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Ke Huang, Dun-Hua Zhou, Yang Li, Hong-Gui Xu, Li-Ping Que, Chun Chen, Hong-Man Xue, Hai-Xia Guo, Wen-Jun Weng, Shao-Liang Huang, Jian-Pei Fang
BACKGROUND: The objective of this study was to evaluate the feasibility of a modified conditioning regimen for the treatment of patients with β-thalassaemia major (TM), using unrelated donor peripheral blood stem cell transplantation (UD-PBSCT). METHODS: A modified conditioning regimen based on intravenous busulfan, cyclophosphamide, fludarabine, and antithymocyte globulin was performed in 50 consecutive childhood patients with β-TM and a median age of 4.6 years (range, 2-12 years)...
March 7, 2018: Pediatric Blood & Cancer
Shazia Moeen, Nazish Farooq, Romana Irshad, Muhammad Ashfaq, Umer Farooq, Muhammad Idris
BACKGROUND: Lifelong transfusions are life savers for thalassaemia patients but are associated with many complications. Alloimmunization is a major problem for blood banks. Antigens of foreign red blood cells induce the formation of antibodies in patients suffering from thalassaemia. The purpose of this study was to examine the frequency of red cell alloantibodies and to express the type of these antibodies in thalassaemia patients. METHODS: Patients that have received multiple transfusions were included in this study...
January 2018: Journal of Ayub Medical College, Abbottabad: JAMC
Alessia Pepe, Maria R Gamberini, Massimiliano Missere, Laura Pistoia, Maurizio Mangione, Liana Cuccia, Anna Spasiano, Silvia Maffei, Christian Cadeddu, Massimo Midiri, Caterina Borgna, Antonella Meloni
We assessed whether male gender was associated with a higher risk of cardiac iron accumulation and fibrosis, heart dysfunction and complications in a large, multicentre cohort of thalassaemia major (TM) patients, in order to optimize the timing in cardiac follow-up. We considered 1711 TM patients (899 females, 31·09 ± 9·08 years), enrolled in the Myocardial Iron Overload in Thalassaemia Network. Clinical/instrumental data are recorded from birth to the first Cardiovascular Magnetic Resonance Imaging scan...
March 2018: British Journal of Haematology
Qi An, Conghai Fan, Shumei Xu
β-thalassaemia is a potentially lethal hereditary anaemia, caused by reduced or absent expression of HBB polypeptide chains of adult haemoglobin (HbA: α2β2). Current curative treatments options are limited to few patients, while alternative, chronic palliative therapy consisting of frequent transfusions coupled with iron chelation therapy, are costly. The above treatments also affect quality of life of patients. A search was conducted in the electronic databases like medline, pubmed, etc. for screening studies reporting various aspects including gene therapy, prevention strategies, blood, transfusion and chelation therapy for the management of β-thalassaemia...
February 23, 2018: Minerva Pediatrica
M M Rahman, K Fatema, M M Hossain
Here we present a Bangladeshi family where out of four family members two (mother and son) inherited both haemoglobin (HbS) S and haemoglobin (HbE) E gene confirming the diagnosis of double heterozygous state for HbS and HbE, presented in the Armed Forces Institute of Pathology (AFIP), Dhaka Cantonment, Dhaka, Bangladesh on the month of July 2016. Among other two members, one (daughter) inherited HbS and other (father) HbE. Double heterozygous state for HbS and HbE is a rare condition in this subcontinent especially in Bangladesh...
January 2018: Mymensingh Medical Journal: MMJ
Maria Domenica Cappellini, John B Porter, Vip Viprakasit, Ali T Taher
Beta-thalassaemia causes defective haemoglobin synthesis leading to ineffective erythropoiesis, chronic haemolytic anaemia, and subsequent clinical complications. Blood transfusion and iron chelation allow long-term disease control, and haematopoietic stem cell transplantation offers a potential cure for some patients. Nonetheless, there are still many challenges in the management of beta-thalassaemia. The main treatment option for most patients is supportive care; furthermore, the long-term efficacy and safety of current therapeutic strategies are limited and adherence is suboptimal...
February 12, 2018: Blood Reviews
Tridip Chatterjee, Amit Chakravarty, Sudipa Chakravarty
The haematological and clinical response to hydroxyurea was estimated in HbE-beta, beta thalassaemia and sickle cell anaemia patients of Eastern India, with variable clinical severity and transfusion requirement to determine whether hydroxyurea can help these patients to maintain their steady haemoglobin level without blood transfusions. Three hundred patients (189 HbE-beta thalassaemia, 95 beta thalassaemia and 16 other haemoglobinopathies including sickle cell anaemia) were selected for hydroxyurea therapy and were followed up for 48-60 months...
