Beta-thalassemia associated with alpha-thalassemia in Thailand.

abstract：:Hb Taybe is a highly unstable hemoglobin (Hb) variant caused by a 3 bp deletion at codons 38/39 (-ACC) on the α1-globin gene. We report for the first time, a patient with a compound heterozygosity for Hb Taybe and a 5 bp deletion at the splice donor site of IVS-I on the α2-globin gene and ischemic stroke and priapism....

journal_title：Hemoglobin

authors： Juul MB,Vestergaard H,Petersen J,Frederiksen H

更新日期：2012-01-01 00:00:00

abstract：:The molecular basis of the thalassemias has been studied in many of the world's populations. Here we report the results of the first screening for mutations in Vietnam. Twenty-three unrelated patients, of which 17 have Hb E/beta-thalassemia, were diagnosed and beta-globin mutations were detected in all 46 chromosomes....

journal_title：Hemoglobin

authors： Filon D,Oppenheim A,Rachmilewitz EA,Kot R,Truc DB

更新日期：2000-05-01 00:00:00

abstract：:β-Thalassemia intermedia (β-TI) is a clinical term describing a range of clinical phenotypes that are intermediate in severity between the carrier state and β-thalassemia major (β-TM). To characterize the molecular basis of β-TI in Erbil Province, Northern Iraq, 83 unrelated patients were investigated. Detection of β-...

journal_title：Hemoglobin

authors： Shamoon RP,Al-Allawi NA,Cappellini MD,Di Pierro E,Brancaleoni V,Granata F

更新日期：2015-01-01 00:00:00

abstract：:Hb Constant Spring (Hb CS), the gene (alpha(CS)) of which arises from a point mutation in the termination codon of the alpha2-globin gene, is the most prevalent variety of nondeletional alpha-thalassemia (alpha-thal) in Asian populations. It is a major cause of Hb H disease in compound heterozygotes who have Hb CS com...

journal_title：Hemoglobin

authors： Ne-Win,Harano K,Harano T,Kyaw-Shwe,Aye-Aye-Myint,Khin-Thander-Aye,Okada S

更新日期：2008-01-01 00:00:00

abstract：:The aim of this study was to analyze the rare β-thalassemia (β-thal) mutations in the Pakistani population. A total of 8716 unrelated Pakistani individuals having children with transfusion-dependent thalassemia were investigated by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) for the p...

journal_title：Hemoglobin

authors： Hussain A,Ahmed S,Ali N,S Mailk H,Anees M,Chuahdry AH,Ahmed P

更新日期：2017-03-01 00:00:00

abstract：:Low bone mass, a major cause of morbidity in patients with β-thalassemia major (β-TM), is multifactorial. There is lack of data about the current prevalence of low bone mass in patients with β-TM. The aims of this study are to examine the current prevalence of low bone mass in β-TM patients and the association between...

journal_title：Hemoglobin

authors： Tzoulis P,Ang AL,Shah FT,Berovic M,Prescott E,Jones R,Barnard M

更新日期：2014-01-01 00:00:00

abstract：:β-Thalassemia (β-thal) is the most frequently observed hereditary blood disorder that results from genetic defects causing deficient synthesis of hemoglobin (Hb) polypeptide chains. Detecting thalassemia mutations are necessary for prenatal diagnosis (PND) programs leading a better quality of life for the patients, as...

journal_title：Hemoglobin

authors： Azimi A,Nejati P,Tahmasebi S,Alimoradi S,Alibakhshi R

更新日期：2019-01-01 00:00:00

abstract：:The recognition of sickle cell disease as a chronic vasculopathy characterized by endothelial injury has led to new insights into complex biological processes and offers the potential for novel pharmacological treatments. Endothelial injury has been related to impaired nitric oxide (NO) homeostasis, inflammation, oxid...

journal_title：Hemoglobin

authors： Hoppe CC

更新日期：2011-01-01 00:00:00

abstract：:Laboratory investigation of hemoglobinopathies includes complete blood count (CBC), hemoglobin (Hb) typing by high performance liquid chromatography (HPLC) and DNA analysis. DNA analysis is the most reliable method but requires a manually laborious procedure and is time consuming. A more practical method of detecting ...

journal_title：Hemoglobin

authors： Wisedpanichkij R,Jindadamrongwech S,Butthep P

更新日期：2015-01-01 00:00:00

abstract：:Toto is one of the smallest tribes in the world. This primitive sub Himalayan, endogamous tribe lives in a small, isolated village called Totopara in the Jalpaiguri district of West Bengal in India. The tribal communities of West Bengal are vulnerable to various genetic disorders such as β-thalassemia (β-thal). We hav...

journal_title：Hemoglobin

authors： Bhattacharyya D,Mukhopadhyay A,Chakraborty A,Dasgupta S,Mukhopadhyay S,Pal N,Basak J

