Delta-thalassemia in Cyprus.

abstract：:We report the identification of two different mutations involving the first nucleotide of intron 1 of the alpha2-globin gene: IVS-I-1 G-->A and G-->T. The available data indicated that both mutations reduce the efficiency of proper mRNA splicing, resulting in alpha(+)-thalassemia (alpha(+)-thal). ...

journal_title：Hemoglobin

authors： Waye JS,Eng B,Dutly F,Frischknecht H

更新日期：2009-01-01 00:00:00

abstract：:We report four cases of compound heterozygotes for Hb S (HBB: c.20A>T) and a rare β0-thalassemia (β0-thal) mutation, Hb Westdale (HBB: c.380_396delTGCAGGCTGCCTATCAG), characterized by a 17 bp deletion between codons 126 to 131 in exon 3 of the β-globin gene of human hemoglobin (Hb) confirmed by direct β-globin gene se...

journal_title：Hemoglobin

authors： Dehury S,Meher S,Patel S,Das K,Jana A,Bhattacharya S,Sahoo S,Sarkar B,Mohanty PK

更新日期：2019-03-01 00:00:00

abstract：:We recently reported the discovery of a second alpha chain, differing from the common alpha chain by the replacement 113 (or 114) Leucine leads to Histidine, in the hemoglobin of several domestic sheep. The ratio of the common alpha chain, here called alpha Leu, to the variant one, here called II alpha His, was either...

journal_title：Hemoglobin

authors： Vestri R,Salmaso S,Condò SG,Antonini E

更新日期：1981-01-01 00:00:00

abstract：:Hemolysates from 100,000 people who visited the Kyushu University Hospital and affiliated hospitals during the past 15 years were screened for hemoglobinopathies using electrophoresis on thin-layer starch gel; those exhibiting an abnormality were characterized further on clinical, biochemical, and genetic grounds. Of ...

journal_title：Hemoglobin

authors： Imamura T,Sugihara J,Matsuo T,Maruyama T,Ohta Y,Sumida I,Yamaoka K,Yanase T

更新日期：1980-01-01 00:00:00

abstract：:Raised Hb F is occasionally found in stress erythropoiesis associated with hemolytic anemias. In hereditary spherocytosis (HS), elevation of Hb F by 2-5% may be seen but Hb F in the range of 10-20% has not been reported. We present an interesting case of a child, initially presenting with high Hb F, who showed a spont...

journal_title：Hemoglobin

authors： Kar R,Saxena R,Pati HP

更新日期：2008-01-01 00:00:00

abstract：:Many patients with sickle cell disease receive blood transfusions as a life-saving treatment. However, excess transfusions may lead to increased body iron burden. Specifically, heart failure due to cardiac iron overload is the leading cause of death in these patients. The purpose of this study was to investigate the p...

journal_title：Hemoglobin

authors： Ibrahim el-SH,Rana FN,Johnson KR,White RD

更新日期：2012-01-01 00:00:00

abstract：:α-Thalassemia (α-thal) is assumed to be very prevalent in Bangladesh. We aimed to assess the prevalence of the disease in the country and provide a model for α-thal newborn screening in Bangladesh. We collected umbilical cord blood (UCB) samples from 413 unrelated newborns in Bangladesh. Demographic information, blood...

journal_title：Hemoglobin

authors： Anwar S,Taslem Mourosi J,Hasan MK,Hosen MJ,Miah MF

更新日期：2020-05-01 00:00:00

abstract：:We have identified a deletion of 125 bp (α-α(Δ125)) (NG_000006.1: g.37040_37164del) in the α-globin gene cluster in a Kabyle population. A combination of singlex and multiplex polymerase chain reaction (PCR)-based assays have been used to identify the molecular defect. Sequencing of the abnormal PCR amplification prod...

journal_title：Hemoglobin

authors： Singh AR,Lacan P,Cadet E,Bignet P,Dumesnil C,Vannier JP,Joly P,Rochette J

