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Hemoglobin

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https://www.readbyqxmd.com/read/30025477/compound-heterozygosity-for-hb-adana-hba2-c-179g-a-and-the-%C3%AE-3-7-%C3%AE-%C3%AE-thalassemia-deletion-in-greece-clinical-phenotype-and-genetic-counseling
#1
Stamatia Theodoridou, Aikaterini Teli, Eleni Yfanti, Timoleon-Achilleas Vyzantiadis, Theodoros Theodoridis, Marina Economou
Hb Adana (HBA2: c.179G>A) is found worldwide but is extremely rare and carriers are asymptomatic, with red cell indices similar to α+ -thalassemia (α+ -thal) carriers. First line screening tests are unable to detect the unstable hemoglobin (Hb). Coinheritance with the α-thal (-α3.7 ) deletion is herein presented and the challenges involving genetic counseling of couples carrying the mutations are discussed.
July 20, 2018: Hemoglobin
https://www.readbyqxmd.com/read/29893155/first-report-of-%C3%AE-thalassemia-intermedia-in-a-patient-compound-heterozygous-for-92-c-t-and-codons-36-37-t-mutations
#2
Gunay Aliyeva, Eldar Abdulalimov, Chingiz Asadov, Tahira Mammadova, Surmaya Gafarova, Yegana Guliyeva
The -92 (C>T) (HBB: c.-142C>T) is a silent β-thalassemia (β-thal) mutation previously described in combination with several β0 mutations and expressed as β-thal intermedia (β-TI). Heterozygous individuals are known to be completely asymptomatic showing borderline hemoglobin (Hb), mean corpuscular volume (MCV) and Hb A2 levels. Here, we report the first incidence of -92 in Eastern Europe and in Azerbaijan, and the first case in combination with codons 36/37 (-T) (HBB: c.112delT) mutation.
June 12, 2018: Hemoglobin
https://www.readbyqxmd.com/read/29745276/prevalence-and-characteristics-of-priapism-in-sickle-cell-disease
#3
Giovanna A O Arduini, Alessandra B Trovó de Marqui
Priapism is a pathological condition of persistent penile erection in the absence of sexual arousal or desire. It is an urological emergency and its identification is important as lack of prompt treatment can result in erectile dysfunction. The aim of this study was to estimate and describe the characteristics (number of episodes, duration, time of occurrence and evolution) of priapism in patients with sickle cell disease. A bibliographical research was carried out in PubMed, searching for papers published in the last 5 years...
May 10, 2018: Hemoglobin
https://www.readbyqxmd.com/read/29745274/relationship-of-the-interaction-between-two-quantitative-trait-loci-with-%C3%AE-globin-expression-in-%C3%AE-thalassemia-intermedia-patients
#4
Shiva NickAria, Sezaneh Haghpanah, Mani Ramzi, Mehran Karimi
Globin switching is a significant factor on blood hemoglobin (Hb) level but its molecular mechanisms have not yet been identified, however, several quantitative trait loci (QTL) and polymorphisms involved regions on chromosomes 2p, 6q, 8q and X account for variation in the γ-globin expression level. We studied the effect of interaction between a region on intron six of the TOX gene, chromosome 8q (chr8q) and XmnI locus on the γ-globin promoter, chr11p on γ-globin expression in 150 β-thalassemia intermedia (β-TI) patients, evaluated by statistical interaction analysis...
May 10, 2018: Hemoglobin
https://www.readbyqxmd.com/read/29745271/fetal-hemoglobin-in-the-maternal-circulation-contribution-of-fetal-red-blood-cells
#5
Mutaz Dana, Eitan Fibach
The major hemoglobin (Hb) during fetal life is fetal Hb (Hb F). It is mostly replaced by adult Hbs before birth and during the first year of life. In adults, where Hb F comprises <2.0% of the total Hb, it is not homogenously distributed among the red blood cells (RBCs) but is concentrated in a few RBCs, termed F-cells. Interestingly, for reasons that are unclear, Hb F increases in the maternal circulation during pregnancy. This increased Hb F could have two potential origins that are not mutually exclusive: A) maternal origin, due to inducing environment of Hb F in the maternal erythroid precursors; B) fetal origin, due to fetal cells crossing the placenta and entering the maternal circulation...
