journal
MENU ▼
Read by QxMD icon Read
search

Hemoglobin

journal
https://www.readbyqxmd.com/read/28741988/comparison-of-quality-of-life-in-patients-with-%C3%AE-thalassemia-intermedia-and-%C3%AE-thalassemia-major-in-southern-iran
#1
Sezaneh Haghpanah, Sara Vahdati, Mehran Karimi
Increased life expectancy in patients with β-thalassemia (β-thal) requires healthcare professionals to give greater attention to improving their quality of life (QoL). We aimed to evaluate health-related QoL (HRQoL) and its determinants in patients with β-thal intermedia (β-TI) compared with β-thal major (β-TM). In this cross sectional study, 118 patients with β-TI, referred to the Thalassemia Clinic of Shiraz University of Medical Sciences, Shiraz, Iran, were investigated by convenience sampling from January to June 2014 in southern Iran...
July 25, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28670945/coinheritance-of-hb-bristol-alesha-%C3%AE-67-e11-val%C3%A2-met-hbb-c-202g-a-and-the-%C3%AE-212-patchwork-allele-in-a-brazilian-child-with-severe-congenital-hemolytic-anemia
#2
Gisele A Pedroso, Elza M Kimura, Magnun N N Santos, Dulcinéia M Albuquerque, Jucilane L H Ferruzzi, Susan E Jorge, Fernando F Costa, Sara T O Saad, Maria F Sonati
Hb Bristol-Alesha [HBB: c.202G>A; β 67 Val>Met] is a rare structural variant of hemoglobin (Hb) resulting from a GTG>ATG substitution at codon 67 of the β-globin gene that leads to the replacement of valine by methionine in the corresponding position of the β-globin chain. The methionine residue is subsequently modified to aspartic acid [β67(E11)Val-Met→Asp], possibly by autoxidation mechanisms. This substitution prevents normal non-polar binding of Val67 to the heme group, resulting in molecular instability and severe hemolysis...
July 3, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28696845/decompensated-cirrhosis-and-sickle-cell-disease-case-reports-and-review-of-the-literature
#3
Roberta D'Ambrosio, Marco Maggioni, Maria F Donato, Pietro Lampertico, Maria D Cappellini, Giovanna Graziadei
Although its prevalence is unknown, liver involvement by sickle cell disease is not uncommon and encompasses different clinical spectra including non cholestatic and cholestatic disorders. Few data have been provided on chronic sickle cell intrahepatic cholestasis (SCIC) clinical course, although cirrhosis has been reported in sickle cell disease. However, no effective therapeutic approaches have been recognized either to prevent or treat this condition. Here we present two cases of adult sickle cell disease patients with decompensated cirrhosis...
March 2017: Hemoglobin
https://www.readbyqxmd.com/read/28696844/comparison-of-micrornas-mediated-in-reactivation-of-the-%C3%AE-globin-in-%C3%AE-thalassemia-patients-responders-and-non-responders-to-hydroxyurea
#4
Mohammad T Hojjati, Azita Azarkeivan, Ali A Pourfathollah, Naser Amirizadeh
Drug induction of Hb F seems to be an ideal therapy for patients with hemoglobin (Hb) disorders, and many efforts have been made to reveal the mechanism behind it. Thus, we examined in vivo expression of some microRNAs (miRNAs) that are thought to be involved in this process. Among β-thalassemia (β-thal) patients who were undergoing hydroxyurea (HU) therapy in the past 3 months and five healthy individuals, five responders and five non-responders, were also included in the study. Erythroid progenitors were isolated by magnetic activated cell sorting (MACS) and miRNA expression analyzed using reverse transcription-polymerase chain reaction (RT-PCR)...
