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Am J Med Genet A 2021 May 4. Epub 2021 May 4.

Department of Child Neurology, Turku University, Turku University Central Hospital, Turku, Finland.

We have followed the clinical course of a 45-year-old man with a severe form of alpha-thalassemia X-linked intellectual disability syndrome for 40 years. The most challenging health issue is the combination of rumination, drooling, and vomiting. The patient achieved present adaptive and motor skills in his teenage years. Read More

Mol Ther 2021 Apr 30. Epub 2021 Apr 30.

Hudson Institute of Medical Research, Clayton, Melbourne 3168, Australia; Murdoch Children's Research Institute, Parkville, Melbourne 3052, Australia. Electronic address:

A primary challenge in lentiviral gene therapy of β-hemoglobinopathies is to maintain low vector copy numbers to avoid genotoxicity, while becoming reliably therapeutic for all genotypes. We have thus designed a high-titer lentiviral vector, LVβ-shα2, which allows for coordinated expression of the therapeutic β-globin gene and of an intron-embedded miR-30-based shRNA selectively targeting the α2-globin mRNA. Our approach was guided by the knowledge that moderate reduction of α-globin chain synthesis ameliorates disease severity in β-thalassemia. Read More

Am J Med Genet A 2021 May 3. Epub 2021 May 3.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.

In this review, we explore evidence that hypoxia in the developing human fetus can lead not only to the more commonly accepted disruptive-type defects, but also patterns of anomalies that suggest that hypoxia can exert a more classic teratogenic effect, using the brain as one example. We review neuropathology in the context of intrauterine hypoxia, particularly as it relates to carbon monoxide poisoning, in utero strokes, and homozygous alpha-thalassemia. In general, the associated brain injuries resemble those seen with other causes of hypoxic-ischemic injury. Read More

J Clin Lab Anal 2021 May 3:e23802. Epub 2021 May 3.

Department of Molecular Biology and Biotechnology, Nigerian Institute of Medical Research, Lagos, Nigeria.

Background: Stroke is a devastating complication of sickle cell anemia (SCA) and can be predicted through abnormally high cerebral blood flow velocity using transcranial Doppler Ultrasonography (TCD). The evidence on the role of alpha-thalassemia and glucose-6-phosphate dehydrogenase (G6PD) deficiency in the development of stroke in children with SCA is conflicting. Thus, this study investigated the association of alpha-thalassemia and G6PD(A ) variant with abnormal TCD velocities among Nigerian children with SCA. Read More

Blood Res 2021 Apr;56(S1):S39-S43

Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.

Thalassemia is characterized by the impaired synthesis of globin chains due to disease-causing variants in α- or β-globin genes. In this review, we provide an overview of the molecular basis underlying α- and β-thalassemia, and of the current technologies used to characterize these disease-causing variants for the diagnosis of thalassemia. Understanding these molecular basis and technologies will prove to be beneficial for the accurate diagnosis of thalassemia. Read More

Haematologica 2021 04 22. Epub 2021 Apr 22.

Centre Hospitalier Intercommunal de Créteil, Service d'Imagerie Médicale, Créteil, France; AP-HP, Hôpital Universitaire Robert Debré, Service d'Imagerie Médicale, Paris.

Despite its high prevalence in children with sickle cell anemia (SCA), the pathophysiology of silent cerebral infarcts (SCIs) remains elusive. The main objective of this study was to explore the respective roles of major determinants of brain perfusion in SCA children with no past or current history of intracranial or extracranial vasculopathy. We used a multimodal approach based notably on perfusion imaging Arterial spin labelling (ASL) MRI and Near Infra-Red Spectroscopy (NIRS), as well as biomarkers reflecting blood rheology and endothelial activation. Read More

Sci Rep 2021 Apr 20;11(1):8552. Epub 2021 Apr 20.

Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom, Thailand.

