Abstract:
:We report a novel mutation at alpha66(E15)Leu-->Pro (alpha2) (CTG-->CCG), that we have named Hb Dartmouth for the medical center at which the patients were cared for, in monozygotic twins who also inherited the Southeast Asian alpha-thalassemia-1 deletion. The mother, of Khmer ancestry, is heterozygous for alpha-thalassemia-1. The father, who is of Scottish-Irish ancestry, is a silent carrier of the codon 66 mutation. The twins had severe neonatal anemia requiring transfusion.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
McBride KL,Snow K,Kubik KS,Fairbanks VF,Hoyer JD,Fairweather RB,Chaffee S,Edwards WHdoi
10.1081/hem-100107874keywords:
subject
Has Abstractpub_date
2001-11-01 00:00:00pages
375-82issue
4eissn
0363-0269issn
1532-432Xjournal_volume
25pub_type
杂志文章相关文献
HEMOGLOBIN文献大全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
pub_type: 杂志文章
doi:10.3109/03630269.2012.746230
更新日期:2012-01-01 00:00:00
abstract::We have used the diaminofluorene stain to detect hemoglobin production in J2E cells following erythropoietin-induced differentiation. The pseudo-peroxidase activity of hemoglobin produces a colored product, fluorene blue, which can be measured spectrophotometrically. We found that the absorbance varied with time and c...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269509069725
更新日期:1995-01-01 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
pub_type: 杂志文章
doi:10.3109/03630269308997495
更新日期:1993-10-01 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
pub_type: 杂志文章
doi:10.3109/03630268208996940
更新日期:1982-01-01 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
pub_type: 杂志文章
doi:10.3109/03630268609042845
更新日期:1986-01-01 00:00:00
abstract::The major defect in α-thalassemia (α-thal) is a single or double gene deletion. The aim of this study was to evaluate the α-thal mutations in two provinces of Southern Iran, Fars & Kohkeloye and Bouyer Ahmad. A total of 2000 subjects with microcytic hypochromic anemia was selected as a study group; finally, 1177 subje...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2012.657729
更新日期:2012-01-01 00:00:00
abstract::Hb Hammersmith [β42(CD1)Phe → Ser; HBB: c.128T > C] is a rare, unstable hemoglobin (Hb) variant. In this case report, we describe another male case of Hb Hammersmith. A 39-year-old male had hemolytic anemia, cyanosis and splenomegaly since 6 months after birth. He passed the disease allele to his daughter, a 3-year-ol...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2014.880352
更新日期:2014-01-01 00:00:00
abstract::The identification of α-thalassemia (α-thal) due to point mutations has been increasing significantly with the advancement of molecular diagnostic tools. We describe here the molecular and cellular characteristics of the thalassemia mutation HBA2:c.94A>C, a novel point mutation affecting the α2-globin gene, causing a ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2012.670683
更新日期:2012-01-01 00:00:00
abstract::This work compiles the results of our research on alpha- and beta-thalassemias, and includes a literature review of the molecular genetics of alpha- and beta-thalassemias in Spain. We studied 1,564 subjects with thalassemia (294 with beta-thalassemia and 1,264 with alpha-thalassemia) by molecular biology techniques. I...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1081/hem-100105220
更新日期:2001-08-01 00:00:00
abstract::In order to determine the prevalence of thalassemia and hemoglobinopathies in different regions of northeast (NE) Thailand and Vientiane, Laos People's Democratic Republic (PDR), a total of 1,809 blood samples were collected consecutively from individuals attending antenatal care services at 11 community hospitals in ...
