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Hemoglobin

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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
#1
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...
June 23, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28635337/population-based-genetic-study-of-%C3%AE-thalassemia-mutations-in-mardan-division-khyber-pakhtunkhwa-province-pakistan
#2
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...
June 21, 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
#3
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...
June 16, 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
#4
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...
June 15, 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
#5
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...
June 15, 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
#6
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...
June 9, 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
#7
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)...
June 9, 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
#8
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...
June 8, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28589738/hemoglobin-variant-profiles-among-brazilian-quilombola-communities
#9
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...
June 7, 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
#10
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.
June 5, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28475449/ivs-ii-648-649-t-hbb-c-316-202del-triggers-a-novel-%C3%AE-thalassemia-phenotype
#11
Azam Azimi, Reza Alibakhshi, Hasibeh Hayati, Soosan Tahmasebi, Sasan Alimoradi
Thalassemia is the most common inherited disorder in Iran. There are approximately 800 different genomic alterations of the β-globin gene described in the HbVar database. In this study, we identified a novel mutation in a 21-year-old woman [IVS-II-648/649 (-T); HBB: c.316-202del)] and describe its clinical implications. Two other members of this family, all with hematological and clinical features associated with β-thalassemia (β-thal), also carried this mutation. The molecular diagnosis of the β-globin gene mutation was performed by direct sequencing...
May 5, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28475397/complex-interaction-of-hb-q-thailand-with-%C3%AE-0-and-%C3%AE-0-thalassemia-in-a-chinese-family
#12
Sheng He, Qian Qin, Li Lin, Qiuli Chen, Shang Yi, Honhwei Wei, Juan Du, Chenguang Zheng, Xiaoxia Qiu, Biyan Chen
Hb Q-Thailand [α74(EF3)Asp→His (α1); HBA1: c.223 G>C] is an abnormal hemoglobin (Hb), variant found mainly in China and Southeast Asian countries. The association of the α(Q)-Thailand allele with other globin gene disorders has important implications in diagnosis. Here, we report a hitherto undescribed condition of patients with a double heterozygosity for Hb Q-Thailand with α(0)-thalassemia (α(0)-thal) and in combination with β(0)-thalassemia (β(0)-thal) in a Chinese family. Our study will provide some clinical manifestations, laboratory diagnosis and genetic counseling for complex hemoglobinopathies...
May 5, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28460555/a-novel-frameshift-mutation-at-codons-138-139-hbb-c-417_418inst-on-the-%C3%AE-globin-gene-leads-to-%C3%AE-thalassemia
#13
Fan Jiang, Lv-Yin Huang, Gui-Lan Chen, Jian-Ying Zhou, Xing-Mei Xie, Dong-Zhi Li
We describe a new β-thalassemic mutation in a Chinese subject. This allele develops by insertion of one nucleotide (+T) between codons 138 and 139 in the third exon of the β-globin gene. The mutation causes a frameshift that leads to a termination codon at codon 139. In the heterozygote, this allele has the phenotype of classical β-thalassemia (β-thal) minor.
May 1, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28440111/quality-of-life-outcomes-in-a-pediatric-thalassemia-population-in-egypt
#14
Soheir Adam, Hanan Afifi, Manal Thomas, Phoebe Magdy, Ghada El-Kamah
Thalassemia is a disorder of hemoglobin (Hb) synthesis characterized by chronic hemolysis. In β-thalassemias major (β-TM), patients require regular transfusion at an early age due to severe anemia. Subsequently, intensive chelation therapy is initiated to mitigate the effects of the resultant iron overload. Clinical disease burden and the demanding treatment can affect health-related quality of life (HRQoL) outcomes in this population. The aim of this study was to assess HRQoL outcomes in Egyptian pediatric thalassemia patients...
April 25, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28413893/the-hb-e-hbb-c-79g-a-mean-corpuscular-volume-mean-corpuscular-hemoglobin-cutoff-points-in-double-heterozygous-hb-e-sea-%C3%AE-thalassemia-1-carriers-are-dependent-on-hemoglobin-levels
#15
Prapapun Leckngam, Ektong Limweeraprajak, Tiemjan Kiewkarnkha, Thanusak Tatu
Identifying double heterozygosities in Hb E (HBB: c.79 G>A)/- -(SEA) (Southeast Asian) (α-thalassemia-1) (α-thal-1) in patients first diagnosed as carrying Hb E is important in thalassemia control. Low Hb E, mean corpuscular volume (MCV) and mean corpuscular hemoglobin (Hb) (MCH) levels have been observed in this double heterozygosity. However, the cutoff points of these parameters have never been systematically established. Here, we analyzed Hb E and red blood cell (RBC) parameters in 372 Hb E patients grouped by Hb levels, by the status of - -(SEA) and -α(3...