May 10, 2018: Hemoglobin
https://www.readbyqxmd.com/read/29737888/%C3%AE-thalassemia-with-complete-absence-of-hb-a-2-in-a-chinese-family
#6
Hai-Shen Tang, De-Gang Wang, Lv-Yin Huang, Dong-Zhi Li
A Chinese family with δ-thalassemia (δ-thal) was found, in which the daughter is homozygous for δ-thal (HBD: c.-127T>C) with complete deficiency of Hb A2 and the mother is a heterozygote with low level of Hb A2 . The father, however, is a heterozygote with a normal Hb A2 value due to coinheritance of a β-thalassemia (β-thal). Although no abnormal clinical or hematological findings were noted in the individuals with δ-thal, one should keep in mind that β-thal can be missed during routine preliminary screening when β-thal and δ-thal coexist in a subject...
May 8, 2018: Hemoglobin
https://www.readbyqxmd.com/read/29722583/molecular-and-hematological-characterization-of-two-novel-%C3%AE-globin-gene-mutations-found-in-chinese-individuals
#7
Manna Sun, Jiwu Lou, Ying Zhao, Yanhui Liu
We identified two novel δ-globin gene mutations in two families during routine thalassemia screening. One missense mutation at codon 73 on the δ-globin gene [δ73(E17)Asp→Val, HBD: c.221A>T] which results in a Hb A2 variant homologous to the β-globin gene variant called Hb Mobile [β73(E17)Asp→Val, HBB: c.221A>T] and we have named this variant Hb A2 -Henan. The other is a nonsense mutation [δ7(A4)Glu→Stop, HBD: c.22G>T] which gives rise to a stop codon (TAG) at codon 7, resulting in δ0 -thalassemia (δ0 -thal)...
May 3, 2018: Hemoglobin
https://www.readbyqxmd.com/read/29651865/compound-heterozygosity-for-hb-alperton-hbb-c-407c-t-and-ivs-i-5-g-c-hbb-c-92-5g-c-mutations-presenting-as-a-moderate-anemia-in-an-indian-family
#8
Koumudi G Godbole, Angelina Ramachandran, Ashwini S Karkamkar, Ashwin B Dalal
While knowledge of HBB gene mutations is necessary for offering prenatal diagnosis (PND) of β-thalassemia (β-thal), a genotype-phenotype correlation may not always be available for rare variants. We present for the first time, genotype-phenotype correlation for a compound heterozygous status with IVS-I-5 (G>C) (HBB: c.92+5G>C) and HBB: c.407C>T (Hb Alperton) mutations on the HBB gene in an Indian family. Hb Alperton is a very rare hemoglobin (Hb) variant with scant published information about its clinical presentation, especially when accompanied with another HBB gene mutation...
April 13, 2018: Hemoglobin
https://www.readbyqxmd.com/read/29633668/left-ventricular-diastolic-dysfunction-in-%C3%AE-thalassemia-major-with-heart-failure
#9
Luigi Mancuso, Angela Vitrano, Andrea Mancuso, Massimiliano Sacco, Antonietta Ledda, Aurelio Maggio
We studied the clinical, electrocardiographic, echocardiographic, Doppler and T2* cardiac magnetic resonance (CMR) data of all adult β-thalassemia major (β-TM) patients with heart failure (HF) consecutively observed at our referral center of the Sicilian region between 2008 and 2016. There were 16 patients enrolled in the study. Echocardiographic examination showed that only one patient had HF with systolic dysfunction of the left ventricle (HFrEF), whereas the others had HF with preserved systolic function of the left ventricle (HFpEF)...
January 2018: Hemoglobin
https://www.readbyqxmd.com/read/29633667/successful-use-of-veno-venous-extracorporeal-membrane-oxygenation-in-an-adult-patient-with-sickle-cell-anemia-and-severe-acute-chest-syndrome
#10
Sarah S Sewaralthahab, Jay Menaker, Jennie Y Law
A 25-year-old female with sickle cell anemia presented with respiratory failure due to acute chest syndrome (ACS). Given her severely compromised cardiopulmonary status, she was started on veno-venous extracorporeal membrane oxygenation (VV-ECMO). After 20 days, the patient's respiratory status improved and she was successfully decannulated. Veno-venous extracorporeal membrane oxygenation can be utilized for severe ACS in adult patients with sickle cell disease. Prompt initiation of this modality may improve outcomes in adult patients with sickle cell disease complicated by life threatening ACS...