The reactivation of γ-globin chain synthesis to combine with excess free α-globin chains and form fetal hemoglobin (HbF) is an important alternative treatment for β-thalassemia. We had reported HbF induction property of natural curcuminoids, curcumin (Cur), demethoxycurcumin (DMC) and bis-demethoxycurcumin (BDMC), in erythroid progenitors. Herein, the HbF induction property of trienone analogs of the three curcuminoids in erythroleukemic K562 cell lines and primary human erythroid progenitor cells from β-thalassemia/HbE patients was examined. Read More

Clin Lab 2021 Apr;67(4)

Background: Iron deficiency and thalassemia are two commonly encountered microcytic and hypochromic anemias. The primary objective was to find the best discriminant formula between alpha thalassemia and iron deficiency to be used in premarital screening centers. The secondary objective, was to find cutoff values that might differentiate alpha thalassemia, beta thalassemia, and iron deficiency collectively. Read More

BMJ Case Rep 2021 Apr 16;14(4). Epub 2021 Apr 16.

Department of Neonatal and Developmental Medicine, Singapore General Hospital, Singapore.

A Chinese male infant was born at 35 weeks weighing 2935 g to a mother with polyhydramnios and prenatal hydrops fetalis. He developed marked respiratory distress secondary to bilateral congenital chylothorax and required pleural drainage, high frequency oscillation and inhaled nitric oxide therapy. He was extubated to non-invasive ventilation by day 14. Read More

J Clin Ultrasound 2021 Apr 16. Epub 2021 Apr 16.

Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.

Objective: To evaluate the effectiveness of placental volume measured by virtual organ computer-aided analysis (VOCAL) at 12 to 14 weeks of gestation in predicting fetal hemoglobin (Hb) Bart's disease among pregnancies at risk.

Methods: This study involves 3-dimensional ultrasound (3D-US) volume datasets derived from pregnancies at risk of fetal Hb Bart's disease at 12 to 14 weeks of pregnancy. VOCAL technique was used to measure and calculate placental volume by the authors, who did not know the fetal diagnosis. Read More

Ann Hematol 2021 Apr 13. Epub 2021 Apr 13.

Internal Medicine and Hematology, Mustafa Kemal University Faculty of Medicine, Hatay, Turkey.

Thalassemia is a common genetic disorder. We aimed to present thalassemia mutation data that covers a period of 7 years from the Mediterranean region of Turkey by comparing with hemoglobin indices and to contribute to prenatal diagnosis and genetic counseling studies which should be decided very quickly. In this study, in which a retrospective archive was scanned, the cases were first grouped as α and β thalassemia, and then β thalassemia mutations were examined in a total of 5 groups as UTR-Pro, Codon, IVS, β, and β. Read More

Gut 2021 Apr 13. Epub 2021 Apr 13.

Department of Medicine, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.

Objective: Recent studies have found aristaless-related homeobox gene (ARX)/pancreatic and duodenal homeobox 1 (PDX1), alpha-thalassemia/mental retardation X-linked (ATRX)/death domain-associated protein (DAXX) and alternative lengthening of telomeres (ALT) to be promising prognostic biomarkers for non-functional pancreatic neuroendocrine tumours (NF-PanNETs). However, they have not been comprehensively evaluated, especially among small NF-PanNETs (≤2.0 cm). Read More

Hemoglobin 2021 Apr 11:1-3. Epub 2021 Apr 11.

Center for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People's Republic of China.

We report a novel mutation on the β-globin gene, Hb Hezhou [β64(E8)Gly→Ser; : c.193G>A] that was detected in two unrelated Chinese individuals. Patient 1 also carried an α-thalassemia (α-thal) -α (leftward) deletion, but hematological analyses showed no clinical consequences. Read More

Intern Emerg Med 2021 Apr 10. Epub 2021 Apr 10.

Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

Evaluating the effect of convalescent plasma (CP) on some cytokine storm indices in severe COVID-19 patients. Totally, 62 patients were randomly assigned into two groups for this clinical trial. Patients in the intervention group received one unit (500 mL) plasma on the admission day plus standard drugs while the controls merely received standard treatments. Read More

Ann Hematol 2021 Apr 8. Epub 2021 Apr 8.

Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, 40002, Thailand.

The δ-globin gene defects are clinically silent but interaction with β-thalassemia can lead to a misdiagnosis of β-thalassemia carrier. We report an extensive molecular characterization of δ-hemoglobinopathies in Thailand. Study was done on 32,108 subjects, encountered at the thalassemia screening. Read More

BMC Med Genomics 2021 Apr 7;14(1):97. Epub 2021 Apr 7.

Department of Pediatrics, Affiliated Hospital of Zunyi Medical University, Zunyi, 563000, Guizhou, China.