March 2017: Hemoglobin
https://www.readbyqxmd.com/read/28696843/hb-amsterdam-a1-%C3%AE-32-b13-met%C3%A2-ile-hba1-c-99g-a-a-hyperunstable-variant-due-to-a-new-mutation-on-the-%C3%AE-1-gene
#5
Stephen O Brennan, Darrell Wang, Mark Horridge, Campbell R Sheen
Patients with hyperunstable α chain variants usually present with a thalassemic, rather than hemolytic, phenotype. Electrophoretic, ion exchange and reverse phase separations usually fail to detect the variant and when DNA sequencing identifies a 'silent' substitution it is usually presumed to be hyperunstable. We report the identification of such a variant, α32(B13)Met→Ile; HBA1: c.99G>A, arising from a new mutation on the α1 gene. The hemoglobin (Hb) was unequivocally detected by the isopropanol stability test and confirmed as hyperunstable by mass spectrometry (MS) of the precipitate and lysate, which showed proportions of 55% and 2...
March 2017: Hemoglobin
https://www.readbyqxmd.com/read/28671035/molecular-characterization-of-%C3%AE-thalassemia-mutations-in-central-vietnam
#6
Maria G Doro, Giuseppina Casu, Laura Frogheri, Ivana Persico, Le Phan Minh Triet, Phan Thi Thuy Hoa, Nguyen Huy Hoang, Monica Pirastru, Paolo Mereu, Francesco Cucca, Bruno Masala
The molecular basis of β-thalassemia (β-thal) mutations in North and in South Vietnam have been described during the past 15 years, whereas limited data were available concerning the central area of the country. In this study, we describe the molecular characterization and frequency of β-globin gene mutations in the Thua Thien Hue Province of Central Vietnam as the result of a first survey conducted in 22 transfusion-dependent patients, and four unrelated heterozygotes. Nine different known mutations were identified (seven of the β(0) and two of the β(+) type) in a total of 48 chromosomes...
March 2017: Hemoglobin
https://www.readbyqxmd.com/read/28670947/genetic-background-of-the-sickle-cell-disease-pediatric-population-of-dakar-senegal-and-characterization-of-a-novel-frameshift-%C3%AE-thalassemia-mutation-hbb-c-265_266del-p-leu89glufs-2
#7
Fatou Gueye Tall, Cyril Martin, El Hadji Malick Ndour, Indou Déme Ly, Céline Renoux, Louis Chillotti, Nicolas Veyrenche, Philippe Connes, Papa Madieye Gueye, Rokhaya Ndiaye Diallo, Philippe Lacan, Ibrahima Diagne, Pape Amadou Diop, Aynina Cissé, Philomène Lopez Sall, Philippe Joly
Sickle cell disease is a genetic disorder with a large variability in the pattern and severity of clinical manifestations. Different genetic modulators have been identified but very few epidemiologic data are available on these modifier genes in Senegal. This study aimed to determine their prevalence in a Senegalese sickle cell disease pediatric population. The following genetic parameters were genotyped in 295 sickle cell disease children of the Dakar pediatric hospital: sickle cell disease genotype [β(S)/β(S) (HBB: c...
March 2017: Hemoglobin
https://www.readbyqxmd.com/read/28670942/new-insights-on-%C3%AE-thalassemia-in-the-palestinian-population-of-gaza-high-frequency-and-milder-phenotype-among-homozygous-ivs-i-1-hbb-c-92-1g-a-patients-with-high-levels-of-hb-f
#8
Hussam Ghoti, Eitan Fibach, Eliezer A Rachmilewitz, Hisham Jeadi, Dvora Filon
β-Thalassemia (β-thal) is a very common disease in the Palestinian population of the Gaza Strip. We studied their mutation frequency and clinical features. Thirteen different mutations were identified. The most common mutation was IVS-I-1 (G>A) (HBB: c.92+1G>A), which was prevalent in 31.5% of the thalassemia alleles studied. The IVS-I-110 (G>A) (HBB: c.93-21G>A) mutation was found in 25.0% of the alleles. Homozygotes for the IVS-I-1 mutation had higher mean hemoglobin (Hb) levels, required less blood transfusions, and lower transferrin saturation than the homozygotes for the IVS-I-110 mutation...
