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Gift D Pule, Valentina J Ngo Bitoungui, Bernard Chetcha Chemegni, Andre P Kengne, Ambroise Wonkam
High level of Hb F has been shown to improve survival in sickle cell disease. Among 453 Cameroonians with sickle cell disease, we have investigated 18 selected single-nucleotide polymorphisms (SNPs) in novel and suggestive loci associated with Hb F level identified through a genomewide association study in sickle cell disease patients in Tanzania, and whole-genome sequencing of a population from Sardinia. Seven of 10 variants reported in Sardinians were either monomorphic or very rare in the Cameroonians. No associations were observed with any SNPs and Hb F levels in Cameroonians affected by sickle cell disease...
November 10, 2016: Hemoglobin
Lin Zhao, Jilin Qing, Yue Liang, Zhizhong Chen
β-Thalassemia (β-thal) is a common hereditary anemia due to decreased or absent synthesis of the β-globin chains. Here, we report a patient found to be a novel compound heterozygote for the rare IVS-II-5 (G > C) (NG_000007.3: g.71044G > C) and IVS-II-672 (A > C) (NG_000007.3: g.71711A > C) mutations, which may be silent mutations that are associated with consistent residual output of β chains, normal red blood cell (RBC) indices and normal or borderline Hb A2 levels.
November 10, 2016: Hemoglobin
Awatef Mejri, Marwa Mansri, Sondess Hadj Fredj, Faida Ouali, Amina Bibi, Raouf Hafsia, Taieb Messaoud, Hajer Siala
The C/EBPE gene, located in 14q11.2, encodes for a B/zip-type transcription factor. The C/EBPɛ is involved in terminal differentiation and functional maturity of granulocyte progenitor cells and in cell apoptosis during myeloid differentiation. A C/EBPE gene has recently been described as a candidate gene involved in clinical variability of β-thalassemia (β-thal). In this study, the C/EBPE gene was sequenced in 146 subjects divided into the severe type of β-thal major (β-TM) and moderate type of β-thal intermedia (β-TI), and a control group...
November 9, 2016: Hemoglobin
Nelson C N Chan, Kin-Mang Lau, Kelvin C K Cheng, Natalie P H Chan, Margaret H L Ng
Genetic association studies showed that Hb F is under the influence of major quantitative trait loci (QTL) in β-thalassemia (β-thal) carriers. Single nucleotide polymorphisms (SNPs) at three major QTLs, BCL11A, HBS1L-MYB intergenic region and XmnI-HBG2, were individually validated in univariate models. However, their relative effect sizes on Hb F regulation are unknown. We genotyped 99 Chinese β-thal carriers for the three major QTLs and performed genetic association studies using three different statistical models, including mass univariate analysis, multivariate linear regression and partial least square regression structural equation modeling (PLS-SEM)...
October 5, 2016: Hemoglobin
Dana R Jorgensen, Caterina Rosano, Enrico M Novelli
Adults with homozygous sickle cell anemia have, on average, lower cognitive function than unaffected controls. The mechanisms underlying cognitive deterioration in this population are poorly understood, but cerebral small vessel disease (CSVD) is likely to be implicated. We conducted a systematic review using the Prisma Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines of articles that included both measures of cognitive function and magnetic resonance imaging (MRI) neuroimaging markers of small vessel disease...
September 30, 2016: Hemoglobin
Patrick G Gallagher, Yelena Maksimova, Vincent P Schulz, Bernard G Forget
We present a patient with a compound heterozygosity codon 39 (C > T) (β(0)) [or β39(C5)Gln→Stop (G39X); CAG > TAG; HBB: c.118C > T] and -87 (C > T) (β(+)) (HBB: c.-137C > T) β-globin mutations, a non transfusion-dependent thalassemia phenotype and 97.0% fetal hemoglobin. A novel heterozygous mutation was identified in a highly conserved residue in the COOH-terminus of the Krüppel-like factor 1, R360H, that likely altered DNA-binding and impaired transactivation.
September 2016: Hemoglobin
John S Waye, Barry Eng, Meredith Hanna, Betty-Ann Hohenadel, Lisa Nakamura, Lynda Walker
We report two Italian-Canadian families with α(+)-thalassemia (α(+)-thal) trait caused by a novel mutation of the translation initiation codon of the α1-globin gene (ATG>AAG or HBA1:c.2T>A). This is the tenth reported α-thal mutation involving the translation initiation codon or the conserved Kozak consensus sequences of the HBA2 or HBA1 genes.