Background: α-thalassemia is relatively endemic in Guizhou province of southwestern China. To predict the clinical manifestations of α-globin gene aberration for genetic counseling, we examined the prevalence of the α-globin triplication and the genotype-phenotype correlation in this subpopulation METHODS: A cohort of 7644 subjects was selected from nine ethnicities covering four regions in Guizhou province of China. Peripheral blood was collected from each participant for routine blood testing and hemoglobin electrophoresis. Read More

J Clin Invest 2021 Apr 6. Epub 2021 Apr 6.

Department of Medicine, University of Verona, Verona, Italy.

Anemia in β-thalassemia is related to ineffective erythropoiesis and reduced red cell survival. Excess free heme and accumulation of unpaired α-globin chains impose substantial oxidative stress on β-thalassemic erythroblasts and erythrocytes, impacting cell metabolism. We hypothesized that increased pyruvate kinase activity induced by mitapivat (AG-348) in the Hbbth3/+ mouse model for β-thalassemia would reduce chronic hemolysis and ineffective erythropoiesis through stimulation of red cell glycolytic metabolism. Read More

Hemoglobin 2021 Apr 6:1-5. Epub 2021 Apr 6.

Division of Clinical Microscopy, Department of Medical Technology, Faculty of Associated Medical Sciences, Chiang Mai University, Chiang Mai, Thailand.

α-Thalassemia (α-thal) Chiang Rai (- -; NC_000016.10: g.144215_188843del) was identified as a novel 44. Read More

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2021 Apr;29(2):596-620

Department of Tumor and Hematology, The First People's Hospital of Honghe State, Mengzi 661100, Yunnan Province, China,E-mail:

Objective: To detecte the carrying rate, the type and distribution of α-Thalassemia gene mutation in Honghe Prefecture, Yunnan Province, and analyze the differences in average erythrocyte volume (MCV), mean erythrocyte hemoglobin content (MCH) and hemoglobin among different types of α-Thalassemia.

Methods: The DNA samples from small cell hypochromic carriers or anemia patients and women of childbearing age who underwent hematological screening in The First People's Hospital of Honghe State was from 2015 to 2019 were enrolled and analyzed, and the mutation types and frequency of alpha-thalassemia positive rate were diagnosed by PCR reverse dot blot or PCR fluorescence dissolution curve.

Results: Among the 1 016 samples, 141(13. Read More

Blood Cells Mol Dis 2021 Mar 26;89:102563. Epub 2021 Mar 26.

Department of Biochemistry, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand. Electronic address:

Hemoglobin H (Hb H) disease is the most significant health problem of the α-thalassemia syndromes. The Hb disease patients are categorized based on their genotype to deletional and nondeletional, with the latter genotype presents the more severe clinical symptoms. Since telomere length is an indicator of biological aging and health, we hypothesized that telomere length could reflect Hb H disease's severity. Read More

Hemoglobin 2021 Jan 1;45(1):49-51. Epub 2021 Apr 1.

Department of Hematology, Dongguan Houjie Hospital, Dongguan, Guangdong Province, People's Republic of China.

We detected a novel frameshift variant (: c.263delA) and - - (Southeast Asian), deletion in a 28-year-old Chinese woman with α-thalassemia (α-thal). This novel variant (a single nucleotide deletion at nucleotide 263 of codon 87) was detected by targeted next generation sequencing (NSG), resulting in a stop codon at amino acid 102 in exon 2 of the gene. Read More

Psychol Health Med 2021 Mar 31:1-15. Epub 2021 Mar 31.

Department of Pediatrics, Dayanand Medical College and Hospital, Ludhiana, India.

Thalassemia, a genetic blood disorder, involves an inability to produce sufficient hemoglobin and comprises two types: alpha thalassemia and beta thalassemia. Beta thalassemia's immediate treatment measures include frequent blood transmissions, stem cell and bone marrow transplants; all capable of altering an individual's idea of body image, self-concept, growth, and socialization, resulting in several emotional, psychological, and behavioral concerns. This study aimed at comprehending the dilemmas of body image and self-concept encountered by adolescents with thalassemia, particularly the resulting influence on physical development and socialization. Read More

Hemoglobin 2021 Jan 27;45(1):37-40. Epub 2021 Mar 27.

Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.

