7,078 results match your criteria Thalassemia Alpha


The Best Cutoff Value of Middle Cerebral Artery Peak Systolic Velocity for the Diagnosis of Fetal Homozygous Alpha Thalassemia-1 Disease.

Prenat Diagn 2019 Jan 16. Epub 2019 Jan 16.

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

Objective: To determine the best cutoff value of middle cerebral artery peak systolic velocity (MCA-PSV) for the diagnosis of fetuses with homozygous alpha thalassemia-1 disease.

Methods: Pregnancies at risk for fetal homozygous alpha thalassemia-1 disease at 18-22 weeks were recruited. MCA-PSV was measured before cordocentesis for hemoglobin typing and complete blood count. Read More

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http://dx.doi.org/10.1002/pd.5419DOI Listing
January 2019

Rare β- and δ-Globin Gene Mutations in the Pathare Prabhus: Original Inhabitants of Mumbai, India.

Hemoglobin 2019 Jan 9:1-5. Epub 2019 Jan 9.

b Surat Raktadan Kendra, Udhna Khatodara Urban Health Centre , Near Chosath Joganio Mata Mandir , Surat , Gujarat State , India.

Genetic structure of the Indian population is influenced by waves of several immigrants from West Eurasia. Therefore, genetic information of various ethnic groups is valuable to understand their origins, the pattern of migration as well as the genetic relationship between them. No genetic data is available on Pathare Prabhu, which is a small indigenous Hindu community from Mumbai, Maharashtra State, India. Read More

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http://dx.doi.org/10.1080/03630269.2018.1544909DOI Listing
January 2019

Rare Association of Hb D-Los Angeles (HBB: c.364G>C) with Hb H Disease: Diagnosis and Clinical Implications.

Hemoglobin 2019 Jan 9:1-3. Epub 2019 Jan 9.

a Child Health Department, Faculty of Medicine , University of Ioannina , Ioannina , Greece.

Hb D-Los Angeles (or Hb D-Punjab) (HBB: c.364G > C) is found worldwide and is derived from a point mutation in the β-globin gene prevalent in the Punjab region of Northwestern India. Heterozygous or homozygous inheritance does not cause significant medical problems, whereas association with other hemoglobinopathies, especially β-thalassemia (β-thal) and sickle cell disease, changes the phenotype. Read More

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http://dx.doi.org/10.1080/03630269.2018.1558066DOI Listing
January 2019

Targeting Telomerase and ATRX/DAXX Inducing Tumor Senescence and Apoptosis in the Malignant Glioma.

Int J Mol Sci 2019 Jan 8;20(1). Epub 2019 Jan 8.

Buddhist Tzu Chi Bioinnovation Center, Tzu Chi Foundation, Hualien 970, Taiwan.

Glioblastoma multiforme (GBM) is a type of brain tumor that is notorious for its aggressiveness and invasiveness, and the complete removal of GBM is still not possible, even with advanced diagnostic strategies and extensive therapeutic plans. Its dismal prognosis and short survival time after diagnosis make it a crucial public health issue. Understanding the molecular mechanisms underlying GBM may inspire novel and effective treatments against this type of cancer. Read More

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http://dx.doi.org/10.3390/ijms20010200DOI Listing
January 2019
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A Unique Interaction of IVS-I-1 (G>A) (HBA2: c.95+1G>A) with Hb Adana (HBA2: c.179G>A) Presenting as Transfusion-Dependent α-Thalassemia.

Hemoglobin 2018 Jul 9;42(4):247-251. Epub 2019 Jan 9.

e Department of Medical Science II , Faculty of Medicine and Health Science, Universiti Sains Islam Malaysia , Nilai , Malaysia.

Nondeletional α-globin mutations are known to cause more serious clinical effects than deletional ones. A rare IVS-I-1 (G>A) (HBA2: c.95+1G>A) donor splice site mutation interferes with normal splicing of pre mRNA and results in activation of a cryptic splice site as well as a frameshift mutation. Read More

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http://dx.doi.org/10.1080/03630269.2018.1528985DOI Listing
July 2018
0.955 Impact Factor

Presentation of Compound Heterozygous Hemoglobin Constant Spring and Hemoglobin Pakse in Neonates.

J Pediatr Hematol Oncol 2019 Jan 5. Epub 2019 Jan 5.

Departments of Pediatrics.

Background: Mutations causing α thalassemia are divided into deletion and nondeletion groups. In the nondeletion group, hemoglobin constant spring (Hb CS) and hemoglobin Pakse (Hb Pakse) are both caused by a termination codon mutation leading to elongation of the α2 globin gene. In the case of Hb CS, the mutation is TAA→CAA, whereas the mutation causing Hb Pakse is TAA→TAT. Read More

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http://Insights.ovid.com/crossref?an=00043426-900000000-9766
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http://dx.doi.org/10.1097/MPH.0000000000001406DOI Listing
January 2019
2 Reads

Results of Coexistence of β-Thalassemia Minor in Hb H Disease Patients.