更新日期：2016-01-01 00:00:00

abstract：:The benefits of combined deferoxamine (DFO) and deferiprone (L1) chelation therapy, focusing on reducing myocardial iron loading, have been widely reported. Herein, we present the efficacy of combined chelation and its effects on iron load indices. Five thalassemia major (TM) patients who were undergoing chelation mon...

journal_title：Hemoglobin

authors： Tsironi M,Assimakopoulos G,Polonofi K,Rigaki K,Aessopos A

更新日期：2008-01-01 00:00:00

abstract：:A new beta-hemoglobin (Hb) variant, Hb Stockholm [beta7(A4)GluAsp], is described. The variant was characterized by mass spectrometry and DNA sequencing. The new variant is clinically silent but interferes with Hb A(1c) quantification using ion exchange chromatography, causing a falsely low Hb A(1c) level when using th...

journal_title：Hemoglobin

authors： Bergman AC,Beshara S,Byman I,Karim R,Landin B

更新日期：2009-01-01 00:00:00

abstract：:Erythropoiesis is increased in cultures of human blood progenitors when oxygen tension is reduced from 20% (room air) to 5% (low oxygen, closer to physiological bone marrow levels). The effects of low oxygen on gamma-globin synthesis and colony growth in methyl cellulose cultures of blood mononuclear cells from normal...

journal_title：Hemoglobin

authors： Weinberg RS,Acosta R,Knobloch ME,Garber M,Alter BP

更新日期：1995-09-01 00:00:00

abstract：:Homoserine, asparagine and glutamine do not restore the deformability of deoxygenated sickle cells in spite of noticeable morphological changes. These amino acids also do not raise the minimum gelling concentration of deoxyhemoglobin S. The use of these compounds as anti-sickling agents is therefore doubtful. ...

journal_title：Hemoglobin

authors： Shirahama K,Kubota S,Yang JT

更新日期：1980-01-01 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：:A hemoglobin variant with the same electrophoretic mobility as hemoglobin S was found in three generations of a black family. No clinical symptoms or findings were present in subjects heterozygous for this mutant. Except for target forms of mature erythrocytes, they have no abnormal hematologic findings. Structural st...

journal_title：Hemoglobin

authors： Jones RT,Koler RD,Duerst ML,Dhindsa DS

更新日期：1976-01-01 00:00:00

abstract：:Sickle cell disease presents a great clinical variability that remains largely misunderstood. New disease protective genetic modifiers acting mainly through an increased Hb F level have recently been described. We studied relations between clinical and hematological phenotypes and known sickle cell disease genetic mod...

journal_title：Hemoglobin

authors： Muszlak M,Pissard S,Badens C,Chamouine A,Maillard O,Thuret I

更新日期：2015-01-01 00:00:00

abstract：:A fast-moving hemoglobin variant was found in five members of a Chinese family of the Wuming district. The relative amount of this alpha chain variant in the heterozygote was about 20%. The abnormality caused no ill effects in its carriers. Sequence analysis identified a Lys substituting for Gln substitution at positi...

journal_title：Hemoglobin

authors： Zeng YT,Huang SZ,Xu L,Long GF,Lam H,Wilson JB,Huisman TH

更新日期：1981-01-01 00:00:00

abstract：:To study effects of ionizing radiation on apoptosis induction in leukocytes of alpha-thalassemia (alpha-thal) variants compared to normal controls, venous blood samples were obtained from 10 healthy volunteers and 30 alpha-thal patients. Different types alpha-thal were diagnosed by multiplex polymerase chain reaction ...

journal_title：Hemoglobin

authors： Tarang A,Mozdarani H,Akbari MT

更新日期：2009-01-01 00:00:00

abstract：:We studied two members of an African American family with erythrocytosis. An abnormal hemoglobin variant with an electrophoretic pattern on cellulose acetate similar to Hb J was identified. The oxygen dissociation curve using whole blood was biphasic, dramatically left-shifted, and hyperbolic. Sequence analysis of DNA...