January 2018: Hemoglobin
https://www.readbyqxmd.com/read/29564956/hb-moscva-%C3%AE-24-b6-gly%C3%A2-asp-ggt-gat-hbb-c-74g-a-an-unstable-hemoglobin-newly-detected-as-a-de-novo-mutation-in-a-mauritanian-patient
#11
Sidi M Ghaber, Nawel Trabelsi, Mohamed L Salem, Faten Haddad, Aminetou Abba, Imen Darragi, Salem Abbes
Unstable hemoglobins (Hbs) are a group of Hb disorders that could be the origin of chronic hemolytic anemia. Most of these disorders are caused by point mutations taking place in the globin genes and affecting the stability of the Hb molecule. They are inherited as autosomal dominant diseases and described worldwide. Herein we report a new observation of an unstable variant in the Mauritanian population. The patient was a young girl of Mauritanian origin. She presented with chronic hemolytic anemia with an unknown etiology after being referred to several medical centers...
January 2018: Hemoglobin
https://www.readbyqxmd.com/read/29521137/psychological-factors-associated-with-episodic-chelation-adherence-in-thalassemia
#12
Jane Vosper, Michael Evangeli, John B Porter, Farrukh Shah
β-Thalassemia major (β-TM) is a life-long genetic hemoglobin (Hb) disorder requiring intensive treatment regimens, including frequent blood transfusions and daily chelation therapy. Understanding psychosocial correlates of chelation adherence is important for developing interventions to improve adherence. This study investigated within-participant correlates of oral chelation adherence on a daily (episodic) basis. Thirty-seven adult participants with β-TM were recruited from clinics at two hospitals (22 males, 9 females, mean age 34...
January 2018: Hemoglobin
https://www.readbyqxmd.com/read/29513125/a-coincidental-discovery-of-a-new-stable-variant-hb-hachioji-or-hbb-c-187c-t-in-a-patient-with-chronic-hemolytic-anemia-of-unexplained-origin
#13
Ferania Mella, Yasuhiro Yamashiro, Chris Adhiyanto, Tatehiko Tanaka, Takenori Nitta, Yuki Amao, Masafumi Kimoto
We report a new hemoglobin (Hb) variant, Hb Hachioji (HBB: c.187C>T), which was detected in a 32-year-old male with hemolytic anemia. The proband had undergone splenectomy in his childhood after being diagnosed with hereditary spherocytosis (HS) with no clinical improvement. A recent study showed that Heinz bodies were frequently observed in his red cells, however, no abnormal band was separated by isoelectric focusing (IEF), and the isopropanol (instability) test was negative. Direct sequencing revealed that the proband was a heterozygous carrier of a novel mutation (GCT>GTT) at codon 62 of the β-globin gene, leading to an alanine to valine substitution...
January 2018: Hemoglobin
https://www.readbyqxmd.com/read/29493331/characterization-of-hb-bart-s-hydrops-fetalis-caused-by-sea-and-a-large-novel-%C3%AE-0-thalassemia-deletion
#14
Sheng He, Jihui Li, Peng Huang, Shujie Zhang, Li Lin, Yangjin Zuo, Xiaoxian Tian, Chenguang Zheng, Xiaoxia Qiu, Biyan Chen
Hb Bart's hydrops fetalis is the most severe and generally fatal clinical phenotype of α-thalassemia (α-thal), which is due to the deletion of all four functional α-globin genes of hemoglobin (Hb), resulting in no α-globin chain production (- -/- -). Homozygosity for the - -SEA (Southeast Asian) α-globin gene deletion is the main cause of the Hb Bart's hydrops fetalis in Asia, especially South China. Occasionally, other α0 -thal deletions can also be found. In this study, we report a case with an atypical form of Hb Bart's hydrops fetalis that was caused by - -SEA and a large novel α0 -thal deletion (- -GX ) (Guangxi)...
January 2018: Hemoglobin
https://www.readbyqxmd.com/read/29493329/analysis-of-common-%C3%AE-thalassemia-mutations-in-north-vietnam
#15
Lan Thi Thuong Vo, Trang Thu Nguyen, Hai Xuan Le, Ha Thi Thu Le
Available and flexible choice of methods for screening and detecting β-thalassemia (β-thal) can promote control of thalassemia in developing countries. In this study, two methods, the amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and reverse dot-blot hybridization assays were developed to detect common β-thal mutations in 244 thalassemia patients and 152 healthy people in North Vietnam. The most common mutation was codon 26 (G>A), also known as Hb E (HBB: c.79G>A), accounting for 26...
