Hemoglobin Willamette (alpha2beta2 51Pro replaced by Apg (D2)) a new abnormal human hemoglobin.

abstract：:The comparative mobilities, in citrate agar electrophoresis, of 91 mutant hemoglobins are presented in relation to their molecular structure and in some cases, to their mobilities in other types of electrophoresis. More than a third of the alpha chain mutants (11 of the 27 examined) and half of the beta chain mutants ...

journal_title：Hemoglobin

authors： Schneider RG,Hightower B

更新日期：1977-01-01 00:00:00

abstract：:In a multicenter study (eight centers), we determined secretory phospholipase A(2) (sPLA(2)) levels in patients with sickle cell disease and acute chest syndrome (ACS). The diagnosis of ACS was made according to established criteria. The sPLA2 levels were determined in blood samples collected at baseline (time of diag...

journal_title：Hemoglobin

authors： Ballas SK,Files B,Luchtman-Jones L,Benjamin L,Swerdlow P,Hilliard L,Coates T,Abboud M,Wojtowicz-Praga S,Kuypers FA,Michael Grindel J

更新日期：2006-01-01 00:00:00

abstract：:Sickle cell disease is an inherited hemoglobinopathy associated with significant morbidity and mortality. Reports suggest a high sickle cell disease burden among the indigenous Tharu population of Nepal, who for centuries have inhabited regions where malaria is endemic. Unfortunately, health care resources are limited...

journal_title：Hemoglobin

authors： Marchand M,Gill C,Malhotra AK,Bell C,Busto E,McKeown MD,Cherukupalli A,Yeo J,Arnold B,Kapoor V

更新日期：2017-01-01 00:00:00

abstract：:We present the case of a child in whom beta-thalassemia (thal) major was apparently caused by homozygosity for a 4-base deletion mutation [codons 41/42 (-TTCT)] of the beta-globin gene. However, the mutation was not identified in the father. The presence of a deletional beta-thal was detected by long-range polymerase ...

journal_title：Hemoglobin

authors： Liao C,Feng Q,Li J,Huang Y,Li D

更新日期：2007-01-01 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：:Hemoglobin Brisbane is a new hemoglobin variant which produces a mile erythrocytosis. It is not detectable by electrophoresis at pH 8.6 or by isoelectric focusing but it is mildly unstable and gives a positive result with standard stability tests. The new hemoglobin has increased oxygen affinity and reduced co-operati...

journal_title：Hemoglobin

authors： Brennan SO,Wells RM,Smith H,Carrell RW

更新日期：1981-01-01 00:00:00

abstract：:α-Thalassemia (α-thal) is a common hemoglobinopathy mainly caused by deletion of one or both α-globin genes. We describe an autochthonous Belgian family diagnosed with α-thal trait. Molecular analysis revealed a novel large deletion of at least 170 kb between 226.68 kb (0.2 Mb) and 402.68 kb (0.4 Mb) from the telomere...

journal_title：Hemoglobin

authors： Heireman L,Luyckx A,Schynkel K,Dheedene A,Delaunoy M,Adam AS,Gulbis B,Dierick J

更新日期：2019-03-01 00:00:00

abstract：:We describe a high oxygen affinity hemoglobin (Hb) variant (Hb Vanderbilt) as a result of a heterozygous novel base change from T to A at codon 89 (AGT>AGA) leading to an amino acid change from serine to arginine. ...

journal_title：Hemoglobin

authors： Goodyer MJ,Elhassadi EI,Percy MJ,McMullin MF

更新日期：2011-01-01 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：: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：:Two new families with red cell pyrimidine 5'-nucleotidase (P5N) deficiencies were found in Japan. The enzyme activities were 4.8% in case 1 and 9.7% in case 2. The propositi showed characteristic hemolytic anemia with market basophilic stippling, increased reduced glutathione content and accumulation of pyrimidine nuc...

journal_title：Hemoglobin

authors： Ishida Y,Fujii H,Miwa S

更新日期：1980-01-01 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：:Hb H (β4) disease is an inherited hemoglobin (Hb) defect in which three of the four α-globin genes are deleted or dysfunctional. The clinical manifestations vary widely from mild asymptomatic anemia to a severely anemic state. Recent literature suggests that Hb H disease is not as benign a disorder as previously thoug...

journal_title：Hemoglobin

authors： Liao C,Zhou JY,Xie XM,Tang HS,Li R,Li DZ

更新日期：2014-01-01 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：:Our study aimed to determine the number of couples with normal hemoglobin (Hb) electrophoresis and low-borderline hematological values, which may come up with a clinically critical status in their offspring. The number of couples at risk for severe α-thalassemia (α-thal) needed to be estimated before recommending gene...

journal_title：Hemoglobin

authors： Hafezi-Nejad N,Khosravi M,Bayat N,Kariminejad A,Hadavi V,Oberkanins C,Azarkeivan A,Najmabadi H

更新日期：2014-01-01 00:00:00

abstract：:Despite estimated high prevalence of inherited hemoglobin (Hb) disorders among tribal populations in Madhya Pradesh State, India, the burden of disease is unknown, leading to high morbidity and associated mortality. Our aim was to screen tribal populations in designated tribal districts of Madhya Pradesh State for var...

