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Stamatia Theodoridou, Timoleon-Achilleas Vyzantiadis, Efthymia Vlachaki
The rare point mutation Cap +1570 (T>C) (HBB: c*96T>C) has been reported in families of Czech, Greek, Turkish and Italian origin. The mutation contributes to a reduction of the β-globin chain synthesis, and in heterozygous carriers, it causes a silent phenotype, while in compound heterozygosity with severe β-thalassemia (β-thal) mutations, it leads to a non transfusion dependent β-thal intermedia (β-TI) state. We report a case of compound heterozygosity for codon 39 (C>T) (HBB: c.118C>T) and Cap +1570, in addition to the presence of αααanti-3...
September 12, 2018: Hemoglobin
Fan Jiang, Yan-Xia Qu, Gui-Lan Chen, Jian Li, Jian-Ying Zhou, Lian-Dong Zuo, Can Liao, Dong-Zhi Li
Krüppel-like factor 1 (KLF1) is a pleiotropic erythroid transcription factor that is a regulator of definitive erythropoiesis. The aim of this study was to detect KLF1 gene variants in α-thalassemia (α-thal) carriers with an increased Hb F level in a Chinese population, and determine the changes of hematological parameters as a result of interactions between KLF1 gene mutations and α-thal. Subjects with α-thal and Hb F levels of ≥1.0% were selected for further investigation. Direct sequencing was used to detect KLF1 gene mutations...
September 12, 2018: Hemoglobin
Chaiwat Rerkswattavorn, Nongnuch Sirachainan, Duantida Songdej, Praguywan Kadegasem, Ampaiwan Chuansumrit
This retrospective study analyzed 27 children with preventable severe thalassemia born to 24 at-risk couples between 1997 and 2017. The couples were categorized into two groups: the prenatal diagnosis (PND) group (n = 8) and the non PND group (n = 16). In the PND group, following comprehensive counseling on having a fetus with thalassemia, six couples decided to continue the pregnancy (n = 6). Termination of the two remaining fetuses was excluded as the thalassemia status was reported at a gestational age of 24 weeks...
September 12, 2018: Hemoglobin
Sirinart Chomean, Kanokporn Pholyiam, Areenuch Thamwarokun, Chollanot Kaset
Detection of α-thalassemia-1 (α-thal-1) carriers provides valuable insight for genetic consulting in prevention and control programs for couples who are at risk of conceiving a fetus with severe thalassemia, both Hb Bart's hydrops fetalis and hemolytic Hb H disease. The traditional method is complicated, time-consuming and requires high instrument cost and expertise. Loop-mediated isothermal amplification (LAMP) based on pH-sensitive dye technology, shows all the characteristics required of a real-time analysis with simple operation for potential use in the clinical diagnosis of high incidence α-thal-1 [Southeast Asian (SEA) or - -SEA deletion]...
September 7, 2018: Hemoglobin
Faten Moassas, Ayman Alabloog, Hossam Murad
We present the description of a β-thalassemia (β-thal) -86 (C>G) (HBB: c.-136C>G) mutation in a Syrian family from Damascus, As-Suwayda Province, Syria, who was referred to the laboratory for prenatal diagnosis (PND). The mutation was found in the mother in a homozygous state, while it was in the father and in the amniotic fluid sample in a heterozygous state. This mutation is located at -86 within the proximal CACCC box in the promoter of the β-globin gene and is possibly linked with a phenotype of β+ -thal...
September 3, 2018: Hemoglobin
Gunay Aliyeva, Eldar Abdulalimov, Chingiz Asadov, Tahira Mammadova, Surmaya Gafarova, Yegana Guliyeva
The -92 (C>T) (HBB: c.-142C>T) is a silent β-thalassemia (β-thal) mutation previously described in combination with several β0 mutations and expressed as β-thal intermedia (β-TI). Heterozygous individuals are known to be completely asymptomatic showing borderline hemoglobin (Hb), mean corpuscular volume (MCV) and Hb A2 levels. Here, we report the first incidence of -92 in Eastern Europe and in Azerbaijan, and the first case in combination with codons 36/37 (-T) (HBB: c.112delT) mutation.