February 17, 2018: Annals of Hematology
Mohamed A Yassin, Ashraf T Soliman, Vincenzo De Sanctis, Mohammad Aj Abdula, Lubna M Riaz, Firdous F Ghori, Anil Yousaf, Abdulqadir J Nashwan, Sandara Abusamaan, Abbas Moustafa, Samah Kohla, Dina S Soliman
Despite regular blood transfusion and iron chelation therapy, growth impairment and pubertal delay are commonly seen in children and adolescents with transfusion-dependent Beta thalassaemia major (BTM) and sickle cell disease (SCD). We evaluated growth parameters and endocrine disorders in relation to the liver iron concentration (LIC) assessed by the Ferriscan® method in a cohort of adults with SCD (n =40) and BTM (n = 52) receiving blood transfusions and iron chelation therapy since early childhood. Before transfusion, hemoglobin concentration had not been less than 9 g/dl in the past 12 years; subcutaneous daily desferrioxamine was administered for all of them since early childhood (2- 5 years of age)...
February 16, 2018: Acta Bio-medica: Atenei Parmensis
Vincenzo De Sanctis, Ashraf T Soliman, Mohamed A Yassin, Salvatore Di Maio, Shahina Daar, Heba Elsedfy, Nada Soliman, Christos Kattamis
Failure of pubertal growth, delay or absence of sexual development, infertility and sexual dysfunction due to hypogonadism and defective spermatogenesis are frequent and well recognized disturbances among male patients with transfusion dependent (TD) thalassaemia major (β-thal). These problems are attributed mainly to the damage caused by chronic anaemia and the deposition of excess iron in the pituitary gland and testicles. This is a short review of male pubertal disorders in patients with β-thal written by pediatric endocrinologists and haematologists with an interest and active involvement, in the diagnosis and management of these complications in this group of patients...
February 16, 2018: Acta Bio-medica: Atenei Parmensis
Xiaohong Li, Lin Liao, Xuelian Deng, Jian Huang, Zengfu Deng, Hongying Wei, Wuning Mo, Faquan Lin
A family of four from the Guangxi Zhuang Autonomous Region of China, including a child with α-thalassaemia and hereditary spherocytosis (HS), underwent laboratory identification, and genetic analysis. After harvesting peripheral blood samples from the child patient and his family members, GAP-polymerase chain reaction (PCR) and reverse dot-blot tests were used to identify thalassaemia genotypes. After amplifying exons and the adjacent introns of solute carrier family 4 member 1 (Diego blood group) (SLC4A1), ankyrin 1, spectrin α erythrocytic 1, spectrin β erythrocytic and erythrocyte membrane protein band 4...
February 2018: Experimental and Therapeutic Medicine
G Kakourou, S Kahraman, G C Ekmekci, H A Tac, G Kourlaba, E Kourkouni, A Cervero Sanz, J Martin, H Malmgren, C Giménez, V Gold, F Carvalho, C Billi, J F C Chow, X Vendrell, G Kokkali, J Liss, J Steffann, J Traeger-Synodinos
STUDY QUESTION: Has PGD-HLA been successful relative to diagnostic and clinical efficacy? SUMMARY ANSWER: The diagnostic efficacy of PGD-HLA protocols was found lower in this study in comparison to published PGD-HLA protocols and to that reported for general PGD by ESHRE (78.5 vs 94.1% and vs 92.6%, respectively), while the clinical efficacy has proven very difficult to assess due to inadequate follow-up of both the ART/PGD and HSCT procedure outcomes. WHAT IS KNOWN ALREADY: The first clinical cases for PGD-HLA were reported in 2001...
February 8, 2018: Human Reproduction
Rexan Rodrigo, Angela Allen, Aresha Manampreri, Luxman Perera, Christopher A Fisher, Stephen Allen, David J Weatherall, Anuja Premawardhena
Iron deficiency complicates the use of red cell indices to screen for carriers of haemoglobin variants in many populations. In a cross sectional survey of 7526 secondary school students from 25 districts of Sri Lanka, 1963 (26.0%) students had low red cell indices. Iron deficiency, identified by low serum ferritin, was the major identifiable cause occurring in 550/1806 (30.5%) students. Low red cell indices occurred in iron-replete students with alpha-thalassaemia including those with single alpha-globin gene deletions...
February 2, 2018: Blood Cells, Molecules & Diseases
E Vlachodimitropoulou, A Thomas, F Shah, A Kyei-Mensah
No abstract text is available yet for this article.
February 1, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
Seemab Hashim, Mohsin Sarwar, Armish Arsalan, Isma Awan, Sajida Naseem
OBJECTIVE: To get preliminary data regarding the prevention of thalassaemia major in future generations. METHODS: This Knowledge Attitude Practices study was conducted at Pakistan Institute of Medical Sciences, Islamabad, Pakistan, from January to June 2016, using non-probability purposive sampling. Parents of children undergoing transfusion were interviewed. Questionnaires were used to collect demographics and data about awareness, attitude and frequency of screening among the first degree relatives of a thalassaemia major patient...