March 2017: Hemoglobin
https://www.readbyqxmd.com/read/28670940/rare-%C3%AE-globin-gene-mutations-in-pakistan
#9
Ahsan Hussain, Suhaib Ahmed, Nadir Ali, Hamid S Mailk, Mariam Anees, Altaf H Chuahdry, Parvez Ahmed
The aim of this study was to analyze the rare β-thalassemia (β-thal) mutations in the Pakistani population. A total of 8716 unrelated Pakistani individuals having children with transfusion-dependent thalassemia were investigated by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) for the previously reported common and rare β-thal mutations. Genomic sequencing of the β-globin gene and its immediate 5' and 3' flanking regions was done where no known mutation was found. Out of the 8716 individuals studied, 88 (1...
March 2017: Hemoglobin
https://www.readbyqxmd.com/read/28641501/hematological-characterizations-and-molecular-diagnostic-aspects-of-hb-wiangpapao-%C3%AE-44-ce2-pro%C3%A2-ser-%C3%AE-1-ccg-tcg-hba1-c-133c-t-a-new-%C3%AE-globin-variant-found-in-a-pregnant-thai-woman
#10
Sitthichai Panyasai, Sakorn Pornprasert
We report the hematological parameters and provide a rapid molecular analysis method for detection of Hb Wiangpapao [α44(CE2)Pro→Ser, CCG>TCG; HBA1: c.133C>T], a new α-globin variant found in a pregnant Thai woman. Her red cell indices were measured by an automated blood counter. The results were: red blood cell (RBC) count 4.03 × 10(12)/L, Hb 13.1 (g/dL), packed cell volume (PCV) 0.39 L/L, mean corpuscular volume (MCV) 97.0 fL, mean corpuscular hemoglobin (Hb) (MCH) 32.5 pg, mean corpuscular Hb concentration (MCHC) 33...
March 2017: Hemoglobin
https://www.readbyqxmd.com/read/28635337/population-based-genetic-study-of-%C3%AE-thalassemia-mutations-in-mardan-division-khyber-pakhtunkhwa-province-pakistan
#11
Raj Muhammad, Muhammad Shakeel, Shoaib U Rehman, Muhammad A Lodhi
β-Thalassemia (β-thal) is the most prevalent hereditary blood disorder in Pakistan with a carrier rate of 5.0-8.0%. The homozygous affected children require frequent blood transfusions for their survival. This autosomal recessive disease can only be prevented through awareness programs, carrier screening, mutation detection, genetic counseling and prenatal diagnosis (PND). The present study aimed to determine the prevalence of various mutations causing β-thal and also to detect carriers of these mutations in families living in the Mardan Division, Khyber Pakhtunkhwa (KP) Province, Pakistan...
March 2017: Hemoglobin
https://www.readbyqxmd.com/read/28621168/detection-of-hb-rothschild-hbb-c-112t-a-or-112t-c-through-high-index-of-suspicion-on-abnormal-pulse-oximetry
#12
Nazeer A Alli, Piet Wessels, Narisha Rampersad, Barnaby E Clark, Swee Lay Thein
We describe a case with a low oxygen affinity hemoglobin (Hb) variant who presented with cyanosis in the absence of cardiopulmonary disease. The patient, a 27-year-old pregnant female (P1G2), complained of a productive cough and bluish discoloration of the lips that started 3 days prior to seeking attention. She had no previous episodes and has generally been in good health. A positive family history of cyanosis was obtained in one sibling. Systematic examination, notably the cardiorespiratory system, revealed no abnormalities...