June 12, 2018: Hemoglobin
Aditya N Jha, Hrishikesh Mishra, Henu K Verma, Isha Pandey, Bhaskar V K S Lakkakula
Hemoglobinopathies evolved as a protective mechanism against malaria, which exhibit selective advantage in the heterozygous state. However, in a homozygous recessive condition, it poses a serious socioeconomic burden. Sickle cell anemia is an autosomal recessive hemoglobinopathy associated with erythrocytes sickling, vaso-occlusive crisis (VOC), as well as multi-organ failure and death. The coinheritance of other hemoglobinopathies is known to substantially modulate the clinical manifestation of sickle cell anemia...
March 2018: Hemoglobin
Noor M Khan, Shoaib Ur Rehman, Muhammad Shakeel, Saadullah Khan, Usman Ahmed, Hazir Rehman, Tabassum Yaseen, Asad Javid
β-Thalassemia (β-thal) is a monogenic disease characterized by mutations on the HBB gene, affecting the production of globin that results in hypochromic and microcytic anemia. The aim of this study was to determine the prevalence of six common β-thal mutations, and their frequency and inheritance pattern in affected populations of North Waziristan Agency, Pakistan. In this study, 130 blood samples from 37 unrelated β-thalassemic families having a minimum of one transfusion-dependent child with β-thal major (β-TM), were retrieved either from the Thalassaemia Centre for Women and Children Hospital Bannu or their home towns situated in Noth Waziristan Agency...
March 2018: Hemoglobin
Rim Belhaj Nefissi, Radhouene Doggui, Faida Ouali, Taieb Messaoud, Nasreddine Gritli
Sickle cell disease is a genetic disorder characterized by a hypercoagulable state. Several complications in this hemoglobinopathy are increased by thrombosis. Factor V Leiden (FVL), prothrombin (PRT) G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C mutations are major inherited risk factors of thrombotic complications. In this study, our aim was to compare the frequencies of these mutations in sickle cell patients with healthy controls. The study population comprised 35 homozygous Hb S (HBB: c...
March 2018: Hemoglobin
Florinda Listì, Serena Sclafani, Veronica Agrigento, Rita Barone, Aurelio Maggio, Elena D'Alcamo
The hemoglobinopathies, as β-thalassemia (β-thal) and sickle cell disease, are the most common hereditary hemolytic anemias. The increase of fetal hemoglobin (Hb F) levels can ameliorate the symptoms of hemoglobinopathies. There are several transcription factors such as MYB and SOX-6, which are involved in the regulation of Hb F. There are not enough studies investigating the association between single nucleotide polymorphisms (SNPs) of the SOX-6 and MYB genes and the variation of Hb F levels in patients affected by sickle cell disease and β-thal...
March 2018: Hemoglobin
Turan Bayhan, Şule Ünal, Bahadır Konuşkan, Onur Erdem, Erdem Karabulut, Fatma Gümrük
Peripheral neuropathy is one of the complications of β-thalassemia (β-thal) that has been investigated in limited reports. We aimed to detect the rate of peripheral neuropathy and risk factors for neuropathy development in patients with β-thal. The study was performed in patients with β-thal intermedia (β-TI) or β-thal major (β-TM). Prospective electrophysiological studies were achieved via standard procedures. A total of 27 patients were enrolled in the study. Electrophysiological studies for both motor and sensory nerves were within normal range...
March 2018: Hemoglobin
Neil Van de Water, Tina Tan, Megan Crowley, Romy Kerr, Peter Browett
The choice of acceptor splice site during exon-exon splicing by the spliceosome is determined by a variety of factors. We report here a family with a novel acceptor splice site variant within intron 1 of the α-globin gene that provides some in vivo insight into the rules governing RNA splicing in homo sapiens. A 2-year-old female with Hb H disease, was found to have not only three α-globin genes deleted (- -FIL /-α3.7 ) but also a HBA2: c.96-5C>A variant on her remaining α-globin gene. The HBA2: c.96-5C>A variant was in cis with -α3...
March 2018: Hemoglobin
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No abstract text is available yet for this article.
