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Graham R Serjeant, Beryl E Serjeant, Ian R Hambleton, Matthew Oakley, Swee Lay Thein, Barnaby Clark
The gene for hereditary persistence of fetal hemoglobin (HPFH) in the Caribbean is much more common than previously estimated. To avoid labeling persons with the benign syndrome Hb S (HBB: c.20A>T)/HPFH as a disease and wasting scarce resources, parental studies are recommended when newborn screening reveals a pattern consistent with an SS phenotype.
September 5, 2017: Hemoglobin
Filippo Cassarà, Margherita Vinciguerra, Monica Cannata, Giorgio Marchese, Cristina Passarello, Filippo Leto, Aurelio Maggio, Antonino Giambona
HBD: c.442T > C is a new mutation at the stop codon (TGA>CGA) of the δ-globin gene, which produces a new codon for arginine. This substitution causes a 51 nucleotides longer open reading frame determining the synthesis of a potential larger δ subunit, which is a probable target of mechanisms for the degradation of aberrant proteins as well as the defective synthesized mRNA molecules, and may also be rapidly degraded by a variety of RNA surveillance pathways. We identified this molecular defect in four patients: three women with a reduced Hb A2 level and a 37-year-old male showing the typical phenotype of an α-thalassemia (α-thal) carrier with reduced values of red cell indices and normal Hb A2 level (2...
August 25, 2017: Hemoglobin
Qiang Zhang, Mingli Xu, Wanjun Zhou, Xin Fan
A novel 811 bp deletion was first identified in two families of Nanning City, Guangxi Zhuang Autonomous Region, People's Republic of China (PRC). The molecular basis of this anomaly is a deletion from NG_000006.1: g.32945_33755, and is 20 bp upstream of the translation initiation codon of HBA2. From analyses of the blood indices of the two probands, the 811 bp deletion is an α(+)-thalassemia (α(+)-thal). This is the first report of this deletional thalassemia any where in the world.
August 25, 2017: Hemoglobin
John S Waye, Barry Eng, Meredith Hanna, Betty-Ann Hohenadel, Lisa Nakamura, Lynda Walker
We report an α(0)-thalassemia (α(0)-thal) trait in Newfoundlanders caused by a novel 90.7 kb deletion. The deletion, designated the Newfoundland deletion (- -(NFLD)), removes both the HBA2 and HBA1 genes, while leaving the HBZ gene intact. The 5' deletion endpoint is within the HBAP1 pseudogene, approximately 3.7 kb upstream of the HBA2 gene. The 3' deletion endpoint is approximately 82.5 kb downstream of the HBA1 gene, within the second intervening sequence (IVS-II) of the FAM234A gene. This is the second α(0)-thal deletion reported in Newfoundland families of northern European descent...
August 25, 2017: Hemoglobin
Kamal A Kadhim, Kadhim H Baldawi, Faris H Lami
Globally, thalassemia is the most common hereditary hemoglobinopathy, and occurs in 4.4/10,000 live births. In the developing world, the majority of patients die before the age of 20 years. In Iraq, there is little data on the epidemiology and burden of thalassemia. The objectives of this study were to determine the prevalence, incidence, trend, and complications of thalassemia patients in Iraq. All thalassemia patients registered in the accessible 16 (of the 19) thalassemia centers in Iraq until December 31 2015, were included...
August 24, 2017: Hemoglobin
Jin-Mei Yan, Dong-Zhi Li
Induced pluripotent stem cells (iPSCs) derived from diseased patients behave as a powerful tool for biomedical research and may provide a source for replacement therapies. In this study, we generated iPSCs from amniotic fluid cells of a fetus with Hb Bart's (γ4) disease (- -/- -). The established iPSCs showed pluripotency similar to that of human embryonic stem cells. They were able to differentiate into various somatic cell types and maintained normal karyotypes after long periods of culture in vitro. The patient-specific iPSCs offer a valuable model for advancing α-thalassemia (α-thal) research and early treatment of the affected fetuses...
