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thalassemia and hemoglobinopathies

Suparak Para, Punchalee Mungkalasut, Makamas Chanda, Issarang Nuchprayoon, Srivicha Krudsood, Chalisa Louicharoen Cheepsunthorn
Background: The protective effect of α-thalassemia, a common hematological disorder in Southeast Asia, against Plasmodium falciparum malaria has been well established. However, there is much less understanding of the effect of α-thalassemia against P. vivax . Here, we aimed to investigate the proportion of α-thalassemia including the impact of α-thalassemia and HbE on the parasitemia of P. vivax in Southeast Asian malaria patients in Thailand. Methods: A total of 210 malaria patients, admitted to the Hospital for Tropical Diseases, Thailand during 2011-2012, consisting of 159 Myanmeses, 13 Karens, 26 Thais, 3 Mons, 3 Laotians, and 6 Cambodians were recruited...
2018: Mediterranean Journal of Hematology and Infectious Diseases
Chiara Antoniani, Vasco Meneghini, Annalisa Lattanzi, Tristan Felix, Oriana Romano, Elisa Magrin, Leslie Weber, Giulia Pavani, Sara El Hoss, Ryo Kurita, Yukio Nakamura, Thomas J Cradick, Ante S Lundberg, Matthew Porteus, Mario Amendola, Wassim El Nemer, Marina Cavazzana, Fulvio Mavilio, Annarita Miccio
Naturally occurring, large deletions in the β-globin locus result in hereditary persistence of fetal hemoglobin, a condition that mitigates the clinical severity of sickle-cell disease (SCD) and β-thalassemia. We designed a CRISPR/Cas9 strategy to disrupt a 13.6-kb genomic region encompassing the δ- and β-globin genes and a putative γ-δ intergenic fetal hemoglobin (HbF) silencer. Disruption of just the putative HbF silencer results in a mild increase in γ-globin expression, whereas deletion or inversion of a 13...
March 8, 2018: Blood
Attawut Chaibunruang, Kritsada Singha, Hataichanok Srivorakun, Goonnapa Fucharoen, Supan Fucharoen
Hb New York or Hb Kaohsiung [β113(G15)Val→Glu (GTG>GAG), HBB: c.341T>A] has been considered a rare β hemoglobin (Hb) variant found originally in an Iranian woman and later in diverse populations but its genetic origin has not been elucidated. Here we report molecular and hematological descriptions of this variant found in the Thai population. Among 5643 subjects referred for hemoglobinopathy investigation during January 2015 to September 2017, 183 (3.2%) were found to carry several Hb variants, including β chain variants (n = 135, 2...
February 21, 2018: Hemoglobin
Amaliris Guerra, Khaled M Musallam, Ali T Taher, Stefano Rivella
At present, the only definitive cure for β-thalassemia is a bone marrow transplant (BMT); however, HLA-blood-matched donors are scarcely available. Current therapies undergoing clinical investigation with most potential for therapeutic benefit are the β-globin gene transfer of patient-specific hematopoietic stem cells followed by autologous BMT. Other emerging therapies deliver exogenous regulators of several key modulators of erythropoiesis or iron homeostasis. This review focuses on current approaches for the treatment of hemoglobinopathies caused by disruptions of β-globin...
April 2018: Hematology/oncology Clinics of North America
Katie T Carlberg, Sylvia T Singer, Elliott P Vichinsky
As more women with transfusion-dependent thalassemia are seeking pregnancy, ensuring the best outcomes for both the mother and baby requires concerted, collaborative efforts between practitioners and the family. Proactive counseling, early fertility evaluation, recent developments in reproductive technology, and optimal management of iron overload, have resulted in more successful pregnancies and the birth of healthy newborns. With advances in technology for prenatal screening and increased awareness to perform screening for hemoglobinopathies, healthy pregnancy outcomes have become the expectation...
April 2018: Hematology/oncology Clinics of North America
Vip Viprakasit, Supachai Ekwattanakit
At present, thalassemia diseases are classified into transfusion-dependent thalassemia and non-transfusion-dependent thalassemia. This classification is based on the clinical severity of patients determining whether they do require regular blood transfusions to survive (transfusion-dependent thalassemia) or not (non-transfusion-dependent thalassemia). In addition to the previous terminology of "thalassemia major" or "thalassemia intermedia," this classification has embraced all other forms of thalassemia syndromes such as α-thalassemia, hemoglobin E/β-thalassemia and combined α- and β-thalassemias...
