Abstract:
:β-Thalassemia (β-thal) is one of the most common genetic disorders in Turkey. In this study, we investigated the mutations and frequency of β-thal at the molecular level in pediatric β-thal patients in the Çukurova region. The β-thal mutations of 52 cases were analyzed. An automated blood cell counter was used for hematological data. Cellulose acetate electrophoresis and high performance liquid chromatography (HPLC) methods were used for hemoglobin (Hb) typing. Amplification refractory mutation system (ARMS), restriction fragment length polymorphism (RFLP), gap-polymerase chain reaction (gap-PCR) and DNA sequencing analysis methods were used to determine genomic features. In this study, we found that 36 subjects carried homozygous mutations [IVS-I-110 (G>A) (HBB: c.93-21G>A) (58.3%), codon 8 (-AA) (HBB: c.25_26delAA) (5.6%), -30 (T>A) (HBB: c.-80T>A) (5.6%), IVS-I-6 (T>C) (HBB: c.92+6T>C) (5.6%) and IVS-II-1 (G>A) (HBB: c.315+1G>A) (5.6%)]. We found that 13 subjects carried compound heterozygosities for IVS-I-110/IVS-I-6 (15.4%) and IVS-I-110/frameshift codon (FSC) 44 (-C) (HBB: c.135delC) (15.4%). We observed that the Syrian subject also carried a compound heterozygosity for IVS-I-6/IVS-I-25 (-25 bp) (HBB: c.93_21del). We determined that the most frequently observed β-thal mutation in the Çukurova region, where various types of hemoglobinopathies have been observed, is the IVS-I-110 mutation. As the prevalence of the disease will affect the region where the immigrant population is dense, population screening and prenatal diagnosis (PND) should be increased and the public should be made aware of the consequences.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Guzelgul F,Seydel GS,Aksoy Kdoi
10.1080/03630269.2020.1792489subject
Has Abstractpub_date
2020-07-01 00:00:00pages
249-253issue
4eissn
0363-0269issn
1532-432Xjournal_volume
44pub_type
杂志文章相关文献
HEMOGLOBIN文献大全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
pub_type: 杂志文章
doi:10.3109/03630268908998083
更新日期:1989-01-01 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
pub_type: 杂志文章
doi:10.1080/03630260802004483
更新日期:2008-01-01 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::Hb F levels in beta-thalassemia heterozygotes are usually less than 2%, but amongst 1,059 patients studied, 73 (7%) had Hb F levels above 2.5% (2.6-14.0%). To investigate factors that may influence the increase of Hb F levels in these heterozygotes, we characterized the beta-thalassemia mutations and their chromosomal...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630260008997528
更新日期:2000-08-01 00:00:00
abstract::Anti-Lepore hemoglobins (Hbs) are rare βδ fusion variants that arise from non homologous crossover during meiosis. We describe the application of multiplex ligation-dependent probe amplification (MLPA) to test for a suspected anti-Lepore Hb in an individual with an ambiguous Hb variant detected on routine screening by...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2012.660901
更新日期:2012-01-01 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
pub_type: 杂志文章
doi:10.3109/03630269.2013.780248
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
pub_type: 杂志文章
doi:10.3109/03630268609042845
更新日期:1986-01-01 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
pub_type: 杂志文章
doi:10.3109/03630269.2012.718309
更新日期:2012-01-01 00:00:00
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
pub_type: 杂志文章
doi:10.3109/03630267709003422
更新日期:1977-01-01 00:00:00
abstract::This paper summarizes the results on the epidemiology and molecular basis of thalassemias and other hemoglobinopathies in the Republic of Macedonia. Over the past 40 years, population surveys of more than 22,000 participants (school children and workers) from all over the country, have shown that the average incidence...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260601056726
更新日期:2007-01-01 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::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::A review is presented of the various beta-thalassemia alleles observed in nearly 191 patients with beta-thalassemia major and their 182 heterozygous relatives. Determination was by gene amplification and dot-blot hybridization with synthetic probes, specific for 27 different mutations. Eighteen mutations have been obs...
journal_title:Hemoglobin
pub_type: 杂志文章,评审
doi:10.3109/03630269009002250
更新日期:1990-01-01 00:00:00
abstract::Sickle cell disease is characterized by intermittent painful crises often requiring treatment in the emergency department (ED). Past examinations of time-to-provider (TTP) in the ED for patients with sickle cell disease demonstrated that these patients may have longer TTP than other patients. Here, we examine TTP for ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630269.2016.1232272
更新日期:2016-09-01 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
pub_type: 杂志文章
doi:10.1081/hem-200037796
更新日期:2004-01-01 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
pub_type: 杂志文章
doi:10.3109/03630269.2012.746230
更新日期:2012-01-01 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
pub_type: 临床试验,杂志文章
doi:10.3109/03630269.2014.909365
更新日期:2014-01-01 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
pub_type: 杂志文章
doi:10.3109/03630269.2012.686257
更新日期:2012-01-01 00:00:00
abstract::Necrobiosis lipoidica (NL) is a rare granulomatous disease that predominantly affects middle-aged women and is often associated with diabetes mellitus (DM), rheumatoid arthritis (RA) and other metabolic disorders. Thalassemias are the most common hereditary hemoglobin (Hb) disorders worldwide. A few studies investigat...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630269.2020.1783287
更新日期:2020-05-01 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
pub_type: 杂志文章
doi:10.3109/03630268008996221
更新日期:1980-01-01 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::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
pub_type: 杂志文章
doi:10.1080/03630269.2019.1710530
更新日期:2020-01-01 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
pub_type: 杂志文章
doi:10.1080/03630269.2019.1597732
更新日期:2019-01-01 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::We report the molecular and hematological characteristics of two rare hemoglobin (Hb) variants found in associations with a common α(0)-thalassemia (α(0)-thal) in Thai patients. The first case (P1) was a generally healthy 27-year-old man discovered during our ongoing thalassemia screening program. Hemoglobin and DNA a...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630269.2012.747964
更新日期:2013-01-01 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
pub_type: 杂志文章
doi:10.3109/03630269.2015.1064004
更新日期:2015-01-01 00:00:00
abstract::The minor components of Hb Bart's were separated by CM-cellulose chromatography, reverse-phase HPLC, and DEAE-cellulose chromatography. These were characterized by amino acid analysis, tryptic peptide analysis by HPLC, electrophoresis, and carbohydrate and phosphate analysis. Acetylated and glycated components of Hb B...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.3109/03630268709042852
更新日期:1987-01-01 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 this study, 32 patients with Hb H (beta(4)) disease have been identified. Three different alpha-thalassemia-1 (thal) determinants; nine with the -17.4 kb (MED I) type, 12 with the -20.5 kb type and 10 with the -26.5 kb (MED II) type were characterized. Of the 32 patients, 19 had the 3.7 kb deletion and one had the ...
journal_title:Hemoglobin
pub_type: 杂志文章
doi:10.1080/03630260701297279
更新日期:2007-01-01 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
pub_type: 杂志文章
doi:10.3109/03630269.2012.669358
更新日期:2012-01-01 00:00:00