α-Thalassemia (α-thal) is an inherited blood disorder with different clinical manifestations. Although genetic causes of anemia are identified routinely in the majority of α-thal cases, a pathogenic variant in a few cases remains undiagnosed. In this study, some reported regulatory mutations have been investigated in five unsolved α-thal carriers. Read More

Hemoglobin 2021 Mar 29:1-4. Epub 2021 Mar 29.

Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong, People's Republic of China.

We describe a new α-globin chain variant in a Chinese subject. This novel variant, with a Val→Met substitution at codon 93 of the α-globin chain, has been named Hb Qingcheng (: c.280G>A) for where the proband was born. Read More

Genet Mol Biol 2021 26;44(2):e20200399. Epub 2021 Mar 26.

Universidad de la República (UdelaR), Centro Universitario Regional (CENUR) Litoral Norte, Departamento de Ciencias Biológicas, Laboratorio de Genética Molecular Humana, Salto, Uruguay.

Alpha thalassemia is the most common genetic disorder across the world, being the α-3.7 deletion the most frequent mutation. In order to analyze the spectrum and origin of alpha thalassemia mutations in Uruguay, we obtained a sample of 168 unrelated outpatients with normal hemoglobin levels with microcytosis and hypochromia from two cities: Montevideo and Salto. Read More

Medicine (Baltimore) 2021 Mar;100(12):e24804

Department of Pediatrics, Peking University People's Hospital, Beijing, China.

Rationale: The etiology of non-immune hydrops fetalis is complex, and its prognosis is poor. One of its main causes is anemia. There are few reports on hydrops fetalis due to anemia caused by hereditary spherocytosis (HS), especially regarding its occurrence in the neonatal period. Read More

Biochem Biophys Res Commun 2021 May 19;552:157-163. Epub 2021 Mar 19.

State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, 200438, China. Electronic address:

β-Thalassemia is an autosomal recessive genetic disease caused by defects in the production of adult hemoglobin (HbA, αβ), which leads to an imbalance between α- and non-α-globin chains. Reactivation of γ-globin expression is an effective strategy to treat β-thalassemia patients. Previously, it was demonstrated that hemoglobin subunit beta pseudogene 1 (HBBP1) is associated with elevated fetal hemoglobin (HbF, αγ) in β-thalassemia patients. Read More

Neuroradiology 2021 Mar 18. Epub 2021 Mar 18.

Department of Radiology, University of Minnesota Health, B-226 Mayo Memorial Building, MMC 292, 420 Delaware Street S.E., Minneapolis, MN, 55455, USA.

Purpose: To determine if dynamic susceptibility contrast perfusion MR imaging (DSC-pMRI) can predict significant genomic alterations in glioblastoma (GB).

Methods: A total of 47 patients with treatment-naive GB (M/F: 23/24, mean age: 54 years, age range: 20-90 years) having DSC-pMRI with leakage correction and genomic analysis were reviewed. Mean relative cerebral blood volume (rCBV), maximum rCBV, relative percent signal recovery (rPSR), and relative peak height (rPH) were derived from T2* signal intensity-time curves by ROI analysis. Read More

Nat Med 2021 04 18;27(4):677-687. Epub 2021 Mar 18.

Department of Pediatrics, Stanford University, Stanford, CA, USA.

β-Thalassemia pathology is due not only to loss of β-globin (HBB), but also to erythrotoxic accumulation and aggregation of the β-globin-binding partner, α-globin (HBA1/2). Here we describe a Cas9/AAV6-mediated genome editing strategy that can replace the entire HBA1 gene with a full-length HBB transgene in β-thalassemia-derived hematopoietic stem and progenitor cells (HSPCs), which is sufficient to normalize β-globin:α-globin messenger RNA and protein ratios and restore functional adult hemoglobin tetramers in patient-derived red blood cells. Edited HSPCs were capable of long-term and bilineage hematopoietic reconstitution in mice, establishing proof of concept for replacement of HBA1 with HBB as a novel therapeutic strategy for curing β-thalassemia. Read More

Genet Test Mol Biomarkers 2021 Mar;25(3):247-252

División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.

Alpha- and beta-thalassemia are caused by reduced or absent synthesis of hemoglobin (Hb) subunits α and/or β. , , and mutations are the main cause of thalassemias. The aim of this article is to analyze molecular and hematological features of α- and β-thal in a cohort of Mexican patients. Read More