Hemoglobin 2019 Jan 7:1-4. Epub 2019 Jan 7.

a Prenatal Diagnostic Center , Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University , Guangzhou, Guangdong Province , People's Republic of China.

The aim of this study was to determine the hematological characteristics in a large group of Hb H (β4) patients with or without a coexisting β-thalassemia (β-thal), identified by a thalassemia screening program in mainland China. A total of 361 patients with Hb H disease were found, including 343 with deletional types and 18 with nondeletional types. β-Thalassemia was found in 28 (7. Read More

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http://dx.doi.org/10.1080/03630269.2018.1561461DOI Listing
January 2019

Drepa-Opia: A Pilot Study to Determine the Predictive Factors of Morphine Use and Consumption in Hospitalized Adult Patients with Sickle Cell Disease.

Hemoglobin 2019 Jan 3:1-8. Epub 2019 Jan 3.

c Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM) EA7424, Equipe 'Biologie Vasculaire et du Globule Rouge' , Université Claude Bernard Lyon 1 , Communauté d'Universités et d'Establissments (COMUE) de Lyon, France.

The aim of this study was to evaluate the clinical, biological and genetic factors that could be associated with the use and dose of morphine during hospitalization for vaso-occlussive crisis (VOC) in adults with sickle cell disease. Ninety-nine hospitalizations for acute VOC (58 sickle cell disease patients aged 18 to 60 years, one to six hospitalizations each) were recorded; we investigated the associations between qualitative and quantitative opioid requirements and several biological, clinical, epidemiological and genetic parameters. Visual analog pain scale (VAS) was the only independent predictor of the qualitative need for morphine (mean value of 8. Read More

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http://dx.doi.org/10.1080/03630269.2018.1529602DOI Listing
January 2019
1 Read

Association of fetal hemoglobin level with frequency of acute pain episodes in sickle cell disease (HbS-only phenotype) patients.

Blood Cells Mol Dis 2018 Dec 20;75:30-34. Epub 2018 Dec 20.

School of Life Sciences, AIPH University, Bhubaneswar, Odisha, India. Electronic address:

Background: Sickle cell disease (SCD) is a Mendelian single gene disorder with highly variable phenotypic expression. In the present study, we analyzed the influence of HbF, alpha thalassemia and other hematological indices to determine their association with acute pain episodes.

Method: This case control study consisted of SCD subjects with HbS phenotype experiencing three or more acute pain episodes in last twelve months (cases) and without any episode of acute pain during last twelve months (controls). Read More

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http://dx.doi.org/10.1016/j.bcmd.2018.12.003DOI Listing
December 2018
1 Read

Novel nonsense mutation in the α1-globin gene [HBA1:C.49A>T] is responsible for non-deletion α-thalassemia.

Clin Biochem 2019 Jan 26;63:139-142. Epub 2018 Oct 26.

Servicio de Hematología y Hemoterapia, Hospital Clínico San Carlos, Madrid, Spain.

Background: In the α-thalassemia one of the less frequent mechanisms is the nonsense mutations, which generate the substitution of a triplet that encodes an amino acid for a stop codon and, therefore, protein synthesis stops prematurely. At present, 9 mutations of this type have been documented, 6 that affect the HBA2 gene and 3 that affect the HBA1 gene.

Objectives: We present a new mutation in CD16 of the HBA1 gene, where the change AAG>TAG generates a stop codon. Read More

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http://dx.doi.org/10.1016/j.clinbiochem.2018.10.015DOI Listing
January 2019
1 Read

Reticulocyte hemoglobin equivalent (Ret-He) in a thalassemia-prevalent area.

Pediatr Int 2018 Dec 29. Epub 2018 Dec 29.

Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, 270 Rama VI Road, Ratchathewi District, Bangkok, 10400, Thailand.

Introduction: Reticulocyte hemoglobin equivalent (Ret-He), a direct measure of the hemoglobin in the young RBC, has been reported to be useful in the diagnosis of iron deficiency anemia (IDA) but may have some limitations in thalassemia trait. This study aims to evaluate the differences of Ret-He levels in a population of school-aged children and to assess the diagnostic value of Ret-He in identifying IDA in a thalassemia-prevalent area.

Methods: Blood samples from subjects were tested for CBC including Ret-He, ferritin, serum iron and total iron binding capacity. Read More

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http://doi.wiley.com/10.1111/ped.13775
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http://dx.doi.org/10.1111/ped.13775DOI Listing
December 2018
4 Reads

Invasive molecular prenatal diagnosis of alpha and beta thalassemia among Hakka pregnant women.

Medicine (Baltimore) 2018 Dec;97(52):e13557

Clinical Core Laboratory.

This study is a retrospective analysis of the prenatal genetic diagnosis results of fetuses with high risk of major thalassemia to provide information for clinical genetic counseling and to better control the birth of major thalassemia child in Hakka population. Totally, 467 fetuses in at-risk pregnancies were collected from Meizhou people's hospital from January 2014 to December 2017. Genomic DNAs were extracted from peripheral blood of the couples and villus, amniotic fluid or cord blood of the fetuses. Read More

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http://dx.doi.org/10.1097/MD.0000000000013557DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6314693PMC
December 2018
1 Read

Maffucci syndrome complicated by three different central nervous system tumors sharing an IDH1 R132C mutation: case report.