更新日期：2013-01-01 00:00:00

abstract：:This report describes the first case in Spain of a severe form of beta-thalassemia (thal) due to a compound heterozygosity for the IVS-II-848 (C --> A) and the nonsense codon 39 (C --> T) mutations. Five members of a family from Cadiz (southern Spain) were studied. The proband was an 8-year-old girl diagnosed as anemi...

journal_title：Hemoglobin

authors： Ropero P,Villegas A,Muñoz J,Briceño O,Mora A,Salvador M,Polo M,González FA

更新日期：2006-01-01 00:00:00

abstract：:We describe a novel compound heterozygous genotype which consists of two point mutations named Hb Adana (HBA1: c.179G>A) and codon 127 (HBA2: c.382A>T) in a Kurdish family with two girls affected with severe α-thalassemia (α-thal). Both patients (the proband and her sister) had a history of splenectomy during childhoo...

journal_title：Hemoglobin

authors： Azimi A,Tahmasebi S,Moradi K,Nejati P,Alibakhshi R

更新日期：2020-03-01 00:00:00

abstract：:With around 7,500 β-thalassemia (β-thal) births in India annually, preventive measures such as pre marital counseling and prenatal diagnosis are needed to decrease the incidence of the disease in the country. The predominant mutant alleles vary from the Middle East through India to Sri Lanka, as well as in different r...

journal_title：Hemoglobin

authors： Kumar R,Sharma DC,Kishor P

更新日期：2012-01-01 00:00:00

abstract：: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 Republ...

journal_title：Hemoglobin

authors： Cao J,He S,Pu Y,Liu J,Liu F,Feng J

更新日期：2017-01-01 00:00:00

abstract：:Major advances were presented at the 19th International Conference on Chelation (ICOC) in London, UK including changes in iron chelation therapy that led to the complete treatment of transfusional iron overload. The first oral iron chelation results in animals using deferiprone (L1) were published in 1985, and effecti...

journal_title：Hemoglobin

authors： Kontoghiorghes GJ

更新日期：2011-01-01 00:00:00

abstract：:Alpha-Thalassemia (thal) is generally considered to be an expression defect caused mostly by deletions silencing one or more alpha-globin genes. Although nondeletional alpha-thalassemia is considered rare, in our laboratory we frequently observe alpha-thal phenotypes induced by point mutations. We report a new point m...

journal_title：Hemoglobin

authors： Harteveld CL,van Delft P,Plug R,Versteegh FG,Hagen B,van Rooijen I,Kok PJ,Wajcman H,Kister J,Giordano PC

更新日期：2002-08-01 00:00:00

abstract：:A study of the spectrum of beta-thalassemia mutations in the southern part of the West Bank of the Palestinian Authority revealed the presence of 10 different beta-globin mutations. The study included 41 patients and 54 carriers of beta-thalassemia and sickle cell anemia. The spectrum of mutations observed was typical...

journal_title：Hemoglobin

authors： El-Latif MA,Filon D,Rund D,Oppenheim A,Kanaan M

更新日期：2002-02-01 00:00:00

abstract：:We report a newborn with a compound heterozygosity for Hb O-Arab (HBB: 364G>A) and Hb D-Los Angeles (HBB: 364G>C). To the best of our knowledge, the combination of these two hemoglobin (Hb) variants has not been identified and reported before. The variants of the proband and parents were identified by high-performance...

journal_title：Hemoglobin

authors： van Gammeren AJ,Pelkmans L,Endschot CCWV,Roelofsen-de Beer RJAC,Harteveld CL

更新日期：2020-01-01 00:00:00

abstract：:Codon 14 (+T) (HBB: c.44_45insT) is a very rare β-thalassemia (β-thal) mutation previously reported in three β-thal major (β-TM) patients of Azerbaijani origin. None of the previous reports described the genotype-phenotype correlation of the mutation. We here report the first case of homozygous codon 14 together with ...

journal_title：Hemoglobin

authors： Aliyeva G,Asadov C,Mammadova T,Musayev S,Abdulalimov E,Gafarova S,Guliyeva Y

更新日期：2018-07-01 00:00:00

abstract：:Hemoglobinopathies exhibit a remarkable phenotypic diversity in terms of disease severity, while individual genetic background plays a key role in differential response to drug treatment. In the last decade, genomic variants in genes located within, as well as outside the human β-globin cluster have been shown to be s...

journal_title：Hemoglobin

authors： Kolliopoulou A,Siamoglou S,John A,Sgourou A,Kourakli A,Symeonidis A,Vlachaki E,Chalkia P,Theodoridou S,Ali BR,Katsila T,Patrinos GP,Papachatzopoulou A

