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Sheng He, Qian Qin, Peng Huang, Shujie Zhang, Shang Yi, Li Lin, Yangjin Zuo, Qiuli Chen, Jianping Deng, Chenguang Zheng, Biyan Chen
We report a large novel α-globin cluster deletion that we named - -(PG) (NG_000006.1: g.93628_542759del450131), in a Chinese family. This large deletion is approximately 450 kb long, spanning from upstream of the PolR3k gene at the 5' end to the RAB11FIP3 gene at the 3' end of chromosome 16p13.3. This deletion removes all the globin distal regulatory elements as well as the whole α-globin gene cluster. Patients with heterozygous - -(PG)/αα had red blood cell (RBC) indices consistent with α-thalassemia (α-thal) trait, but no apparent increase in a cancer tendency or mental disability, microcephaly, relative hypertelorism, unusual facies or genital anomalies...
November 21, 2017: Hemoglobin
Fan Jiang, Gui-Lan Chen, Jian Li, Xing-Mei Xie, Jian-Ying Zhou, Can Liao, Dong-Zhi Li
In this study, we report the experience of a pre gestational thalassemia screening program at a single center in Southern China. Free thalassemia screening, genetic counseling and prenatal diagnosis (PND) for couples planning pregnancy were implemented over a 2-year period. Among a total of 83,062 screened individuals (41,531 couples), the allele frequencies of β-thalassemia (β-thal), - -(SEA) and - -(THAI) deletions were 3.79, 5.75 and 0.028%, respectively. Out of the 41,531 couples, 11,039 couples had at least one partner who had a positive screening test; of these, 455 at-risk couples (1...
November 10, 2017: Hemoglobin
Jinru Cao, Shuzhen He, Yudong Pu, Jingjing Liu, Fuping Liu, Jun Feng
α-Thalassemia (α-thal) is a very common single gene hereditary disease caused by large deletions or point mutations of the α-globin gene cluster in tropical and subtropical regions of the world. Here, we report for the first time, a novel large α-thal deletion in a Chinese family from Jiangsu Province, People's Republic of China (PRC), which removes almost the entire α2 and α1 genes from the α-globin gene cluster. Thus, it was named the Jiangsu deletion (- -(JS)) on the α-globin gene cluster causing α(0)-thal...
November 10, 2017: Hemoglobin
Hua Jiang, Lv-Yin Huang, Li Zhen, Fan Jiang, Dong-Zhi Li
Hb H disease is generally a moderate form of α-thalassemia (α-thal) that rarely requires regular blood transfusions. In this study, two Chinese families with members carrying transfusion-dependent Hb H disease were investigated for rare mutations on the α-globin genes (HBA1, HBA2). In one family, Hb Zürich-Albisrieden [α59(E8)Gly→Arg; HBA1: c.178G>C] in combination with the Southeast Asian (- -(SEA)) deletion was the defect responsible for the severe phenotype. In another family, a novel hemoglobin (Hb) variant named Hb Sichuan (HBA1: c...
November 8, 2017: Hemoglobin
Nelson C N Chan, King-Ho Chow, Rico F Y Leung, Sequence S H Tang, Michelle F W Chiu, Rosalind Lie, Kelvin C K Cheng, Kin-Mang Lau, Natalie P H Chan, Margaret H L Ng
We report a novel HBB: c.114G>C mutation in a Chinese family. This mutation resulted in a β37(C3)Trp→Cys amino acid substitution and was synonymous with Hb Kent, a hemoglobin (Hb) variant that was reported exclusively in patients of European descent. Though Hb Kent has a normal oxygen affinity and molecular stability, it has a characteristic dual variant appearance on cellulose acetate electrophoresis (CAE) and high performance liquid chromatography (HPLC) caused by the posttranslational modification of cysteine...
October 18, 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...
September 13, 2017: Hemoglobin
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
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...
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
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
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
Chrysoula Apostolou, Philippos Klonizakis, Maria Mainou, Eleni Kapsali, Katerina Kafantari, Aggeliki Kotsiafti, Evaggelia Vetsiou, Sofia Vakalopoulou, Efthymia Vlachaki
The use of rivaroxaban in patients with hemoglobinopathies and thrombotic events has not been studied extensively. Here we present eight cases of such patients, five receiving rivaroxaban for stroke and systemic embolism prevention due to non-valvular atrial fibrillation and three for deep vein thrombosis treatment. The follow-up period ranged from 6 to 34 months. During this period none of the patients experienced any thrombotic or bleeding event.There were no other adverse events reported. Further studies with larger numbers of patients with hemoglobinopathies are needed to determine the use of rivaroxaban and ensure its safety in this patient setting...
May 2017: Hemoglobin
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