March 2018: Hemoglobin
Runa M Grimholt, Cornelis L Harteveld, Sandra G J Arkesteijn, Bente Fjeld, Olav Klingenberg
Sequence variants located in the introns of the β-globin gene may affect the mRNA processing and cause β-thalassemia (β-thal). Sequence variants that change one of the invariant dinucleotides at the exon-intron boundaries may have fatal consequences for normal mRNA splicing. Intronic variants located far from obvious regulatory sequences can be more difficult to evaluate. There is a potential for misinterpretation of such sequence variants. Hence, thorough evaluation of patient data together with critical use of databases and in silico prediction tools are important...
March 2018: Hemoglobin
Runa M Grimholt, Anne Vestli, Petter Urdal, Anne Grete Bechensteen, Bente Fjeld, Bjørn Dalhus, Olav Klingenberg
Unstable hemoglobin (Hb) variants are the result of sequence variants in the globin genes causing precipitation of Hb molecules in red blood cells (RBCs). Intracellular inclusions derived from the unstable Hb reduce the life-span of the red cells and may cause hemolytic anemia. Here we describe a patient with a history of hemolytic anemia and low oxygen saturation. She was found to be carrier of a novel unstable Hb variant, Hb Oslo [β42(CD1)Phe→Ile (TTT>ATT), HBB: c.127T>A] located in the heme pocket of the β-globin chain...
March 2018: Hemoglobin
Pingsen Zhao, Ruiqiang Weng, Heming Wu
Thalassemia is one of the most prevalent inherited disorders in southern China. However, there have been few reports on molecular characterization of α- and β-thalassemia (α- and β-thal) in the large Hakka population living in Meizhou, a city with high incidence of thalassemia in China. A total of 11,631 in- and outpatients in the Hakka area were analyzed by DNA-based α- and β-thal testing. Of all the samples, 4280 mutant chromosomes were detected, accounting in a total of 35.98%, of which 2864 (24.82%) α-thal mutants were detected, 1268 (10...
March 2018: Hemoglobin
Stamatia Theodoridou, Aikaterini Teli, Eleni Yfanti, Timoleon-Achilleas Vyzantiadis, Theodoros Theodoridis, Marina Economou
Hb Adana (HBA2: c.179G>A) is found worldwide but is extremely rare and carriers are asymptomatic, with red cell indices similar to α+ -thalassemia (α+ -thal) carriers. First line screening tests are unable to detect the unstable hemoglobin (Hb). Coinheritance with the α-thal (-α3.7 ) deletion is herein presented and the challenges involving genetic counseling of couples carrying the mutations are discussed.
March 2018: Hemoglobin
Giovanna A O Arduini, Alessandra B Trovó de Marqui
Priapism is a pathological condition of persistent penile erection in the absence of sexual arousal or desire. It is an urological emergency and its identification is important as lack of prompt treatment can result in erectile dysfunction. The aim of this study was to estimate and describe the characteristics (number of episodes, duration, time of occurrence and evolution) of priapism in patients with sickle cell disease. A bibliographical research was carried out in PubMed, searching for papers published in the last 5 years...
March 2018: Hemoglobin
Shiva NickAria, Sezaneh Haghpanah, Mani Ramzi, Mehran Karimi
Globin switching is a significant factor on blood hemoglobin (Hb) level but its molecular mechanisms have not yet been identified, however, several quantitative trait loci (QTL) and polymorphisms involved regions on chromosomes 2p, 6q, 8q and X account for variation in the γ-globin expression level. We studied the effect of interaction between a region on intron six of the TOX gene, chromosome 8q (chr8q) and XmnI locus on the γ-globin promoter, chr11p on γ-globin expression in 150 β-thalassemia intermedia (β-TI) patients, evaluated by statistical interaction analysis...
March 2018: Hemoglobin
Mutaz Dana, Eitan Fibach
The major hemoglobin (Hb) during fetal life is fetal Hb (Hb F). It is mostly replaced by adult Hbs before birth and during the first year of life. In adults, where Hb F comprises <2.0% of the total Hb, it is not homogenously distributed among the red blood cells (RBCs) but is concentrated in a few RBCs, termed F-cells. Interestingly, for reasons that are unclear, Hb F increases in the maternal circulation during pregnancy. This increased Hb F could have two potential origins that are not mutually exclusive: A) maternal origin, due to inducing environment of Hb F in the maternal erythroid precursors; B) fetal origin, due to fetal cells crossing the placenta and entering the maternal circulation...
March 2018: Hemoglobin
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