Hb Aghia Sophia [alpha62(E11)Val-->0 (alpha1)], an "in-frame" deletion causing alpha-thalassemia.

abstract：:The effects of 2, 3-diphosphoglyceric acid (2, 3-DPG), adenosine triphosphate (ATP), inositol tetraphosphate (ITP), inositol pentaphosphate (IPP), and inositol hexaphosphate (IHP) on oxygen affinity of whole stripped hemoglobin (WSH), hemoglobin H (Hb-H; hatching hemoglobin), hemoglobin A (Hb-A), and hemoglobin D (Hb-...

journal_title：Hemoglobin

authors： Isaacks RE,Harkness DR,Goldman PH,Adler JL,Kim CY

更新日期：1977-01-01 00:00:00

abstract：:Population surveys performed in different Brazilian ethnic groups, and comprising 23,606 subjects, disclosed, besides the common S and D types, hemoglobins G and Por to Alegre, as well as high F, A'2 and an apparently unstable A2 variant. Additional studies on isolated families revealed the occurrence of hemoglobins I...

journal_title：Hemoglobin

authors： Salzano FM,Tondo CV

更新日期：1982-01-01 00:00:00

abstract：:An electrophoretically I-like hemoglobin variant was detected during a survey for abnormal hemoglobins in Dagestan (USSR). Neither clinical nor hematological abnormalities were seen in the carrier for this mutant hemoglobin. Structural studies demonstrated a previously undescribed substitution of alpha 60 (E9) Lys lea...

journal_title：Hemoglobin

authors： Spivak VA,Molchanova TP,Ermakov NV,Tokarev YuN,Martinez G,Szelenyi J,Horanyi M,Foldi J,Hollan S,Kazieva H,Shamov IA

更新日期：1981-01-01 00:00:00

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：:Guidelines for minimizing risks from alloimmunization, other transfusion reactions, and infection risks are presented based on the Thalassemia International Federation (TIF) guidelines. Future developments including pretreatment of the red cell product that may reduce infection risks are discussed. The rationale for g...

journal_title：Hemoglobin

authors： Porter J

更新日期：2009-01-01 00:00:00

abstract：:Oxidative stress is considered to be the main cause for several chronic diseases including diabetes. Through hyperglycemia, hyperlipidemia, hypertension and possible iron dyshomeostasis, diabetes induces oxidative stress that causes damage to multiple organs, leading to various complications. Therefore, antioxidant th...

journal_title：Hemoglobin

authors： Wei W,Liu Q,Tan Y,Liu L,Li X,Cai L

更新日期：2009-01-01 00:00:00

abstract：:We describe a Chinese patient who was heterozygous for both Hb Q-Thailand [alpha74(EF3)Asp-->His] and Hb E [beta26(B7)Gly-->Asp, GAG-->GTG]. Interaction of the alpha(Q-Thailand) and beta(E) chains leads to a hemoglobin (Hb) variant, namely Hb QE, which differs in electrophoretic mobility and high performance liquid ch...

journal_title：Hemoglobin

authors： Li D,Liao C,Li J,Xie X,Zhong H

更新日期：2008-01-01 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：: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：:A new beta-chain variant, Hemoglobin Windsor [beta 11 (A8)Val----Asp] was discovered in a 9-month-old child who presented with a hemolytic anemia of 59 g/l with an intercurrent viral infection. Her blood film demonstrated fragmented cells, target cells, stipple cells, nucleated red cells, polychromasia and some sphero...

journal_title：Hemoglobin

authors： Gilbert AT,Fleming PJ,Sumner DR,Hughes WG,Holland RA,Tibben EA

更新日期：1989-01-01 00:00:00

abstract：:Hb S [β6(A3)Glu→Val, GAG>GTG] is a β-globin gene variant that has a very low incidence in the Thai population. Coinheritance of Hb S and β(0)-thalassemia (β-thal) can result in severe clinical conditions. This study reports the case of a Thai patient with a compound heterozygosity for Hb S and β(0)-thal codon 17 (A>T)...

journal_title：Hemoglobin

authors： Pornprasert S,Panyasai S,Kongthai K,Treesuwan K

更新日期：2012-01-01 00:00:00

abstract：:Mutations that cause destabilization of the hemoglobin (Hb) tetramer are a rare cause of hemolytic anemia. In contrast to the hemolytic anemia caused by enzyme deficiencies, a dominant mode of inheritance characterizes the unstable Hbs. Hb Alesha [β67(E11)Val→Met; HBB: c.202G>A] is caused by a G>A mutation at codon 67...

journal_title：Hemoglobin

authors： Jiang H,Yan JM,Zhou JY,Li DZ

更新日期：2016-11-01 00:00:00

abstract：:To help clarify the hematological picture of patients who may be positive for beta- and delta-globin gene mutations, the following study was carried out. Our aim was to identify the delta-globin gene mutations found in the Greek Cypriot population, their frequencies and the Hb A2 values associated with them. Seventy-f...