J Neurosurg 2018 Dec 21:1-6. Epub 2018 Dec 21.

Departments of1Neurosurgery and.

Maffucci syndrome (MS) and Ollier disease (OD) are nonhereditary congenital diseases characterized by multiple enchondromas and/or chondrosarcomas. Recent studies have implicated somatic mosaic mutations of isocitrate dehydrogenase 1 or 2 (IDH1/2) as contributing to the pathogenesis of MS and OD. Occasionally, patients with these disorders may also present with central nervous system (CNS) tumors; however, detailed genetic analyses are limited. Read More

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http://dx.doi.org/10.3171/2018.6.JNS18729DOI Listing
December 2018
1 Read

[Ballantyne syndrome complicated by eclampsia: about a case and literature review].

Pan Afr Med J 2018 31;30:238. Epub 2018 Jul 31.

Service de Gynécologie-Obstétrique, Hôpital Militaire d'Instruction Mohamed V, Rabat, Maroc.

Ballantyne syndrome or preeclampsia (Mirror syndrome) is a rare clinical entity. Ethiopathogenesis is still poorly elucidated. Diagnosis must be suspected in patients with maternal edematous syndrome associated with fetal anasarca. Read More

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http://dx.doi.org/10.11604/pamj.2018.30.238.15296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6295295PMC
January 2019
2 Reads

Clinical Observations, Plasma Retinol Concentrations, and In Vitro Lymphocyte Functions in Children With Sickle Cell Disease.

Ochsner J 2018 ;18(4):308-317

Department of Pediatrics, Louisiana State University Health Sciences Center, New Orleans, LA.

Background: Children with sickle cell disease (SCD) often have infections, growth deficits, and impaired immunity, problems that also are observed in individuals with a vitamin A deficiency (plasma retinol concentration <20 μg/dL). The goal of this study was to investigate the association between vitamin A, health status, and the in vitro immune function of children with SCD.

Methods: Fifty-nine children (40 SS, 11 SC, and 8 Sβ [Sβ] hemoglobin genotypes) 9 months to 18 years old were investigated for plasma levels of retinol, retinol binding protein, C-reactive protein, alpha-1-acid glycoprotein, lymphocyte proliferation, and interleukin (IL)-2 activity in supernatant of phytohemagglutinin-treated lymphocytes. Read More

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http://dx.doi.org/10.31486/toj.17.0044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292479PMC
January 2018
1 Read

The Chaperones Involved in Hemoglobin Synthesis Take the Spotlight: Analysis of AHSP in the Argentinean Population and Review of the Literature.

Hemoglobin 2018 Dec 17:1-5. Epub 2018 Dec 17.

a Departamento de Microbiología , Universidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Inmunología, Biotecnología y Genética/Cátedra de Genética , Buenos Aires , Argentina.

Hemoglobin (Hb) synthesis is a complex, well-coordinated process that requires molecular chaperones. These intervene in different steps: regulating epigenetic mechanisms necessary for the adequate expression of the α- and β-globin clusters, binding the nascent peptides and helping them acquire their native structure, preventing oxidative damage by free globin chains and preventing the cleavage of essential erythroid transcription factors. This study analyzed the distribution of the single nucleotide polymorphism (SNP) rs4296276 in intron 1 of the α-globin chaperone α Hb-stabilizing protein (AHSP) in the Argentinean population. Read More

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http://dx.doi.org/10.1080/03630269.2018.1544145DOI Listing
December 2018
1 Read

Causes of Hypochromic Microcytic Anemia in Children and Evaluation of Laboratory Parameters in the Differentiation.

J Pediatr Hematol Oncol 2018 Dec 14. Epub 2018 Dec 14.

Kanuni Sultan Suleyman Training and Research Hospital, Pediatric Hematology Oncology, Istanbul, Turkey.

Most common causes of microcytic anemia in children are iron deficiency anemia (IDA) and thalassemia. Differentiation of these and detection of coexistence is essential for genetic counseling and to set a treatment plan. Aim is to characterize the frequency of IDA and thalassemia trait (TT) in children presenting with hypochromic, microcytic anemia and to define the significance of blood count parameters in differential diagnosis. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001382DOI Listing
December 2018
16 Reads

Atypical Prenatal Ultrasound Presentation and Neuropathological Findings in a Neonate With Alpha Thalassemia Major: A Case Report.

Pediatr Dev Pathol 2018 Dec 14:1093526618817655. Epub 2018 Dec 14.

1 Department of Pathology and Laboratory Medicine, University of Calgary, Calgary, Canada.

Alpha thalassemia major is a hemoglobinopathy caused by the inactivation or deletion of all 4 α-globin alleles. We describe a case of α-thalassemia major with atypical ultrasound and neuropathological findings. The mother had her first prenatal visit at 27 4/7 gestational weeks. Read More

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http://dx.doi.org/10.1177/1093526618817655DOI Listing
December 2018
1 Read

Global analysis of erythroid cells redox status reveals the involvement of Prdx1 and Prdx2 in the severity of beta thalassemia.