August 24, 2017: Hemoglobin
Manit Nuinoon, Nutjaree Jeenduang, Aumpika Kesornsit, Dararat Horpet, Thunyaluk Plyduang
We report here the hematological and molecular features of a novel δ-globin chain variant found in a Southern Thai woman. Her complete blood count was as follows: red blood cell (RBC) count 5.90 × 10(12)/L, hemoglobin concentration (Hb) 12.6 g/dL, packed cell volume (PCV) 0.41 L/L, mean corpuscular volume (MCV) 69.5 fL, mean corpuscular Hb (MCH) 21.4 pg, mean corpuscular Hb concentration (MCHC) 30.7 g/dL and RBC distribution width (RDW) 13.1%. The blood smear demonstrated microcytic hypochromic RBCs suggestive of thalassemia trait...
August 10, 2017: Hemoglobin
Shir-Ying Lee, Jia-Hui Goh, Karen M L Tan, Te-Chih Liu
Hb Helsinki [HBB: c.248A>T; β82(EF6)Lys→Met] is a high oxygen affinity hemoglobin (Hb) causing polycythemia, whereas Hb H (β4) disease causes mild to severe chronic hemolytic anemia. The clinical characteristics, gel electrophoresis, capillary electrophoresis (CE) and molecular genotyping of a case of Hb Helsinki coinherited with Hb H disease in an ethnic Malay is described, illustrating the interaction between the β-globin variant and coinheritance of three α gene deletions. The proband was asymptomatic, exhibited microcytosis and a normal with Hb value...
August 9, 2017: Hemoglobin
Víctor M Rentería-López, Francisco J Perea-Díaz, Lourdes C Rizo-delaTorre, Josefina Y Sánchez-López, Bertha Ibarra-Cortés
α-Thalassemia (α-thal), a genetic disease characterized by microcytosis, hypochromia and anemia, is predominantly caused by deletions of the α-globin genes, HBA2 and HBA1. In this study, we describe a novel 31.1 kb α-thal deletion, - -(MEX3) (NC_000016.10: g.151479_182582del), observed in a Mexican family, probably originated from non homologous recombination between two Alu sequences; the 5' Alu element has been involved in at least two other α-thal deletions [- -(FIL) (NG_000006.1: g.11684_43534del) and - -(KOL)] and possesses a core homologous sequence next to the - -(MEX3) breakpoint...
August 9, 2017: Hemoglobin
Mehrnoush Kosaryan, Malihe Rahimi, Hadi Darvishi-Khezri, Neda Gholizadeh, Rozita Akbarzadeh, Aily Aliasgharian
Diabetes mellitus (DM) is one of the potential complications in patients with transfusion-dependent β-thalassemia major (β-TM). In this case-controlled study, we examined the pancreatic iron levels in outpatients with β-TM. In this study, cases of patients with β-TM and DM were gender- and age-matched with control subjects, who were non-diabetic and had normal blood glucose on standard oral glucose tolerance (OGTT) tests. One of four diagnoses [normal, pre-diabetes, impaired glucose tolerance (IGT), DM] was made according to the American Diabetes Association (ADA) criteria...
August 1, 2017: Hemoglobin
Shanjuan Yu, Yang Chen, Ketong Lai, Roma Kajal Dewan, Yunyan He
β-Thalassemia (β-thal) is the most common inherited hemolytic anemia worldwide. Elevated Hb A2 is a mark of β-thal carriers. The aim of this study was to identify the pathogenic variants associated with the Hb A2 levels. One thousand and thirty β-thal carriers were recruited for this study. Using positive natural expression quantitative trait loci (eQTL) analysis, a significant variant was selected. Genotyping for the rs231841 polymorphism was performed by the Sequenom MassARRAY IPLEX platform. All genetic association analyses were performed with the PLINK program...
July 26, 2017: Hemoglobin
Abdul H Kandhro, Virapong Prachayasittikul, Chartchalerm Isarankura Na-Ayudhya, Pornlada Nuchnoi
Among microcytic hypochromic anemias, the most common disorders are iron deficiency anemia and co-pathological conditions such as α- or β-thalassemia (α- or β-thal) traits. The aim of the present study was to determine the frequency and prevalence of iron deficiency anemia and α- or β-thal traits based on clinical laboratory data across different ethnic groups in five districts of Sindh Province, Pakistan. The present retrospective study analyzed 3 years (2012-2015) of encoded and unlinked clinical laboratory data, and identified 3030 microcytic hypochromic anemia cases...
July 26, 2017: Hemoglobin
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
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
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
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
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
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
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
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
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