journal_title：Hemoglobin

authors： Kattamis AC,Kelly KM,Ohene-Frempong K,Reilly MP,Keller M,Cubeddu R,Adachi K,Surrey S,Fortina P

更新日期：1997-03-01 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：: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：: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：:This study concerns the molecular characterization of beta-thalassemia (beta-thal) alleles in 210 chromosomes. In the studied population, mutations were detected in 98% of the beta-thalassemic chromosomes. Twenty-one molecular defects have been found, where the five dominant mutations, IVS-I-110 (G>A), nonsense mutati...

journal_title：Hemoglobin

authors： Boudrahem-Addour N,Zidani N,Carion N,Labie D,Belhani M,Beldjord C

更新日期：2009-01-01 00:00:00

abstract：:Patients with unstable hemoglobin (Hb), caused by a qualitative abnormality in α- and β-globin genes, are often asymptomatic or mildly symptomatic. It is often difficult to diagnose unstable Hb patients with only mild hemolysis or low oxygen saturation. We herein report a case of a family with an unstable Hb, specific...

journal_title：Hemoglobin

authors： Sakamoto A,Nakadate H,Tada K,Yamashiro Y,Ishiguro A

更新日期：2020-01-01 00:00:00

abstract：:From May 1985 to October 1987, 1,564 Southeast Asians living in Hawaii were screened for hereditary anemias. Microcytosis was determined by electronic red cell indices and morphology; iron deficiency was ruled out by normal red cell distribution width and normal protoporphyrin levels; Hb E was determined by electropho...

journal_title：Hemoglobin

authors： Hsia YE,Yuen J,Hunt JA,Rattamanasay P,Hall J,Takaesu N,Titus EA,Fujita J,Ford CA

更新日期：1988-01-01 00:00:00

abstract：:A chromatographic procedure for the separation of human globin chains is described. This method uses CM-Sepharose CL-6B as ion-exchanger and NaCl gradients formed in sodium phosphate buffers containing urea and 0.05M mercaptoethanol to elute the chains. One advantage of this system is that a column, once packed, may b...

journal_title：Hemoglobin

authors： Sparham SJ,Huehns ER

更新日期：1979-01-01 00:00:00

abstract：:We present the characterization of the molecular spectrum and frequency data of alpha-thal (thal) defects in Tunisia, and an evaluation of the efficacy and limitations of Hb Bart's (gamma4) measurement for the screening of alpha-thal at birth. Cord blood samples were collected from two different areas: the northeast o...

journal_title：Hemoglobin

authors： Zorai A,Harteveld CL,Bakir A,Van Delft P,Falfoul A,Dellagi K,Abbes S,Giordano PC

更新日期：2002-11-01 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：:Clinical, hematologic, and molecular genetic studies are reported for five families with SS patients having unusually high fetal hemoglobin (Hb F) levels (mean 28.3%, range 19-42%). Some of the individuals were symptom-free and one was not anemic. However, some were symptomatic despite a very high Hb F. Neither the Hb...

journal_title：Hemoglobin

authors： Seltzer WK,Abshire TC,Lane PA,Roloff JS,Githens JH

更新日期：1992-01-01 00:00:00

abstract：:Compound heterozygosity for one of the Hb Lepore mutations and β-thalassemia (β-thal) is a rare cause of non transfusion-dependent thalassemia. We report a 4-year-old boy who presented clinically as homozygous/compound heterozygous β-thal intermedia (β-TI), an impression that was corroborated by the initial hemoglobin...

journal_title：Hemoglobin

authors： Sreedharanunni S,Chhabra S,Hira JK,Bansal D,Sharma P,Das R

更新日期：2015-01-01 00:00:00

abstract：: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 Heal...

journal_title：Hemoglobin

authors： Yeruva SL,Paul Y,Oneal P,Nouraie M

更新日期：2016-09-01 00:00:00