April 16, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28395547/a-novel-mutation-of-the-%C3%AE-2-globin-gene-causing-%C3%AE-thalassemia-hb-nanning-hba2-c-369_370delinsga
#16
Biyan Chen, Li Lin, Shang Yi, Qiuli Chen, Hongwei Wei, Guojian Li, Chenguang Zheng, Sheng He, XiaoXia Qiu
We report a novel mutation on the α2-globin gene, Hb Nanning (HBA2:c.369_370delinsGA) detected in a Chinese family. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant that was undetectable by various separation techniques. Both carriers of the mutation have mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) values that are below normal, as would be predicted for an α(+)-thalassemia (α(+)-thal) patient.
April 11, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28395541/hb-presbyterian-hbb-c-327c-g-in-a-nicaraguan-family
#17
Allan Pernudy-Ubau, Jaslyn Salinas-Molina, Yaneris Requenez, Marianela Ortiz-Lopez, Ann-Christin Puller, Kenia García-Rosales, Anaishelle Rodríguez-Estrada, Walter Rodríguez-Romero, Gerardo Mejía-Baltodano, Hong-Yuan Luo, David H K Chui
Hemoglobin (Hb) is the protein responsible for oxygen transportation. It is a tetrameric protein comprising two α- and two β-globin subunits. In the literature, a large number of mutations in the α- and β-globin genes have been documented. Among these mutations, Hb Presbyterian (HBB: c.327 C>G), is a naturally occurring mutant exerting low oxygen affinity. The C to G exchange (AAC>AAG) at codon 108 of the β-globin gene results in the substitution of asparagine by lysine. Here, we document the identification of HBB: c...
April 11, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28391758/the-frequency-of-hbb-mutations-among-%C3%AE-thalassemia-patients-in-hamadan-province-iran
#18
Masoumeh Jalilian, Farid Azizi Jalilian, Leila Ahmadi, Razieh Amini, Hossein Esfehani, Maryam Sosanian, Bahareh Rabbani, Majid Maleki, Nejat Mahdieh
β-Thalassemia (β-thal) caused by mutations on the HBB gene is the most common single-gene disorder in the world. In this study, the HBB gene mutation was investigated in Hamadan province, Iran. Forty-one patients referred to a referral hospital were admitted to the study. DNA samples were extracted from peripheral blood. The HBB gene was sequenced in all recruited patients. Eleven mutations and eight polymorphisms were found in the studied patients. IVS-II-1 (G>A) (HBB: c.315+1 G>A) was the most common mutation, accounting for 25...
April 10, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28391745/a-clinical-update-of-the-hb-siirt-%C3%AE-27-b9-ala%C3%A2-gly-hbb-c-83c-g-hemoglobin-variant
#19
Maria Pia Cappabianca, Alessia Colosimo, Annalaura Sabatucci, Enrico Dainese, Paola Di Biagio, Roberta Piscitelli, Ofelia Sarra, Daniela Zei, Antonio Amato
We report a clinical update of the hemoglobin (Hb) variant [β27(B9)Ala→Gly; HBB: c.83C>G], named Hb Siirt, that was previously described as a silent variant in a 23-year-old Kurdish female. The patient was also a carrier of the codon 5 (-CT) (HBB: c.17_18delCT) frameshift mutation and of the ααα (anti 3.7) triplication. Her initial moderate β-thalassemia intermedia (β-TI) phenotype worsened with time, causing the patient to become a transfusion-dependent subject at the age of ∼40 years. Subsequent molecular characterization of both parents revealed that the Hb Siirt variant was inherited by the mother, while the other two globin alterations (HBB: c...
April 10, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28385057/a-comprehensive-molecular-investigation-of-%C3%AE-thalassemia-in-an-iranian-cohort-from-different-provinces-of-north-iran
#20
Hajar Eftekhari, Ahmad Tamaddoni, Hassan Mahmoudi Nesheli, Mohsen Vakili, Sadegh Sedaghat, Ali Banihashemi, Mandana Azizi, Reza Youssefi Kamangar, Haleh Akhavan-Niaki
α-Thalassemia (α-thal) is the most common monogenic disease that is caused by the absence or reduced expression of α-globin genes. The aim of this study was to investigate common α-globin mutations and their associated haplotypes in four northern provinces of Iran (Gilan, Mazandaran, Golestan, Khorasan). One thousand, one hundred and ninety-one persons were tested for α-thal mutations by gap-polymerase chain reaction (PCR), reverse dot-blot hybridization, restriction fragment length polymorphism (RFLP) analysis and sequencing...
April 7, 2017: Hemoglobin
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