PLoS One 2018 6;13(12):e0208316. Epub 2018 Dec 6.

Universidade Federal de São Carlos (UFSCar), Departamento de Genética e Evolução, São Carlos, Brazil.

β-thalassemia is a worldwide distributed monogenic red cell disorder, characterized by an absent or reduced beta globin chain synthesis. The unbalance of alpha-gamma chain and the presence of pathological free iron promote severe oxidative damage, playing crucial a role in erythrocyte hemolysis, exacerbating ineffective erythropoiesis and decreasing the lifespan of red blood cells (RBC). Catalase, glutathione peroxidase and peroxiredoxins act together to protect RBCs from hydrogen peroxide insult. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0208316PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283586PMC
December 2018
2 Reads

Common fetal hemoglobin variants in Lebanese patients bearing the codon 29 beta gene mutation associated with different thalassemia phenotypes.

Ann Hematol 2018 Nov 30. Epub 2018 Nov 30.

Department of Internal Medicine, American University of Beirut Medical Center, PO Box 11-0236, Beirut, 11072020, Lebanon.

Beta-thalassemia can present with a wide spectrum of phenotypes determined by the coinheritance of α-thalassemia, hereditary persistence of fetal hemoglobin, and polymorphic variants in the BCL11A, HMIP, and HBB clusters. The codon 29 (cd29) mutation in the beta gene has been associated with a broad diversity of thalassemia phenotypes, possibly through genetic modifiers determining the genotype-phenotype relationship. In this study, we evaluated the effect of 10 single nucleotide polymorphisms (SNPs) on β-thalassemia severity in a group of 21 Lebanese patients bearing the cd29 mutation. Read More

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http://link.springer.com/10.1007/s00277-018-3567-3
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http://dx.doi.org/10.1007/s00277-018-3567-3DOI Listing
November 2018
9 Reads

Molecular profile of tumors with oligodendroglial morphology: Clinical relevance.

Neurol India 2018 Nov-Dec;66(6):1726-1731

Department of Radiotherapy, Christian Medical College, Vellore, Tamil Nadu, India.

Background: The plethora of biomarkers available for the diagnosis and prognostication of gliomas has refined the classification of gliomas. The new World Health Organization (WHO) 2016 classification integrates the phenotypic and genotyping features for a more robust diagnosis.

Materials And Methods: Fifty gliomas with oligodendroglial morphology according to the WHO 2007 classification were analyzed for isocitrate dehydrogenase 1 and 2 (IDH1/2) mutations by polymerase chain reaction, 1p/19q status by fluorescent in situ hybridization (FISH), and IDH1 and X-linked alpha-thalassemia retardation (ATRX) expression by immunohistochemistry. Read More

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http://dx.doi.org/10.4103/0028-3886.246275DOI Listing
December 2018
1 Read

Inherited hemolytic anemia: a possessive beginner's guide.

Authors:
Narla Mohandas

Hematology Am Soc Hematol Educ Program 2018 11;2018(1):377-381

New York Blood Center, New York, NY.

Significant advances have been made in diagnosis and clinical management of inherited red cell membrane disorders that result in hemolytic anemia. Membrane structural defects lead to hereditary spherocytosis (HS) and hereditary elliptocytosis (HE), whereas altered membrane transport function accounts for hereditary xerocytosis (HX) and hereditary overhydrated stomatocytosis (OHS). The degrees of membrane loss and resultant increases in cell sphericity determine the severity of anemia in HS and HE, and splenectomy leads to amelioration of anemia by increasing the circulatory red cell life span. Read More

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http://dx.doi.org/10.1182/asheducation-2018.1.377DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6245988PMC
November 2018
1 Read

Potential new approaches to the management of the Hb Bart's hydrops fetalis syndrome: the most severe form of α-thalassemia.

Hematology Am Soc Hematol Educ Program 2018 11;2018(1):353-360

Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom.

The α-thalassemia trait, associated with deletions removing both α-globin genes from 1 chromosome (genotype ζ αα/ζ--), is common throughout Southeast Asia. Consequently, many pregnancies in couples of Southeast Asian origin carry a 1 in 4 risk of producing a fetus inheriting no functional α-globin genes (ζ--/ζ--), leading to hemoglobin (Hb) Bart's hydrops fetalis syndrome (BHFS). Expression of the embryonic α-globin genes (ζ-globin) is normally limited to the early stages of primitive erythropoiesis, and so when the ζ-globin genes are silenced, at ∼6 weeks of gestation, there should be no α-like globin chains to pair with the fetal γ-globin chains of Hb, which consequently form nonfunctional tetramers (γ) known as Hb Bart's. Read More

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http://dx.doi.org/10.1182/asheducation-2018.1.353DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6246003PMC
November 2018
1 Read

Sickle Cell and α+-Thalassemia Traits Influence the Association between Ferritin and Hepcidin in Rural Kenyan Children Aged 14-26 Months.

J Nutr 2018 Dec;148(12):1903-1910

Department of Nutrition, University of California, Davis, Davis, CA.