April 2018: Hematology/oncology Clinics of North America
Mohammad Hamid, Sanaz Ershadi Oskouei, Gholamreza Shariati, Esmaeil Babaei, Hamid Galehdari, Alihossein Saberi, Alireza Sedaghat
BACKGROUND: Any mutation in the Krüppel-like factor 1 (KLF1) gene may interfere with its proper related function in the erythropoiesis process and lead to alterations in proper activation of its downstream protein through globin switching, which results in an increase in fetal hemoglobin (HbF). This study aimed to investigate whether KLF1 mutation can associate with high level of HbF in individuals with increased fetal hemoglobin referred for screening of hemoglobinopathies in south of Iran...
February 7, 2018: Journal of Pediatric Hematology/oncology
Dipti Upadhye, Rajat S Das, Jayanta Ray, Shukdeb Acharjee, Kanjaksha Ghosh, Roshan B Colah, Malay B Mukherjee
Hemoglobinopathies are a group of inherited single gene disorders. There are reports on hemoglobin (Hb) variants identified in the tribal and non-tribal populations of Tripura State in northeastern India. This study aimed to determine the spectrum of hemoglobinopathies and enzymopathies by newborn screening in Tripura State and assess the extent of neonatal jaundice. A total of 2400 cord blood samples were collected and analyzed by high performance liquid chromatography (HPLC). Further confirmation of any abnormal HPLC was done by DNA analysis...
February 8, 2018: Hemoglobin
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
Siriyakorn Chansai, Supan Fucharoen, Goonnapa Fucharoen, Arunee Jetsrisuparb, Worawan Chumpia
BACKGROUND: Thalassemia is a group of hereditary hemoglobinopathies caused by decreased or absent synthesis of α and/or β globin chains. Studies have shown that hypercoagulability and thrombosis are common clinical symptoms in β-thalassemia, especially β-thalassemia intermedia, but little is known about in α-thalassemia. This study aims to examine phosphatidylserine (PS) levels, platelet activation, and coagulation markers in splenectomized (S) and nonsplenectomy (NS) patients with hemoglobin (Hb) H disease...
January 18, 2018: Acta Haematologica
Arwa Z Al-Riyami, Ayman Al-Muqbali, Saif Al-Sudiri, Sathiya Murthi Panchatcharam, Mathew Zacharia, Sabah Al-Mahrooqi, Saif Al-Hosni, Ali Al-Marhoobi, Shahina Daar
BACKGROUND: β-Thalassemia is a common hemoglobinopathy in the Arabian Peninsula. Red blood cell (RBC) transfusion is a cornerstone for its management, but can create significant challenges including RBC alloimmunization. Herein, we examine alloimmunization risk factors in Omani patients with transfusion-dependent β-thalassemia. Existing literature is summarized. STUDY DESIGN AND METHODS: A retrospective review of all patients attending our center over 25 years was performed...
February 4, 2018: Transfusion
Sitthichai Panyasai, Supachai Sakkhachornphop, Sakorn Pornprasert
A misdiagnosis of β-thalassemia carrier in samples with Hb Tak and HbD-Punjab, the β-variants, can be a cause of inappropriate genetic counseling thus having a new case of β-thalassemia major. A capillary electrophoresis (CE) is very efficient in separating and quantifying HbA2. In this study, HbA2 levels of samples which were doubted for compound heterozygous Hb Tak/β-thalassemia or heterozygous HbD-Punjab/β-thalassemia were measured and compared between CE and high performance liquid chromatography (HPLC)...
January 2018: Indian Journal of Hematology & Blood Transfusion
Prashant Sharma
Disorders of red cells and erythropoiesis encompass a vast array of inherited and acquired conditions, several of which are important not just medically but are also concern public health and policy making. Research in India in this area has been plentiful and has, in the past, focused on the laboratory diagnosis and clinical management of these disorders as well as their basic underlying pathogenesis. In the last 2 years too, papers presented at the annual national conferences of the Indian Society of Haematology and Blood Transfusion, ISHBT (Haematocon 2016 and 2017) presented a snapshot of the contemporary research activities that are ongoing in various academic and other centres...
