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Ajit C Gorakshakar, Pearl V Breganza, Stacy P Colaco, Roshan F Shaikh, Meenu Y Bohra, Pratibha M Sawant, Anita H Nadkarni, Roshan B Colah, Kanjaksha K Ghosh
Genetic structure of the Indian population is influenced by waves of several immigrants from West Eurasia. Therefore, genetic information of various ethnic groups is valuable to understand their origins, the pattern of migration as well as the genetic relationship between them. No genetic data is available on Pathare Prabhu, which is a small indigenous Hindu community from Mumbai, Maharashtra State, India. The aim of this study was to screen the Pathare Prabhus for hemoglobinopathies, which is a major public health problem in India...
January 9, 2019: Hemoglobin
Marco Musso, Gian Luca Forni
Single point mutations or small deletions in the A γ - and G γ-globin gene promoter region are associated to the nondeletional hereditary persistence of fetal hemoglobin (HPFH). Currently, DNA sequencing is most common technique adopted for detection of hemoglobin (Hb) mutations. However, some can be rapidly detected because they either destroy or create a recognition site for a restriction enzyme. Here we show that the 4 bp deletion, HBG1: g.-225_-222delAGCA in the A γ-globin gene promoter can be easily detected using the Tru1I (MseI) restriction enzyme that cuts only in the absence of this deletion...
January 9, 2019: Hemoglobin
Aikaterini Zioga, Eleni Thanopoulou, Elissavet Hatzi, Nikolaos Chaliasos, Ioannis Georgiou, Alexandros Makis
Hb D-Los Angeles (or Hb D-Punjab) (HBB: c.364G > C) is found worldwide and is derived from a point mutation in the β-globin gene prevalent in the Punjab region of Northwestern India. Heterozygous or homozygous inheritance does not cause significant medical problems, whereas association with other hemoglobinopathies, especially β-thalassemia (β-thal) and sickle cell disease, changes the phenotype. Coinheritance of Hb D-Los Angeles with Hb H disease (α-/- -) has never been reported before. The presence of this rare combination in a family of Greek origin is herein described, and the challenges involving clinical management are discussed...
January 9, 2019: Hemoglobin
Graham R Serjeant, Beryl E Serjeant, Karlene P Mason, Margit Happich, Andreas E Kulozik
Over the last 43 years, surveys of over 200,000 subjects in Jamaica have identified β-thalassemia (β-thal) mutations. In most, these genes were detected at birth in patients with sickle cell-β-thal and so the prevalence and distribution would not be influenced by subsequent clinical course. There were two newborn populations, 100,000 deliveries in the corporate area between 1973-1981 and 84,940 in south and western Jamaica between 2008-2016. A third population, which derived from the Manchester Project in central Jamaica, screened 16,612 secondary school children, aged predominantly 15-19 years, and identified 150 students with the β-thal trait and 11 with sickle cell [Hb S (HBB: c...
January 9, 2019: Hemoglobin
Efthymia Vlachaki, Eleni Gavriilaki, Katerina Kafantari, Despoina Adamidou, Dimitris Tsitsikas, Eleni Chasapopoulou, Achilles Anagnostopoulos, Apostolos Tsapas
Delayed hemolytic transfusion reaction (DHTR) is a life-threatening complication in patients with sickle cell disease, characterized by difficulties in diagnosis and management. Certain reports have suggested successful salvage treatment with the terminal complement inhibitor, eculizumab. We here report evidence of complement activation and successful complement inhibition with one dose of eculizumab in an adult sickle cell disease patient presenting DHTR with hyperhemolysis. A 21-year old female sickle cell disease patient [Hb S (HBB: c...
January 9, 2019: Hemoglobin
You-Qiong Li, Jin-Hua Wei, Liang Liang
Hb A2 (α2δ2) is one of the key components looked for in hemoglobinopathies screening programs. Therefore, quantitative and accurate method for Hb A2 value determination is essential for routine screening. Here, we report a case of Hb A2 and Hb Constant Spring (Hb CS, HBA2: c.427T>C) with Hb H-Hb CS disease that was not detected by high performance liquid chromatography (HPLC), while Hb A2 and Hb CS were clearly quantified by capillary electrophoresis (CE).
January 9, 2019: Hemoglobin
Hafiza Alauddin, Khairina Kamarudin, Tang Yee Loong, Raja Zahratul Azma, Azlin Ithnin, Norunaluwar Jalil, Noor-Farisah Razak, Danny Koh-Xuan-Rong, Endom Ismail, Loh C-Khai, Zarina Abdul Latiff, Hamidah Alias, Ainoon Othman
Nondeletional α-globin mutations are known to cause more serious clinical effects than deletional ones. A rare IVS-I-1 (G>A) (HBA2: c.95+1G>A) donor splice site mutation interferes with normal splicing of pre mRNA and results in activation of a cryptic splice site as well as a frameshift mutation. Hb Adana [HBA2: c.179G>A (or HBA1)] is a highly unstable variant hemoglobin (Hb) resulting from a mutation at codon 59 on the HBA2 or HBA1 gene, recognized to cause severe α-thalassemia (α-thal) syndromes...