journal_title：Hemoglobin

authors： Chourasia S,Kumar R,Singh MPSS,Vishwakarma C,Gupta AK,Shanmugam R

更新日期：2020-11-01 00:00:00

abstract：:We report a novel frameshift mutation in exon 3 of the β-globin gene, that, in the heterozygous state, leads to a β-thalassemia intermedia (β-TI) phenotype (marked anemia, splenomegaly, hyperbilirubinemia, jaundice, unbalanced synthesis of α/non-α chains in a 34-year-old Italian woman. This frameshift mutation, due to...

journal_title：Hemoglobin

authors： Amato A,Cappabianca MP,Perri M,Zaghis I,Mastropietro F,Ponzini D,Di Biagio P,Piscitelli R

更新日期：2012-01-01 00:00:00

abstract：:Genetic screening is an important tool to control, minimize, and prevent genetic disorders. Saudi Arabia started the first national premarital screening (PMS) program to control inherited hemoglobin (Hb) disorders that are the most commonly inherited genetic disorders in the Kingdom of Saudi Arabia. The aim of this st...

journal_title：Hemoglobin

authors： Al Sulaiman A,Suliman A,Al Mishari M,Al Sawadi A,Owaidah TM

更新日期：2008-01-01 00:00:00

abstract：:We report the molecular characterization of Hb Crete [beta129(H7)Ala-->Pro] in a female subject from the Greek island of Crete. DNA sequence analysis revealed a 1368 GCC-->CCC base substitution in exon 3 of the beta-globin gene, leading to the Ala-->Pro amino acid change at codon 129. Both the proband and her mother, ...

journal_title：Hemoglobin

authors： Christopoulou G,Tserga A,Patrinos GP,Papadakis MN

更新日期：2004-01-01 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：: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：:The unusual combination of haemoglobins S and E was found in two Saudi Arab siblings. The father was homozygous for HbE and the mother was heterozygous for HbA and HbS. Clinical and laboratory findings are presented and compared with those of the six cases of HbSE heterozygosity previously reported. The significance o...

journal_title：Hemoglobin

authors： Hardy MJ,Ragbeer MS

更新日期：1985-01-01 00:00:00

abstract：:Hb D-Punjab [β121(GH4)Glu→Gln] is prevalent in the northern states of the Indian subcontinent. Due to inadequate data from Asian countries, the origin and spread of the Hb D-Punjab mutation are uncertain. In a study of sickle cell hemoglobinopathies, we detected the Hb D-Punjab mutation in 25 subjects from 11 unrelate...

journal_title：Hemoglobin

authors： Patel DK,Mashon RS,Patel S,Dash PM,Das BS

更新日期：2010-01-01 00:00:00

abstract：:Hb Westmead or alpha 2 122(H5)His----Gln beta 2 is one of the most common hemoglobin variants in Guangxi, a province in Southern China. The alpha 2-globin DNA sequence of a carrier for this variant was selectively amplified by the polymerase chain reaction and analyzed with the restriction enzyme Stu I. We found that ...

journal_title：Hemoglobin

authors： Jiang NH,Liang S,Wen XJ,Liang R,Su C,Tang Z

更新日期：1991-01-01 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：:Hb Groene Hart [alpha119(H2)Pro-->Ser, CCT-->TCT (alpha1)] has been reported in heterozygotes of Moroccan origin and also in association with the common -alpha(3.7) deletion. In all cases, the mutated protein was not detectable but was apparently associated with a mild alpha-thalassemia (thal) phenotype, presumably du...

journal_title：Hemoglobin

authors： Giordano PC,Zweegman S,Akkermans N,Arkesteijn SG,van Delft P,Versteegh FG,Wajcman H,Harteveld CL

更新日期：2007-01-01 00:00:00

abstract：:Hb Val de Marne [alpha 133(H16)Ser-->Arg] was found in a French family during a neonatal hemoglobinopathy screening program. The abnormal hemoglobin was found, within a few months interval, in two newborn children who were first cousins. In the children as well as in the parents carrying this hemoglobin variant, the r...

journal_title：Hemoglobin

authors： Wajcman H,Kister J,M'Rad A,Marden MC,Riou J,Galacteros F

更新日期：1993-10-01 00:00:00

abstract：:Iron is an essential component in the structure of certain molecules such as hemoglobin (Hb), myoglobin, cytochrome C and some enzymes. The iron gateway to cells is transferrin receptor (TfR). Soluble transferrin receptor (sTfR) is a product of the TfR that circulates in plasma, its concentration therefore, is proport...

journal_title：Hemoglobin

authors： Khatami S,Dehnabeh SR,Mostafavi E,Kamalzadeh N,Yaghmaei P,Saeedi P,Shariat F,Bagheriyan H,Zeinali S,Akbari MT

更新日期：2013-01-01 00:00:00

abstract：:The high performance liquid chromatograms of the hemoglobins in a hemolysate show minor peaks on reversed phase columns in addition to the expected major peaks of the alpha, beta, and gamma chains. One of these had previously been identified as the delta chain. The material in the most prominent minor peak which is te...

journal_title：Hemoglobin

authors： Schroeder WA,Shelton JB,Huynh V,Shelton JR

更新日期：1986-01-01 00:00:00

abstract：:The aim of this study was to evaluate the clinical, biological and genetic factors that could be associated with the use and dose of morphine during hospitalization for vaso-occlussive crisis (VOC) in adults with sickle cell disease. Ninety-nine hospitalizations for acute VOC (58 sickle cell disease patients aged 18 t...

journal_title：Hemoglobin

authors： Sabrie M,Cannas G,Tazarourte K,Poutrel S,Connes P,Hot A,Renoux C,Fattoum J,Joly P

更新日期：2018-07-01 00:00:00