Background: The relation between subclinical hemoglobinopathies and concentrations of the iron-regulatory hormone hepcidin is not well characterized.

Objective: We investigated the relation of hepcidin concentration with hemoglobinopathies among young children in Kenya.

Methods: We quantified serum hepcidin and ferritin in 435 Kenyan children aged 14-20 mo in a subsample of the Water, Sanitation, and Handwashing (WASH) Benefits Trial. Read More

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http://dx.doi.org/10.1093/jn/nxy229DOI Listing
December 2018
2 Reads

The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center.

Int J Lab Hematol 2018 Nov 29. Epub 2018 Nov 29.

National Institute of Immunohaematology, Mumbai, India.

Introduction: The hemoglobinopathies pose a significant health burden in India. Apart from the β thalassemias and sickle cell disorders, α thalassemias and structural hemoglobin variants are also common. Here we have reviewed the phenotypic and molecular diversity of hemoglobinopathies encountered at a referral center in western India over a period of 15 years. Read More

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http://dx.doi.org/10.1111/ijlh.12948DOI Listing
November 2018
3 Reads

Effect of Assorted Globin Haplotypes and α-Thalassemia on the Clinical Heterogeneity of Hb S-β-Thalassemia.

Hemoglobin 2018 Jul 29;42(4):236-242. Epub 2018 Nov 29.

e Department of Haematogenetics , National Institute of Immuno-Haematology , Parel, Mumbai , India.

Hemoglobinopathies and thalassemias are the most commonly encountered monogenic disorders of blood in humans, posing a major genetic and public health problem round the globe. Hb S (HBB: c.20A>T)-β-thalassemia (β-thal) is a compound aberrant heterozygosity with inconsistent phenotypic expression, which are poorly described and clinically mapped. Read More

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http://dx.doi.org/10.1080/03630269.2018.1536666DOI Listing
July 2018
3 Reads

A Rare Hb H Hydrops Fetalis Syndrome Caused by the - - Deletion in Combination with the Rare Hb Hirosaki Mutation in a Chinese Patient.

Hemoglobin 2018 Jul 29;42(4):278-280. Epub 2018 Nov 29.

b Department of Gynecology and Obstetrics, Technology Center of Prenatal Diagnosis and Genetic Diseases Diagnosis, Nanfang Hospital , Southern Medical University , Guangzhou , Guangdong Province , People's Republic of China.

Despite the milder clinical severity of Hb H patients compared with those of Hb Bart's hydrops fetalis or patients with β-thalassemia major (β-TM), a few cases of Hb H hydrops fetalis syndrome have been reported so far. Here, we describe, for the first time in the Chinese population, one case of a neonate with Hb H hydrops fetalis syndrome caused by the - - (Southeast Asian) deletion in combination with the Hb Hirosaki (HBA2: c.132C>G, p. Read More

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https://www.tandfonline.com/doi/full/10.1080/03630269.2018.1
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http://dx.doi.org/10.1080/03630269.2018.1536665DOI Listing
July 2018
5 Reads

Oxidative Stress in β-Thalassemia.

Mol Diagn Ther 2018 Nov 27. Epub 2018 Nov 27.

Department of Hematology, Hadassah-Hebrew University Medical Center, Ein-Kerem, POB 12,000, 91120, Jerusalem, Israel.

Cell oxidative status, which represents the balance between oxidants and antioxidants, is involved in normal functions. Under pathological conditions, there is a shift toward the oxidants, leading to oxidative stress, which is cytotoxic, causing oxidation of cellular components that result in cell death and organ damage. Thalassemia is a hereditary hemolytic anemia caused by mutations in globin genes that cause reduced or complete absence of specific globin chains (commonly, α or β). Read More

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http://dx.doi.org/10.1007/s40291-018-0373-5DOI Listing
November 2018
9 Reads

The population dynamics of haemoglobins A, A, F and S in the context of the haemoglobinopathies HbS and α+thalassaemia in Kenyan infants.

Haematologica 2018 Nov 22. Epub 2018 Nov 22.

KEMRI-Wellcome Trust Research Programme, Kilifi, Kenya

Few studies have described the dynamics of haemoglobin production in African populations with a high prevalence of haemoglobinopathies. We have used the BioRad Variant ClassicTM HPLC method to document the production patterns of the common haemoglobin variants HbA, HbA2, HbF and HbS, stratified by a+thalassaemia genotype, among 15,301 infants recruited to a study on the Coast of Kenya. Notably, we confirm that HbA2 measurements determined using this instrument are unreliable in HbAS and HbSS subjects. Read More

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http://dx.doi.org/10.3324/haematol.2018.199596DOI Listing
November 2018
1 Read

Frequency of α-Globin Gene Triplications and Coinheritance with β-Globin Gene Mutations in the Iranian Population.

Hemoglobin 2018 Nov 19:1-5. Epub 2018 Nov 19.

a Genetics Research Center, University of Social Welfare and Rehabilitation Sciences , Tehran , Iran.