January 2018: JPMA. the Journal of the Pakistan Medical Association
Paolo Ricchi, Antonella Meloni, Anna Spasiano, Silvia Costantini, Alessia Pepe, Patrizia Cinque, Aldo Filosa
This study analysed the impact of liver steatosis (LS) on the parameters of iron overload in 110 patients with non-transfusion dependent thalassaemia (NTDT). LS was diagnosed by ultrasound. Liver iron concentration (LIC) measurements were available for 64 patients who underwent a magnetic resonance imaging (MRI) scan. LS was frequent (35·5%) and was significantly more prevalent in males than in females (49·0% vs. 24·6%, P = 0·008). Patients with LS had significant higher levels of alanine aminotransferase (ALT), aspartate aminotransferase (AST), ALT/AST ratio and ferritin than those without, but LIC values were comparable...
January 24, 2018: British Journal of Haematology
Vincenzo De Sanctis, Ashraf T Soliman, Duran Canatan, Heba Elsedfy, Mehran Karimi, Shahina Daar, Hala Rimawi, Soteroula Christou, Nicos Skordis, Ploutarchos Tzoulis, Praveen Sobti, Shruti Kakkar, Yurdanur Kilinc, Doaa Khater, Saif A Alyaarubi, Valeriya Kaleva, Su Han Lum, Mohamed A Yassin, Forough Saki, Maha Obiedat, Salvatore Anastasi, Maria Concetta Galati, Giuseppe Raiola, Saveria Campisi, Nada Soliman, Mohamed Elshinawy, Soad Al Jaouni, Salvatore Di Maio, Yasser Wali, Ihab Zaki Elhakim, Christos Kattamis
Hypoparathyroidism (HPT) is a rare disease with leading symptoms of hypocalcemia, associated with high serum phosphorus levels and absent or inappropriately low levels of parathyroid hormone (PTH). In patients with thalassemias it is mainly attributed to transfusional iron overload, and suboptimal iron chelation therapy. The main objectives of this survey were to provide data on the prevalence, demographic and clinical features of HPT in thalassemia major (TM) and intermedia (TI) patients living in different countries, and to assess its impact in clinical medical practice...
January 16, 2018: Acta Bio-medica: Atenei Parmensis
Constantinos Christos Loucari, Petros Patsali, Thamar B van Dijk, Coralea Stephanou, Panayiota Papasavva, Maria Zanti, Ryo Kurita, Yukio Nakamura, Soteroulla Christou, Maria Sitarou, Sjaak Philipsen, Carsten Werner Lederer, Marina Kleanthous
The β-haemoglobinopathies sickle cell anaemia and β-thalassaemia are the focus of many gene-therapy studies. A key disease parameter is the abundance of globin chains, because it indicates the level of anaemia, likely toxicity of excess or aberrant globins, and therapeutic potential of induced or exogenous β-like globins. Reversed-phase high-performance liquid chromatography (HPLC) allows versatile and inexpensive globin quantification, but commonly applied protocols suffer either from long run times, high sample requirements or inability to separate murine from human β-globin chains...
January 12, 2018: Human Gene Therapy Methods
Mohammed Abdullah Al Qasem, Fayez Hanna, Usira S Vithanarachchi, Alhossain A Khalafallah
A Caucasian 24-year-old female patient suffers from two hereditary disorders: alpha-thalassaemia, which is prevalent in Asia and rare in Europe, and haemochromatosis, which is prevalent among northern Europe and rare in Asia. The clinical presentation and management of one of these diseases is controversial for the other. She presented 5 years ago with a clinical picture of refractory iron-deficiency anaemia secondary to menorrhagia. On treating her with the standard iron therapy, her anaemia persists although with adquate iron stores...
January 4, 2018: BMJ Case Reports
H S Amran, M A Aziz, E George, N Mahmud, T Y Lee, S Md Noor
Hb Tak is one of more than 200 high affinity haemoglobin variants reported worldwide. It results from the insertion of two nucleotides (AC) at the termination codon, between codon 146 and codon 147 of the beta-globin gene [Beta 147 (+AC)]. Polycythaemia is the main clinical feature although affected carriers are usually asymptomatic and do not require intervention. Several case studies in this region have reported the co-inheritance of Hb Tak with Hb E, delta beta and beta thalassaemia with one case of homozygous Hb Tak in a Thai boy...
December 2017: Malaysian Journal of Pathology
O V Swann, E M Harrison, D H Opi, E Nyatichi, A Macharia, S Uyoga, T N Williams, J A Rowe
Clustering of Complement Receptor 1 (CR1) in the erythrocyte membrane is important for immune-complex transfer and clearance. CR1 contains the Knops blood group antigens, including the antithetical pairs Swain-Langley 1 and 2 (Sl1 and Sl2) and McCoy a and b (McCa and McCb), whose functional effects are unknown. We tested the hypothesis that the Sl and McC polymorphisms might influence CR1 clustering on erythrocyte membranes. Blood samples from 125 healthy Kenyan children were analysed by immunofluorescence and confocal microscopy to determine CR1 cluster number and volume...
December 19, 2017: Scientific Reports
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