更新日期：2019-01-01 00:00:00

abstract：: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 a...

journal_title：Hemoglobin

authors： He S,Qin Q,Huang P,Zhang S,Yi S,Lin L,Zuo Y,Chen Q,Deng J,Zheng C,Chen B

更新日期：2017-01-01 00:00:00

abstract：:β-Thalassemia (β-thal) is characterized by reduction or absence of β-globin gene expression. We describe the spectrum of mutations observed in a large cohort of β-thal carriers in Khuzestan, Southwest Iran. All together 1,241 blood samples from individuals with decreased mean corpuscular volume (MCV) and elevated Hb A...

journal_title：Hemoglobin

authors： Galehdari H,Salehi B,Azmoun S,Keikhaei B,Zandian KM,Pedram M

更新日期：2010-01-01 00:00:00

abstract：:The capillary electrophoresis (CE) system allows the quantification of Hb Bart's (γ4) and Hb H (β4) that is used for screening of Hb H disease. However, Hb Bart's hydrops fetalis and Hb H are not always codetected in patients with Hb H disease. In this study, 35 samples were analyzed for the α0-thalassemia (α0-thal) [...

journal_title：Hemoglobin

authors： Khongthai K,Ruengdit C,Panyasai S,Pornprasert S

更新日期：2019-01-01 00:00:00

abstract：:We report a case of a 43-year-old woman, affected by human immunodeficiency virus (HIV) and beta-thalassemia major (beta-TM), adequately treated with antiretroviral and transfusion-chelation therapy, that develops progressive right ventricular dysfunction due to severe pulmonary arterial hypertension (PAH), in absence...

journal_title：Hemoglobin

authors： Derchi G,Lai ME,Marcaccini P,Carta MP,Vacquer S

更新日期：2010-01-01 00:00:00

abstract：:Chronic blood transfusions are necessary for patients with hereditary anemia such as thalassemia, and for patients with myelodysplastic syndrome (MDS) who become anemic and transfusion-dependent. A common consequence of chronic transfusion is iron accumulation that can lead to organ damage. While there is general agre...

journal_title：Hemoglobin

authors： Yeh SP,Yang YS,Yao CY,Peng CT

更新日期：2009-01-01 00:00:00

abstract：:An abnormal profile of cation exchange high performance liquid chromatography for the determination of Hb A1c led to the discovery of a new hemoglobin variant with a His----Tyr substitution at position 97(FG4) of the beta chain. The variant comprised about equal proportion to normal Hb A. It showed an increased oxygen...

journal_title：Hemoglobin

authors： Ohba Y,Imai K,Kumada I,Ohsawa A,Miyaji T

更新日期：1989-01-01 00:00:00

abstract：:We describe a case of beta-thalassemia (thal) trait in which the patient also carries a novel delta chain variant due to a missense mutation at amino acid codon 13 (GCC-->GAC, Ala-->Asp). The level of Hb A2 was not elevated, raising the potential for misdiagnosis. ...

journal_title：Hemoglobin

authors： Walker L,Patterson M,Eng B,McFarlane A,Waye JS

更新日期：2005-01-01 00:00:00

abstract：:Epidemiological studies and experimental data suggest iron involvement in atherosclerosis. The relation between iron and atherosclerosis is complex and remains contradictory. In thalassemia patients, non transferrin bound iron (NTBI) and free hemoglobin (Hb) are present in plasma and may accelerate atherogenesis, but ...

journal_title：Hemoglobin

authors： Marx JJ,Kartikasari AE,Georgiou NA

更新日期：2008-01-01 00:00:00

abstract：:Hemoglobin (Hb) disorders are common, potentially lethal monogenic diseases, posing a global health challenge. With worldwide migration and intermixing of carriers, demanding flexible health planning and patient care, hemoglobinopathies may serve as a paradigm for the use of electronic infrastructure tools in the coll...

journal_title：Hemoglobin

authors： Lederer CW,Basak AN,Aydinok Y,Christou S,El-Beshlawy A,Eleftheriou A,Fattoum S,Felice AE,Fibach E,Galanello R,Gambari R,Gavrila L,Giordano PC,Grosveld F,Hassapopoulou H,Hladka E,Kanavakis E,Locatelli F,Old J,Patrino

更新日期：2009-01-01 00:00:00

abstract：:Almost 3 million babies were tested in a newborn screening program in Minas Gerais, Brazil (1998-2008); 128 who have S-like hemoglobins (Hbs) were tested for the β(S) allele and 112 were identified through polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) or sequencing. Hb Stanleyville-II [...

journal_title：Hemoglobin

authors： Silva MR,Sendin SM,Pimentel FS,Velloso-Rodrigues C,Romanha ÁJ,Viana MB

更新日期：2012-01-01 00:00:00