Numerical variation in α-globin genes is very important due to their roles as an effective factor for phenotype presentation. An unequal crossover from misalignment of a homologous sequence of an α-globin gene during meiosis can produce a numerical alteration. A single α-globin gene deletion is the most frequent mutation in α-thalassemia (α-thal) worldwide, while the additional α-globin chain is relatively common. Read More

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http://dx.doi.org/10.1080/03630269.2018.1526192DOI Listing
November 2018
5 Reads
0.955 Impact Factor

Increased Prevalence of Thalassemia in Young People in Korea: Impact of Increasing Immigration.

Ann Lab Med 2019 Mar;39(2):133-140

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

Background: Thalassemia is highly prevalent in Southeast Asia but is rare in Korea; however, Southeast Asian immigrant population is recently rising in Korea. We investigated the prevalence of thalassemia in Korea in the context of increasing immigration.

Methods: This prospective, observational, multicenter study was conducted between September 2015 and August 2017. Read More

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http://dx.doi.org/10.3343/alm.2019.39.2.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240526PMC
March 2019
5 Reads

Prevalence of inherited blood disorders and associations with malaria and anemia in Malawian children.

Blood Adv 2018 Nov;2(21):3035-3044

Department of Pediatrics and.

In sub-Saharan Africa, inherited causes of anemia are common, but data are limited regarding the geographical prevalence and coinheritance of these conditions and their overall contributions to childhood anemia. To address these questions in Malawi, we performed a secondary analysis of the 2015-2016 Malawi Micronutrient Survey, a nationally and regionally representative survey that estimated the prevalence of micronutrient deficiencies and evaluated both inherited and noninherited determinants of anemia. Children age 6 to 59 months were sampled from 105 clusters within the 2015-2016 Malawi Demographic Health Survey. Read More

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http://www.bloodadvances.org/lookup/doi/10.1182/bloodadvance
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http://dx.doi.org/10.1182/bloodadvances.2018023069DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234379PMC
November 2018
12 Reads

Loss of ATRX/DAXX expression and alternative lengthening of telomeres in uterine leiomyomas.

Cancer 2018 Dec 13;124(24):4650-4656. Epub 2018 Nov 13.

Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.

Background: Uterine leiomyomas (ULs) are the most common gynecologic tumors and affect 3 of every 4 women by the age of 50 years. The majority of ULs are classified as conventional tumors, whereas 10% represent various histopathological subtypes with features that mimic malignancy. These subtypes include cellular and mitotically active ULs and ULs with bizarre nuclei. Read More

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http://doi.wiley.com/10.1002/cncr.31754
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http://dx.doi.org/10.1002/cncr.31754DOI Listing
December 2018
7 Reads

Prevalence of α-Thalassemia in the Egyptian Population.

Hemoglobin 2018 Nov 13:1-4. Epub 2018 Nov 13.

b Clinical and Chemical Pathology Department, Faculty of Medicine , Cairo University , Cairo , Egypt.

Hemoglobinopathies are the most common monogenic diseases in the world, causing many health problems worldwide. In Egypt, thalassemia is the most common cause of chronic hemolytic anemia and correlated with significant morbidity and mortality. One thousand Egyptian newborns were screened to detect α-thalassemia (α-thal) deletions using polymerase chain reaction (PCR)-based DNA analysis of cord blood samples. Read More

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https://www.tandfonline.com/doi/full/10.1080/03630269.2018.1
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http://dx.doi.org/10.1080/03630269.2018.1527231DOI Listing
November 2018
12 Reads

Molecular analysis of hemoglobinopathies in a large ethnic Hakka population in southern China.

Medicine (Baltimore) 2018 Nov;97(45):e13034

Clinical Core Laboratory.

Thalassemia is an inherited autosomal recessive disorder with microcytic hypochromic anemia resulting from reduced or absent synthesis of 1 or more of the globin chains of hemoglobin. This study provided the insight into prevalence and molecular characterization of thalassemia in Hakka population. 14,524 unrelated subjects were included in our study from January 2015 to November 2017. Read More

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http://dx.doi.org/10.1097/MD.0000000000013034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6250515PMC
November 2018
1 Read

A potential common role of the Jumonji C domain-containing 1A histone demethylase and chromatin remodeler ATRX in promoting colon cancer.

Oncol Lett 2018 Nov 24;16(5):6652-6662. Epub 2018 Sep 24.

Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma, OK 73104, USA.

Jumonji C domain-containing 1A (JMJD1A) is a histone demethylase and epigenetic regulator that has been implicated in cancer development. In the current study, its mRNA and protein expression was analyzed in human colorectal tumors. It was demonstrated that JMJD1A levels were increased and correlated with a more aggressive phenotype. Read More

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http://www.spandidos-publications.com/10.3892/ol.2018.9487
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http://dx.doi.org/10.3892/ol.2018.9487DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6202502PMC
November 2018
5 Reads

Validation of a patient-reported outcomes symptom measure for patients with nontransfusion-dependent thalassemia (NTDT-PRO ).

Am J Hematol 2019 Feb 26;94(2):177-183. Epub 2018 Nov 26.

Aghia Sophia Children's Hospital, Athens, Greece.