September 2016: Hemoglobin
Yen-Chian Lim, Karen M L Tan, Samuel S Chong, Joseph Rajendran, Venkatasreekanth Sampath
We describe the clinical presentation and laboratory findings of a Malay man with β-thalassemia intermedia (β-TI), secondary to homozygosity for a polyadenylation (polyA) signal mutation (AATAAA > AATAGA) (HBB: c.*112A > G) on the β-globin gene, and give a brief review of the literature. This is the first report of a homozygous case of this polyA mutation, and highlights the importance of molecular analysis of the globin genes in the diagnosis of thalassemia.
September 2016: Hemoglobin
Amrita Panja, Prosanto Chowdhury, Anupam Basu
We describe a novel C>T substitution at codon 53 of the HBB gene (HBB: c.161C>T). The proband was a transfusion-dependent β-thalassemia major (β-TM) patient. DNA was extracted and subsequently, DNA sequencing was done to detect the mutations on the HBB gene. Capillary zone electrophoresis (CZE) revealed the presence of an unknown peak. She inherited this mutation from her grandmother through her mother. This mutation exists in cis with the common β(0) mutation IVS-I-5 (G>C) (HBB: c.92+5G>C). The proband is homozygous for HBB: c...
September 2016: Hemoglobin
Sima M Derakhshan, Mahmoud S Khaniani, Fateme Afkhami, Abbasali H PourFeizi
The aim of this study was to determine the molecular spectrum and frequency of deletional and nondeletional α-thalassemia (α-thal) mutations and the genotype-phenotype correlation in common mutations in the Azeri population of Northwestern Iran. A total of 1256 potential carriers with microcytic and hypochromic anemia and normal Hb A2 levels (<3.5%) and without iron deficiency anemia plus three fetuses were identified. Multiplex gap-polymerase chain reaction (gap-PCR) and sequencing for α-thal mutations were carried out...
September 2016: Hemoglobin
Harriët M Loovers, Nienke Tamminga, André B Mulder, Rienk Y J Tamminga
Case reports on the effect of hydroxyurea (HU) therapy for unstable hemoglobins (Hbs) are sparse; only three adult cases have been reported. We report for the first time on the effect of HU therapy in children carrying unstable Hbs. The first case concerns a female child with a familial history of chronic hemolytic anemia. She was diagnosed with Hb Volga (HBB: c.83C>A) at the age of 7 months. At age 6, treatment options were reconsidered due to increasing fatigue and decreasing Hb concentration. The second case also concerns a female child with chronic hemolytic anemia and icterus since the age of 5...
September 2016: Hemoglobin
Xin Yang, Jin-Mei Yan, Jian Li, Xing-Mei Xie, Jian-Ying Zhou, Yan Li, Dong-Zhi Li
Hb Zurich-Albisrieden [HBA2: c.178G > C; α59(E8)Gly→Arg (α2)] is a rare nondeletional α-thalassemia (α-thal) that results from a nucleotide substitution at codon 59 of the α2-globin gene. In this report, we present a fetus with cardiomegaly, enlarged placenta and increased middle cerebral artery-peak systolic velocity (MCA-PSV) at 25 weeks' gestation. Fetal blood sampling revealed the severe anemia [hemoglobin (Hb) level being 5.5 g/dL] and Hb H (β4) disease-like hematological findings with Hb Bart's (γ4) level of 30...
September 2016: Hemoglobin
Dianne Pulte, Paris B Lovett, David Axelrod, Albert Crawford, John McAna, Rhea Powell
Sickle cell disease is characterized by intermittent painful crises often requiring treatment in the emergency department (ED). Past examinations of time-to-provider (TTP) in the ED for patients with sickle cell disease demonstrated that these patients may have longer TTP than other patients. Here, we examine TTP for patients presenting for emergency care at a single institution, comparing patients with sickle cell disease to both the general population and to those with other painful conditions, with examination of both institutional and patient factors that might affect wait times...