March 2017: Hemoglobin
https://www.readbyqxmd.com/read/28617058/the-assessment-of-skin-color-and-iron-levels-in-pediatric-patients-with-%C3%AE-thalassemia-major-using-a-visual-skin-color-chart
#13
Ibrahim H Bucak, Habip Almis, Samet Benli, Mehmet Turgut
Patients with β-thalassemia major (β-TM), a disease that emerges due to disorder of hemoglobin (Hb) synthesis, require life-long erythrocyte transfusion. The purpose of this study was to evaluate skin color and iron levels of patients with β-TM using a visual skin color chart. Each patient's skin color was matched on a skin color chart under a fluorescent lamp by the same physician on each occasion. Iron, iron binding capacity, ferritin and complete blood count (CBC) were studied for each patient enrolled...
March 2017: Hemoglobin
https://www.readbyqxmd.com/read/28617057/preliminary-evaluation-of-a-point-of-care-testing-device-sicklescan%C3%A2-in-screening-for-sickle-cell-disease
#14
Maxwell M Nwegbu, Hezekiah A Isa, Biyaya B Nwankwo, Chinedu C Okeke, Uduak J Edet-Offong, Norah O Akinola, Adekunle D Adekile, John C Aneke, Emmanuel C Okocha, Thomas Ulasi, Usman Abjah, Ngozi I Ugwu, Angela A Okolo, Anazoeze Madu, Ifeoma Emodi, Ahmed Girei, Taiwo M Balogun, Ijeoma N Diaku-Akinwumi, Chinatu Ohiaeri, Biobele J Brown, John A Olaniyi, Abdulaziz Hassan, Sani Awwalu, Dorothy A Okoh, Obiageli E Nnodu
Sickle cell disease affects about 150,000 births annually in Nigeria. Early diagnosis is hampered by factors such as centralized and urban localization of laboratories, high cost of diagnostic equipment and inadequate skilled manpower to operate them. The need for a low-cost, portable, easy-to-use diagnostic test for sickle cell disease is critical, especially in resource-poor countries. In this study, we evaluated the performance characteristics of a novel point-of-care testing device (SickleSCAN™), and its acceptability and feasibility, as a possible screening tool for sickle cell disease...
March 2017: Hemoglobin
https://www.readbyqxmd.com/read/28597705/evaluation-of-applying-a-combination-of-red-cell-indexes-and-formulas-to-differentiate-%C3%AE-thalassemia-trait-from-iron-deficiency-anemia-in-the-thai-population
#15
Sakorn Pornprasert, Choosak Thongsat, Uraiporn Panyachadporn
Red cell indexes and formulas have been established as simple, fast, and inexpensive tools to differentiate β-thalassemia (β-thal) trait from iron deficiency anemia. However, none of them showed 100.0% sensitivity and specificity. Moreover, one index may show greater sensitivity and specificity in one population but is ineffective in another population. This study evaluated the diagnostic reliability of a combination of two red cell indexes [red blood cell (RBC) and red blood cell distribution width (RDW)] and nine formulas called '11T score' for differentiation of β-thal trait and iron deficiency anemia in the Thai population...
March 2017: Hemoglobin
https://www.readbyqxmd.com/read/28595507/design-validation-and-clinical-implementation-of-a-gap-polymerase-chain-reaction-method-for-%C3%AE-thalassemia-genotyping-using-capillary-electrophoresis
#16
Basma Basha, Frank Mularo, James R Cook
α-Thalassemia (α-thal) is genetically heterogeneous with most cases caused by variably sized deletions of the HBA1 and/or HBA2 loci. In this report, we describe the development, validation, and implementation of a novel gap-polymerase chain reaction (gap-PCR)/capillary electrophoresis (CE). METHOD: This assay utilizes two multiplex reactions and CE to detect the following deletions: -α(3.7) (rightward), -α(4.2) (leftward), -(α)(20.5), - -(SEA) (Southeast Asian), - -(MED), - -(FIL) and - -(THAI)...
