C with α-thalassemia trait, Hb E, Hb D-Punjab, Hb G-Accra, Hb G-Siriraj, Hb Tarrant, and Hb G-Waimanalo) were selected to demonstrate the LC separation of Hb variant and normal subunits with mass shifts of less than 1 Da. …”
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[18F]FDG PET-Based Radiomics and Machine Learning for the Assessment of Gliomas and Glioblastomas: A Systematic Review by Francesco Dondi, Roberto Gatta, Maria Gazzilli, Pietro Bellini, Gian Luca Viganò, Cristina Ferrari, Antonio Rosario Pisani, Giuseppe Rubini, Francesco Bertagna

“…Signatures, including radiomics analysis and ML, generally demonstrated a possible diagnostic value to assess different characteristics of gliomas and GBMs, such as the methylation status of the O6-methylguanine-DNA methyltransferase (MGMT) promoter, the isocitrate dehydrogenase (IDH) genotype, alpha thalassemia/mental retardation X-linked (ATRX) mutation status, proliferative activity, differential diagnosis with solitary brain metastases or primary central nervous system lymphoma, and prognosis of these patients. …”
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Prenatal genetic detection in foetus with gallbladder size anomalies: cohort study and systematic review of the literature by Yimo Zeng, Rong Hu, Jian Lu, Yiming Qi, Dan Chen, Chaoxiang Yang, Jing Wu

“…Pathogenic/likely pathogenic copy number variations (CNVs) were found in nine foetuses, and α0-thalassemia in five foetuses. Additionally, three pathogenic single-nucleotide variants (SNVs) were detected through WES. …”
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Iron Deficiency and Iron Deficiency Anemia Are Common Epidemiological Conditions in Saudi Arabia: Report of the National Epidemiological Survey by Tarek Owaidah, Nouf Al-Numair, Ayman Al-Suliman, Mohammed Zolaly, Rana Hasanato, Faisal Al Zahrani, Mohameed Albalawi, Layla Bashawri, Khawar Siddiqui, Faisal Alalaf, Abdulkareem Almomen, Muhammad Raihan Sajid

“…Blood analysis confirmed the prevalence of ID and IDA in 28.6% and 10.7% of the participants, respectively; those with ID and IDA were mostly females (88.5% and 94%, resp.). Thalassemia trait and sickle cell trait were detected in 1.3% and 7% of participants, respectively. …”
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