This study demonstrates the quantitative characteristics of the first patient-reported outcome (PRO) tool developed for patients with nontransfusion-dependent β-thalassemia (NTDT), the NTDT-PRO . A multicenter validation study was performed over 24 weeks, involving 48 patients from Italy, Lebanon, Greece, and Thailand. Most patients were female (68. Read More

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http://dx.doi.org/10.1002/ajh.25344DOI Listing
February 2019
10 Reads

Anaemia among females in child-bearing age: Relative contributions, effects and interactions of α- and β-thalassaemia.

PLoS One 2018 2;13(11):e0206928. Epub 2018 Nov 2.

MRC Molecular Haematology Unit, MRC Weatherall Institute Molecular Medicine, University of Oxford, Oxford, United Kingdom.

Introduction: Anaemia in women during pregnancy and child bearing age is one of the most common global health problems. Reasons are numerous, but in many cases only minimal attempts are made to elucidate the underlying causes. In this study we aim to identify aetiology of anaemia in women of child bearing age and to determine the relative contributions, effects and interactions of α- and β-thalassaemia in a region of the world where thalassaemia is endemic. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0206928PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6214573PMC
November 2018
9 Reads
3.234 Impact Factor

Alterations of anticoagulant proteins and soluble endothelial protein C receptor in thalassemia patients of Chinese origin.

Thromb Res 2018 12 18;172:61-66. Epub 2018 Oct 18.

Department of Hematology, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi Province 530021, China. Electronic address:

Background: Thalassemia is characterized by a hypercoagulable state in which the protein C (PC) pathway controls thrombosis. We investigated changes in PC, protein S (PS), antithrombin III (AT III) and soluble endothelial protein C receptor (sEPCR) in thalassemia.

Methods: A group of 129 patients with β-thalassemia major (β-TM), β-thalassemia intermedia (β-TI), α-thalassemia intermedia (α-TI) and combined α-/β-thalassemia (α + β-thal) were compared with 32 gender- and age-matched controls. Read More

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http://dx.doi.org/10.1016/j.thromres.2018.10.016DOI Listing
December 2018
1 Read

[Rapid preimplantation genetic diagnosis of -thalassemia SEA deletion with blastocyst cell whole genome amplification and short fragment Gap-PCR method].

Nan Fang Yi Ke Da Xue Xue Bao 2018 Sep;38(10):1250-1254

Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, China.

Objective: To develop a rapid preimplantation genetic diagnosis method for -thalassemia SEA deletion based on blastocyst cell whole genome amplification (WGA) combined with short fragment Gap-PCR.

Methods: Using multiple displacement amplification (MDA) WGA technique, we established a double-fluorescent PCR system of the housekeeping genes GAPDH and β-actin for WGA quality testing, and a genotyping PCR system of mutant and normal short sequences for α-thalassemia SEA deletion. The sensitivity and accuracy of this method for diagnosis of -thalassemia SEA deletion were evaluated by detecting lymphocyte samples containing different cell numbers from carriers of SEA deletion. Read More

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http://dx.doi.org/10.3969/j.issn.1673-4254.2018.10.16DOI Listing
September 2018
1 Read

Falsely high HbA value due to a novel α1-globin gene mutation: Hb shantou [α127(H10)Lys > Glu; HBA1: c.382 A > G].

Scand J Clin Lab Invest 2018 Oct 30:1-5. Epub 2018 Oct 30.

a Department of Laboratory Medicine , Peking University Shenzhen Hospital , Shenzhen , Guangdong , China.

Hemoglobin A (HbA) is a widely utilized biomarker for the diagnosis and management of diabetes mellitus. Here, we describe an α1-globin chain hemoglobin variant and investigate its effect on HbA measurement. A 26-year-old pregnant woman was suspected to harbor a hemoglobin variant following HbA measurement during a routine prenatal examination using D10 (Bio-Rad). Read More

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http://dx.doi.org/10.1080/00365513.2018.1531298DOI Listing
October 2018
3 Reads
2.010 Impact Factor

Production and Transduction of a Human Recombinant β-Globin Chain into Proerythroid K-562 Cells To Replace Missing Endogenous β-Globin.

Mol Pharm 2018 Nov 12. Epub 2018 Nov 12.

Laboratory of Pharmacology, School of Pharmacy, Faculty of Health Sciences , Aristotle University of Thessaloniki , Thessaloniki 54124 , Macedonia , Greece.

Protein replacement therapy (PRT) has been applied to treat severe monogenetic/metabolic disorders characterized by a protein deficiency. In disorders where an intracellular protein is missing, PRT is not easily feasible due to the inability of proteins to cross the cell membrane. Instead, gene therapy has been applied, although still with limited success. Read More

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http://pubs.acs.org/doi/10.1021/acs.molpharmaceut.8b00857
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http://dx.doi.org/10.1021/acs.molpharmaceut.8b00857DOI Listing
November 2018
8 Reads

HbE Level and Red Cell Parameters in Heterozygous HbE With and Without α-Thalassemia Trait.