March 2017: Hemoglobin
https://www.readbyqxmd.com/read/28592168/homozygous-mutation-on-the-%C3%AE-globin-polyadenylation-signal-in-a-tunisian-patient-with-%C3%AE-thalassemia-intermedia-and-coinheritance-of-gilbert-s-syndrome
#17
Faten Haddad, Nawel Trabelsi, Leila Chaouch, Imen Darragi, Meriem Oueslati, Imen Boudriga, Dorra Chaouachi, Wijdene El-Borgi, Raouf Hafsia, Salem Abbes, Houyem Ouragini
We report here the clinical, hematological and molecular data in a 50-year-old patient with β-thalassemia intermedia (β-TI) caused by a homozygous β(+) mutation on the β-globin gene polyadenylation (polyA) signal (AATAAA>AAAAAA). β Haplotype analysis was accomplished by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Haplotype and framework analysis showed that this mutation is associated with the [- - - - + + +] β haplotype and framework 1 (CCGCT) (FW1). This mutation was previously reported in the heterozygous state in association with the codon 9 (+TA) mutation in a β-TI patient originating from Tunisia...
March 2017: Hemoglobin
https://www.readbyqxmd.com/read/28589738/hemoglobin-variant-profiles-among-brazilian-quilombola-communities
#18
Rayra P Santiago, Rodrigo M Oliveira, Leonardo F Soares, Camylla V B Figueiredo, Denise Oliveira Silva, Ana F Hurtado-Guerrero, Luciana M Fiuza, Caroline C Guarda, Elisângela V Adorno, Cynara G Barbosa, Marilda S Gonçalves
Brazilian Quilombolas are communities composed of African-derived populations that have their territories guaranteed by the Brazilian Constitution. The present study investigated the hemoglobin (Hb) variants among these population groups. This study was conducted in a total of 2843 individuals of Brazilian Quilombola communities of the Bahia, Pará, and Piauí states. All the participants had their Hb profiles evaluated. The Hb S (HBB: c.20A>T) variant was described in all the studied localities. However, the individuals in Bahia State had the highest frequency of the Hb C (HBB: c...
March 2017: Hemoglobin
https://www.readbyqxmd.com/read/28580821/hb-southampton-%C3%AE-106-g8-leu%C3%A2-pro-hbb-c-320t-c-and-codons-41-42-ttct-hbb-c-124_127delttct-in-a-chinese-girl
#19
Jiaodi Liu, Yumei Huang, Yu Lei, Yongrong Lai
Hb Southampton [β106(G8)Leu→Pro; HBB: c.320T>C] is a rare, unstable hemoglobin (Hb), variant. The main clinical presentation of this variant is hemolytic anemia. We detected this mutation in a 2-year-old Chinese girl with a history of regular transfusions. To the best of our knowledge, this is the first time that this variant has been found in the Asian population.
March 2017: Hemoglobin
https://www.readbyqxmd.com/read/28532286/hb-bakersfield-hba1-c-151_152insggagcc-the-insertion-of-arg-his-between-codons-49-and-50-of-the-%C3%AE-1-globin-chain-leads-to-increased-oxygen-affinity
#20
REVIEW
Saskia Brunner-Agten, Thomas von Känel, Benno Röthlisberger, Charles Broquet, Andreas R Huber
We describe an insertion variant on the α1-globin gene (HBA1) identified in a 49-year-old woman of Jurassian ancestry presenting with macrocytosis and erythrocytosis. The variant resulted in a peak of 15.5% of the total hemoglobin (Hb) on high performance liquid chromatography (HPLC). Stability and oxygen affinity testing revealed that the variant was stable and had an increased oxygen affinity. Molecular genetic testing detected the heterozygous sequence variant Hb Bakersfield [α50(CE8)His→0; Arg-Ser-His- inserted between 49(CE7) and 51(CE9) of α1; HBA1: c...
January 2017: Hemoglobin
journal
journal
27094
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"