January 2018: Indian Journal of Hematology & Blood Transfusion
Sri Riyati Sugiarto, Brioni R Moore, Julie Makani, Timothy M E Davis
Artemisinin derivatives are widely used antimalarial drugs. There is some evidence from in vitro, animal and clinical studies that hemoglobinopathies may alter their disposition and antimalarial activity. This review assesses relevant data in α-thalassemia, sickle cell disease (SCD), β-thalassemia and hemoglobin E. There is no convincing evidence that the disposition of artemisinin drugs is affected by hemoglobinopathies. Although in vitro studies indicate that Plasmodium falciparum cultured in thalassemic erythrocytes is relatively resistant to the artemisinin derivatives, mean 50% inhibitory concentrations (IC50s) are much lower than in vivo plasma concentrations after recommended treatment doses...
February 10, 2018: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
Nikoletta Psatha, Penelope-Georgia Papayanni, Evangelia Yannaki
Hemoglobinopathies, including severe β-thalassemia and sickle cell disease, represent the most common monogenic disorders worldwide. Allogeneic hematopoietic stem cell transplantation (allo-HCT) is the only approved curative option for these syndromes, albeit limited to patients having a suitable donor. Gene therapy, by making use of the patient's own hematopoietic stem cells to introduce a normal copy of the β-globin gene by viral vectors, bridged the gap between the need for cure of patients with hemoglobinopathies and the lack of a donor, without incurring the immunological risks of allo-HSCT...
2017: Current Gene Therapy
Upasana Joneja, Gene Gulati, Alina Dulau Florea, Jerald Gong
Background: Microcytic erythrocytosis is an underrecognized and underevaluated complete blood count (CBC) finding. The literature pertaining to the determination of its etiology specifically by hemoglobin variant analysis is limited. Methods: We performed hemoglobin variant analysis by high performance liquid chromatography on 137 patients who revealed microcytic erythrocytosis on CBC, and reviewed the results for the diagnosis of hemoglobin-associated disorders...
January 13, 2018: Laboratory Medicine
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
Monzr Al Malki, Richard Jones, Qing Ma, Dean Lee, Yair Reisner, Jeffrey S Miller, Peter Lang, Suradej Hongeng, Parameswaran Hari, Samuel Strober, Jianhua Yu, Richard Maziarz, Domenico Mavilio, Denis-Claude Roy, Chiara Bonini, Richard E Champlin, Ephraim J Fuchs, Stefan O Ciurea
The resurgence of haploidentical stem cell transplantation (HaploSCT) over the last decade is one of the most important advances in the field of hematopoietic stem cell transplantation (HSCT). The modified platforms of T cell depletion either ex vivo (CD34+ selection, 'mega-dose' of purified CD34+ cells, or selective depletion of T-cells) or newer platforms of in vivo depletion of T cells, with either post-transplant high-dose cyclophosphamide (PTCy) or intensified immune suppression, have contributed to better outcomes, with survival that is similar to HLA-match donor transplantation...
January 12, 2018: Biology of Blood and Marrow Transplantation
Maria Rosa Lidonnici, Giuliana Ferrari
Gene therapy for hemoglobinopathies is currently based on transplantation of autologous hematopoietic stem cells genetically modified with an integrating lentiviral vector expressing a globin gene under the control of globin transcriptional regulatory elements. Studies and safety works demonstrated the potential therapeutic efficacy and safety of this approach, providing the rationale for clinical translation. The outcomes of early clinical trials, although showing promising results, have highlighted the current limitations to a more general application...
January 3, 2018: Blood Cells, Molecules & Diseases
Karen Gabriela Scheps, Marcia Anahí Hasenahuer, Gustavo Parisi, Héctor M Targovnik, Eliana García, Ernesto Samuel Veber, Renée Crisp, Graciela Elena, Viviana Varela, María Silvina Fornasari
Hemoglobinopathies are the most common autosomal recessive disorders and are mostly inherited in a recessive manner. However, certain mutations can affect the globin chain stability, leading to dominant forms of thalassemia. The aim of this work was the molecular and structural characterization of two heterozygous in-frame deletions, leading to β-globin variants in pediatric patients in Argentina. The HBB gene of the probands and their parents was sequenced, and other markers of globin chain imbalance were analyzed...
January 10, 2018: European Journal of Haematology
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