Indian J Hematol Blood Transfus 2018 Oct 12;34(4):662-665. Epub 2018 Mar 12.

2Associated Medical Sciences Clinical Service Center, Faculty of Associated Medical Sciences, Chiang Mai University, Chiang Mai, Thailand.

We compared hemoglobin (Hb) E levels and red cell parameters between heterozygous HbE with and without α-thalassemia trait and also determine their appropriated cut-off points for differentiating these two groups. High performance liquid chromatography analysis results and mean levels of red blood cell (RBC) parameters, including RBC count, total Hb, hematocrit, MCV, MCH and MCHC of heterozygous HbE with α-thalassemia trait (n = 183) and without α-thalassemia trait (n = 1437) were reviewed and compared. The α-thalassemia status in these samples was detected by real-time PCR with SYBR Green1 and high resolution melting analysis. Read More

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http://dx.doi.org/10.1007/s12288-018-0947-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186250PMC
October 2018

[Analysis for the pregnancy outcome of cystic hygroma fetuses and correlation with increased nuchal translucency in first trimester].

Authors:
Q Wang X Wang

Zhonghua Fu Chan Ke Za Zhi 2018 Oct;53(10):665-670

Department of Perinatal Medicine, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China.

To analyze prognosis-related risk factors of first trimester cystic hygroma (CH) fetuses in which nuchal translucency (NT) was found to be thickened. Tolly 216 singleton pregnancies in which fetal NT≥3.0 mm at the 11~13 weeks scan accepted invasive prenatal diagnosis in Beijing Gynecology and Obstetrics Hospital, Capital Medical University, from January 2014 to December 2015 were collected. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0529-567x.2018.10.003DOI Listing
October 2018
2 Reads

Prenatal diagnosis and management of fetal discordant alpha-thalassaemia in dichorionic diamniotic (DCDA) twins.

BMJ Case Rep 2018 Oct 25;2018. Epub 2018 Oct 25.

Department of Obstetrics and Gynecology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.

A 29-year-old nulliparous woman with a dichorionic diamniotic (DCDA) twin pregnancy was referred to our hospital at 16 weeks' gestation for prenatal diagnosis. She was diagnosed of Haemoglobin H Constant Spring (Hb H CS; --/αα) and her husband of alpha thalassemia-1 trait (--/αα). Detailed ultrasound showed that left twin had fetal anaemia and early signs of hydrops while the right one was normal. Read More

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http://dx.doi.org/10.1136/bcr-2018-224362DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6202988PMC
October 2018
3 Reads

Analysis of Gene Mutation Types of α- and β-Thalassemia in Fuzhou, Fujian Province in China.

Hemoglobin 2018 May 22;42(3):143-147. Epub 2018 Oct 22.

a Department of Hematology , The Affiliated People's Hospital of Fujian University of Traditional Chinese Medicine , Fuzhou , Fujian Province , People's Republic of China.

The aim of this study was to explore the type and distribution of α- and β-thalassemia (α- and β-thal) mutations/deletions in Fuzhou, Fujian Province, People's Republic of China (PRC). For patients whose mean corpuscular volume (MCV) and mean corpuscular hemoglobin (Hb) (MCH) conforms to the characteristics of thalassemia, gap-polymerase chain reaction (gap-PCR) and PCR-reverse dot-blot assays were used to detect α- and β-thal mutations/deletions. Four hundred and twenty-eight cases of thalassemia were detected in 752 suspected cases of thalassemia, including 248 cases of α-thal (57. Read More

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https://www.tandfonline.com/doi/full/10.1080/03630269.2018.1
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http://dx.doi.org/10.1080/03630269.2018.1496096DOI Listing
May 2018
7 Reads

Determination of HbA by quantitative bottom-up proteomics and isotope dilution mass spectrometry.

Clin Chim Acta 2018 Dec 17;487:318-324. Epub 2018 Oct 17.

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti, Centro per la Riferibilità Metrologica in Medicina di Laboratorio (CIRME), Università degli Studi di Milano, Milano, Italy. Electronic address:

Background: Poor comparability between laboratories is often observed in the measurement of HbA. A measurement procedure of higher metrological order is needed for value assignment to a reference material that shall be used as primary calibrator.

Method: A reference measurement procedure has been developed based on isotope dilution mass spectrometry (IDMS). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00098981183055
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http://dx.doi.org/10.1016/j.cca.2018.10.024DOI Listing
December 2018
6 Reads

Borderline hemoglobin A levels in northern Thai population: HBB genotypes and effects of coinherited alpha-thalassemia.

Blood Cells Mol Dis 2019 Feb 4;74:13-17. Epub 2018 Oct 4.

Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, 50200, Thailand. Electronic address:

Introduction: Identification of beta-thalassemia carrier in prenatal screening relies on the elevated Hb A level. Borderline Hb A levels pose a diagnostic challenge. We determined the HBB genotypes in subjects with borderline Hb A in northern Thailand and studied the effects of coinherited alpha-thalassemia on Hb A levels. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10799796183029
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http://dx.doi.org/10.1016/j.bcmd.2018.10.002DOI Listing
February 2019
12 Reads