January 2018: Hemoglobin
https://www.readbyqxmd.com/read/29493312/hepatocellular-carcinoma-in-a-%C3%AE-thalassemia-intermedia-patient-yet-another-case-in-the-expanding-epidemic
#16
Hassan M Moukhadder, Joseph E Roumi, Rayan Bou-Fakhredin, Ali T Taher
The incidence of hepatocellular carcinoma (HCC) in patients with thalassemia is increasing, the two well recognized HCC risk factors in thalassemia being iron overload and chronic hepatitis C. The carcinogenicity of iron is related to its induction of oxidative damage, whereas chronic hepatitis leads to necroinflammation that can accelerate progression to HCC. We hereby report the case of a non transfused, hepatitis C-negative, β-thalassemia intermedia (β-TI) patient from our practice who had evidence of significant iron overload, suggesting the importance of increased iron burden as a HCC risk factor in this patient population...
January 2018: Hemoglobin
https://www.readbyqxmd.com/read/29493303/genetic-polymorphisms-of-glucose-6-phosphate-dehydrogenase-in-lagos-nigeria
#17
Musa O Babalola, Ngozi A Imaga, Titilola A Samuel, Iyanu P Diriwari, Olajumoke Kolade, Irene Ezeamalu, Adefioye O Laoye, Oyesola O Ojewunmi
Glucose-6-phosphate dehydrogenase (G6PD) is an essential enzyme in the pentose phosphate pathway that prevents oxidative damage to cells. This study determined the genotypic and allelic frequencies of G6PD G202A and A376G and also investigated correlation between G6PD polymorphisms and hemoglobin (Hb) phenotypes in children in Lagos, Nigeria. Seventy-eight children [55 with Hb AA (βΑ /βA ) and 23 with Hb AS (βΑ /βS ) trait] and 65 Hb SS (βS /βS ) (HBB: c.20A>T) subjects in steady state with age range between 5-15 years were recruited for the study...
January 2018: Hemoglobin
https://www.readbyqxmd.com/read/29484903/complex-interaction-of-hb-q-thailand-hba1-c-223g-c-with-%C3%AE-thalassemia-hb-e-hbb-c-79g-a-disease
#18
Sitthichai Panyasai, Surada Satthakarn, Sakorn Pornprasert
Hb Q-Thailand [α74(EF3)Asp→His (α1), GAC>CAC, HBA1: c.223G>C] is an abnormal hemoglobin (Hb) frequently found in Thailand and Southeast Asian countries. The association of the αQ-Thailand allele with other globin gene disorders has important implications in diagnosis. Here, we report how to diagnose the coinheritance of Hb Q-Thailand with β-thalassemia (β-thal)/Hb E disease in four Thai samples from high performance liquid chromatography (HPLC) and capillary electrophoresis (CE) testing results...
January 2018: Hemoglobin
https://www.readbyqxmd.com/read/29464999/molecular-characteristics-of-hb-new-york-%C3%AE-113-g15-val%C3%A2-glu-hbb-c-341t-a-in-thailand
#19
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...
January 2018: Hemoglobin
https://www.readbyqxmd.com/read/29457528/quantitative-trait-loci-influencing-hb-f-levels-in-southern-thai-hb-e-hbb-c-79g-a-heterozygotes
#20
Aumpika Kesornsit, Nutjaree Jeenduang, Dararat Horpet, Thunyaluk Plyduang, Manit Nuinoon
Variation of fetal hemoglobin (Hb F) expression in heterozygous Hb E (HBB: c.79G>A) individuals is associated with several genetic modifiers and not well understood. This study was undertaken in order to determine the effect of single nucleotide polymorphisms (SNPs), including XmnI G γ (rs7482144), rs766432 on the BCL11A gene and rs9376074 on the HBS1L gene, on Hb F levels in Southern Thai heterozygous Hb E individuals. A total of 97 Southern Thai subjects carrying heterozygous Hb E were selected for the hematological study...
January 2018: Hemoglobin
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