journal_title:Hemoglobin
pub_type: 杂志文章,多中心研究
doi:10.3109/03630269.2011.637149
更新日期:2012-01-01 00:00:00
abstract::Thalassemia is the most common genetic disorder in Iran. Some α-globin genotypes leading to Hb H disease may cause severe anemia and dependence on regular blood transfusions. In this study, 40 patients were analyzed for the molecular basis and the genotype-phenotype correlation of Hb H disease in Iran. α-Globin molecu...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2010.546314
更新日期:2011-01-01 00:00:00
abstract::Unstable hemoglobin (Hb) variants represent a rare etiology of congenital hemolytic anemia. Correct diagnosis can be a challenge due to the relative rarity or lack of awareness of this disorder. We report an 18-month-old girl, who presented with a long-standing hemolytic anemia. Her diagnosis of unstable Hb Perth [β32...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2016.1169423
更新日期:2016-06-01 00:00:00
abstract::The present study aimed at differentiating rare types of heterozygous beta-thalassemia (thal) with normal Hb A(2) values from alpha-thal in Iranian carriers by globin chain synthesis in addition to other hematological parameters. Our study groups consisted of 51 normal subjects, 24 heterozygous beta- thalassemic subje...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260701462006
更新日期:2007-01-01 00:00:00
abstract::The 5' untranslated region (5'UTR) of beta-globin has been well characterized and is often used as a model for eukaryotic transcription/translation, but there are still questions regarding the mechanism of translational control. Mutations affecting the Cap site at + 1 and at positions +10, +22, +33 and +40-43 have bee...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260701798375
更新日期:2008-01-01 00:00:00
abstract::Tyr35β is located at the convergence of the α1β1, α1β2 and α1α2 interfaces of Hb A. We here report a Chinese family in whom the codon 35 (A > G) (HBB: c.107A > G) mutation of the β-globin gene was not associated with the thalassemic phenotype previously described. ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2015.1099547
更新日期:2016-01-01 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
pub_type: 杂志文章
doi:10.3109/03630269.2011.601385
更新日期:2011-01-01 00:00:00
abstract::Among the causes of life-long cyanosis are congenital methemoglobinemia due to M hemoglobins, congenital methemoglobinemia due to methemoglobin reductase deficiency, a small number of low oxygen affinity hemoglobins, and a small number of unstable hemoglobins that spontaneously form methemoglobin in vivo at an acceler...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269908996157
更新日期:1999-05-01 00:00:00
abstract::Common alpha-thalassemia (thal) rearrangements were studied in a normal random population and in six ethnic groups of Pakistan. Analyses of 204 individuals from the normal population revealed the presence of only the -alpha(3.7) allele with an overall frequency of 8.3%. Ethnic differences were statistically significan...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1081/hem-120023379
更新日期:2003-08-01 00:00:00
abstract::High oxygen affinity hemoglobins (Hbs), characterized by a decreased ability to release oxygen to the tissues and a left-shifted oxygen dissociation curve, are a rare cause of secondary erythrocytosis. Here, we report a base substitution in the β-globin gene at codon 89 (AGT>AGG) in a kindred with familial erythrocyto...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630269.2019.1680382
更新日期:2019-01-01 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
pub_type: 杂志文章
doi:10.3109/03630269.2012.746942
更新日期:2013-01-01 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
pub_type: 杂志文章
doi:10.1080/03630269.2018.1528987
更新日期:2018-07-01 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
pub_type: 杂志文章
doi:10.1080/03630260903089177
更新日期:2009-01-01 00:00:00
abstract::The recently developed capability to separate and quantify each of several proteins concurrently in single red cells presents an opportunity to test for biological variations in intercellular distribution of a protein as well as the extent of correlation between quantities of gene products derived from a single cell g...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268508996996
更新日期:1985-01-01 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
pub_type: 杂志文章
doi:10.3109/03630260903337451
更新日期:2009-01-01 00:00:00
abstract::Thalassemias and hemoglobinopathies are very common among Southeast Asian populations, particularly in Thailand, where it is estimated that nearly 30% of the population carries at least one such disorder. Moreover, the heterogeneity of different mutant alpha- and beta-globin alleles contributes to the complexity in di...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260601059225
更新日期:2007-01-01 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
pub_type: 杂志文章
doi:10.1080/03630269.2020.1848859
更新日期:2020-11-01 00:00:00
abstract::The detection, quantitation, and characterization of five relatively rare beta chain abnormal hemoglobins mainly by high performance liquid chromatographic procedures are described. The variants involved are Hb City of Hope (beta 69 Gly----Ser), Hb Austin (beta 40 Arg----Ser), Hb Leiden (beta 6 or 7 Glu----0), Hb Loui...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268609072470
更新日期:1986-01-01 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
pub_type: 杂志文章
doi:10.1080/03630260701459432
更新日期:2007-01-01 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
pub_type: 杂志文章
doi:10.1080/03630269.2020.1784755
更新日期:2020-05-01 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
pub_type: 杂志文章
doi:10.3109/03630269.2013.772523
更新日期:2013-01-01 00:00:00