journal_title：Hemoglobin

authors： Pavlou E,Phylactides M,Kyrri A,Kalogerou E,Makariou C,Georgiou I,Kleanthous M

更新日期：2006-01-01 00:00:00

abstract：:A 7-year old boy presented with a history of recurrent respiratory infections and hypochromic microcytic anemia. Iron profiles were normal thereby prompting genetic analysis of α- and β-globin mutations. The first mutation in a BRE motif of the β-globin gene in the proband, sibling and the mother was identified. The p...

journal_title：Hemoglobin

authors： Inati A,Abbas HA,Al-Danaf J,Souaid M,Kahale M,Koussa S,Abou Nasr T,Davis L,Luo HY,Chui DH

更新日期：2013-01-01 00:00:00

abstract：:Building on the pioneering efforts of Professor Huisman, several different databases of hemoglobin variants have been developed, each with progressively increased capacity for sophisticated queries and prompt updating. These resources are reviewed in the context of a larger plan for providing related resources on hemo...

journal_title：Hemoglobin

authors： Hardison RC,Chui DH,Riemer C,Giardine B,Lehväslaiho H,Wajcman H,Miller W

更新日期：2001-05-01 00:00:00

abstract：:The aim of this study was to determine the hematological characteristics in a large group of Hb H (β4) patients with or without a coexisting β-thalassemia (β-thal), identified by a thalassemia screening program in mainland China. A total of 361 patients with Hb H disease were found, including 343 with deletional types...

journal_title：Hemoglobin

authors： Chen GL,Jiang F,Li J,Zhou JY,Li DZ

更新日期：2018-01-01 00:00:00

abstract：:β-Thalassemia (β-thal), is an autosomal recessive disorder caused by mutations at the β gene locus. β-Thalassemia major (β-TM) is a severe form of the disease, characterized by severe hypochromic and hemolytic anemia with an increased need for transfusion. Hemolysis is caused by intoxication, whereas mechanical remova...

journal_title：Hemoglobin

authors： Obaid JM,Abo El-Nazar SY,Ghanem AM,El-Hadidi AS,Mersal BH

更新日期：2015-01-01 00:00:00

abstract：:We studied the structural environment surrounding the beta-N-terminal glycation site of a hemoglobin (Hb) molecule in which the proline residue at beta5(A2) was substituted by alanine in silico. By computer analysis that used Protein Data Bank data (PDB ID: 1BZ0), we tried to clarify the reason for impaired glycation ...

journal_title：Hemoglobin

authors： Ito S,Nakahari T,Yamamoto D

更新日期：2010-01-01 00:00:00

abstract：:Patients with the β0/β0 type of β-thalassemia (β-thal) usually present as β-thal major (β-TM), and are transfusion-dependent. However, the clinical and hematological features of β-thal can be modulated by different modifiers, resulting in a wide range of clinical severity even in patients with the same genotypes. We r...

journal_title：Hemoglobin

authors： Xie XM,Liu YN,Li J,Jiang F,Li DZ

更新日期：2019-03-01 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：:The restriction endonuclease map of the alpha and beta globin genomic region of the new human erythroleukemia line, HEL, was compared with that of normal human DNA. The HEL line, which produces mainly fetal (G gamma and A gamma) but no adult (delta and beta) globin chains, was shown to have the same pattern of DNA fra...

journal_title：Hemoglobin

authors： Mueller RF,Murray JC,Gelinas R,Farquhar M,Papayannopoulou T

更新日期：1983-01-01 00:00:00

abstract：: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 orig...

journal_title：Hemoglobin

authors： Rentería-López VM,Perea-Díaz FJ,Rizo-delaTorre LC,Sánchez-López JY,Ibarra-Cortés B

更新日期：2017-05-01 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

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：: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：: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：:We report the spectrum of β-thalassemia (β-thal) mutations observed in a cohort of at-risk couples, who presented for prenatal diagnosis at the Thalassemia, Hemophilia and Prenatal Diagnosis Genetic Research Center, Shiraz Medical University, Fars, Iran, from March 2001 to April 2002. Using polymerase chain reaction-a...

journal_title：Hemoglobin

authors： Rahiminejad MS,Zeinali S,Afrasiabi A,Valeshabad AK

更新日期：2011-01-01 00:00:00

abstract：:Our understanding of the molecular and pathophysiological mechanisms underlying the disease process in patients with thalassemia intermedia (TI) has substantially increased over the past decade. TI encompasses a wide clinical spectrum of beta-thalassemia phenotypes. Some TI patients are asymptomatic until adult life, ...

journal_title：Hemoglobin

authors： Cappellini MD,Musallam KM,Taher AT

更新日期：2009-01-01 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：:The problem of spinal cord compression (SCC) related to extramedullary hematopoiesis (EMH) in beta-thalassemia (beta-thal) patients, both clinically and radiologically and its correlation with laboratory parameters of anemia and hemosiderosis was assessed. Sixty beta-thal patients were included and divided into group ...

journal_title：Hemoglobin

authors： Tantawy AA,Adly AA,Mahdy SA,Kamel GZ

更新日期：2009-01-01 00:00:00