September 2016: Hemoglobin
Sri L H Yeruva, Yonette Paul, Patricia Oneal, Mehdi Nouraie
Renal dysfunction in sickle cell disease is not only a chronic comorbidity but also a mortality risk factor. Though renal dysfunction starts early in life in sickle cell patients, the predictors that can identify sickle cell disease patients at risk of developing renal dysfunction is not known. We used the Truven Health MarketScan(®) Medicaid Databases from 2007 to 2012. Incidence of new acute renal failure (ARF) and chronic kidney disease (CKD) was calculated in this cohort. There were 9481 patients with a diagnosis of sickle cell disease accounting for 64,201 hospital admissions, during the study period...
September 2016: Hemoglobin
Cornelis L Harteveld, Serge Pissard, Anna M H Korver, Jean Riou, Eric Legac, Gideon Lansbergen, Inge L Pardijs, Piero C Giordano, Florens G A Versteegh
We report two families, members of which are carriers of a novel hemoglobin (Hb) variant that was named Hb Olivet [α13(A11)Ala→Thr (α1) (GCC > ACC); HBA1: c.40G > A; p.Ala14Thr]. The analysis of these cases allowed a clear description of this anomaly that behaves as a silent Hb. In the first family, of Portuguese ethnicity living in France, the proband, a 24-year-old male and his 57-year-old mother, both appeared to be carriers. The son presented with borderline mean corpuscular volume (MCV), while the mother was normocytic and normochromic...
September 2016: Hemoglobin
Mai Kelany, John S Pickersgill, Namir Al Hasso, Adie Viljoen, Nancy van Bijlen, Martin W Besser
We present a case of a novel pathogenic variant, Hb Kalavasos [α91(FG3)Leu→His (α2); HBA2: c.275T > A; p.Leu92His (NM_000517.4)]; this codon was previously numbered 91 on the α2-globin gene that was discovered following routine Hb A1c testing on a 65-year-old female of Cypriot origin. The band, seen by high performance liquid chromatography (HPLC) but not capillary zone electrophoresis (CZE), was confirmed as a hitherto undescribed a chain variant, that we have named Hb Kalavasos for the Cypriot village of family origin of the proband...
September 2016: Hemoglobin
Khushnooma Italia, Pooja Dabke, Pratibha Sawant, Anita Nadkarni, Kanjaksha Ghosh, Roshan B Colah
Hb E [β26(B8)Glu→Lys; HBB: c.79G > A]-β-thalassemia (β-thal) has an extremely variable clinical presentation. We report the clinical features of these patients from five Indian states together with their hematological and molecular characteristics. Seventy-eight Hb E-β-thal patients from different regions [West Bengal (30), Maharashtra (21), Uttar Pradesh (13), Bihar (11), Orissa (3)] were clinically evaluated along with hematological profiles and molecular characteristics (β-thal mutations, XmnI polymorphisms, α genotypes)...
September 2016: Hemoglobin
Zhong-Ying Ding, Guo-Song Shen, Su Zhang, Ping-Ya He
The aim of the present study was to report the frequency of thalassemia traits and other hemoglobinopathies in Huzhou City, Zhejiang Province, People's Republic of China (PRC), and for the future management of hemoglobinopathies. A total of 8578 pregnant women in the Huzhou region was analyzed for thalassemia traits and other hemoglobinopathies from July 1 2012 to November 30 2015. Complete blood count (CBC), and hemoglobin (Hb) variant analyses were performed with automatic counters and capillary electrophoresis (CE)...
September 2016: Hemoglobin
Richard Ward, Karim M Taha
Our aim was to develop and assess the feasibility of an education tool to improve health outcomes of patients with thalassemia. Thirty-five patients attending a Canadian thalassemia clinic were enrolled. Acting in an expert role, they participated in a Delphi method to reach consensus as to what tools and information should be incorporated in the development of a self management Smartphone app. One- and 6-month usability and health impact feedback surveys were built-in. Sixty percent of responders were 18-34 years old, over 50...
September 2016: Hemoglobin
Tahereh Zarei, Javad Dehbozorgian, Jaber Imanifard, Fatemehsadat Setoodegan, Mehran Karimi
Thalassemias are a group of inherited hematological disorders caused by defects in the synthesis of one or more of the hemoglobin (Hb) chains. The β- and α-thalassemias are widespread throughout the Mediterranean region, the Middle East, and Southeast Asia including Iran. In this study, we report five patients known to carry a coinheritance of Hb H (β4) disease and β-thalassemia (β-thal) minor. There is a high prevalence of consanguineous marriages in our population and the high rate of thalassemia determinants can cause coinheritance of α- and β-thal...
September 2016: Hemoglobin
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