January 9, 2019: Hemoglobin
Gui-Lan Chen, Fan Jiang, Jian Li, Jian-Ying Zhou, Dong-Zhi Li
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 and 18 with nondeletional types. β-Thalassemia was found in 28 (7.8%) out of the 361 Hb H cases, and all of the 28 cases had the deletional type of Hb H disease. Lower hemoglobin (Hb) levels were detected in cases with the nondeletional type compared to those in cases with the deletional type...
January 7, 2019: Hemoglobin
Sheng He, Qian Qin, Li Lin, Yangjin Zuo, Qiuli Chen, Honghwei Wei, Chenguang Zheng, Biyan Chen, Xiaoxia Qiu
β-Thalassemia (β-thal) is one of the most common autosomal recessive disorders worldwide. It is caused mainly by point mutations or, more rarely, deletions on the β-globin gene, leading to reduced (β+ ) or absent (β0 ) synthesis of the β chains of hemoglobin (Hb). Molecular characterization of β-thal is essential for the prevention of this disease in the population. In China, more than 46 different mutations have been found, while approximately five large deletional types of β-thal have been reported...
January 7, 2019: Hemoglobin
An-Ping Xu, Wei-Dong Chen, Jie Li, Yu Zhou, Ruo-Yang Zheng, Xiaofeng Li, Ling Ji
We report a novel α2-globin chain hemoglobin (Hb) variant in a 23-year-old female of Chinese Han nationality. The Hb variant can be detected by glycated Hb electrophoresis (CapillaryS2, Hb A1c program). However, Hb fractions analyzed by capillary electrophoresis (CE) (CapillaryS2, Hb program) and high performance liquid chromatography (HPLC), (VARIANT II™ β-Thalassemia Short Program) showed no suspicious Hb variant. Sanger sequencing revealed a novel mutation [α67(E16)Thr→Ile, HBA2: c.203C>T]. We named this novel variant Hb Sichuan after the geographic origin of the proband...
January 7, 2019: Hemoglobin
Sirisha Kundrapu, Nafiseh Janaki, Howard J Meyerson
We report an individual with a compound heterozygosity for Hb D-Ibadan (HBB: c.263C>A) and Hb C (HBB: c.19G>A), a hemoglobin (Hb) combination not previously identified. The compound hemoglobinopathy was detected in a young woman during routine prenatal screening. Variant Hbs were identified and confirmed by high performance liquid chromatography (HPLC) and capillary electrophoresis (CE) followed by Sanger DNA sequencing. Hb D-Ibadan was present in significant excess over Hb C (70.3 to 24.4%). A complete blood count (CBC) revealed moderate microcytosis with slight anemia...
January 3, 2019: Hemoglobin
Marie Sabrie, Giovanna Cannas, Karim Tazarourte, Solène Poutrel, Philippe Connes, Arnaud Hot, Céline Renoux, Jihane Fattoum, Philippe Joly
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 to 60 years, one to six hospitalizations each) were recorded; we investigated the associations between qualitative and quantitative opioid requirements and several biological, clinical, epidemiological and genetic parameters...
January 3, 2019: Hemoglobin
Karen G Scheps, Viviana Varela, Héctor M Targovnik
Hemoglobin (Hb) synthesis is a complex, well-coordinated process that requires molecular chaperones. These intervene in different steps: regulating epigenetic mechanisms necessary for the adequate expression of the α- and β-globin clusters, binding the nascent peptides and helping them acquire their native structure, preventing oxidative damage by free globin chains and preventing the cleavage of essential erythroid transcription factors. This study analyzed the distribution of the single nucleotide polymorphism (SNP) rs4296276 in intron 1 of the α-globin chaperone α Hb-stabilizing protein (AHSP) in the Argentinean population...
December 17, 2018: Hemoglobin
Stamatia Theodoridou, Nikolaos Prapas, Angeliki Balassopoulou, Effrossyni Boutou, Timoleon-Achilleas Vyzantiadis, Despoina Adamidou, Evangelia-Eleni Delaki, Eleni Yfanti, Marina Economou, Αikaterini Teli, Olga Karakasidou, Evangelia Skatharoudi, Theodoros Theodoridis, Ersi Voskaridou
Hemoglobinopathies constitute the most frequent monogenic disorders worldwide and in Greece. In Greece, carrier frequency is estimated at about 8.0%, resulting in a heavy disease burden in the past. Therefore, the implementation of a national prevention program of the disease was an urgent necessity. Moreover, due to migration flow from different geographic areas in the last two decades, the observed spectrum of underlying mutations was expanded, leading to the adaptation of diagnostic approaches. We report the results of the National Thalassaemia Prevention Programme in Northern Greece, over a 15-year period (2001-2015)...
December 3, 2018: Hemoglobin
Narjes Sargolzaie, Mostafa Montazer Zohour, Erfan Ayubi, Fahimeh Shahraki
Little is known about the social determinants of health (SDH) of taking the prenatal diagnosis (PND) test as a pivotal strategy to prevent occurrences of β-thalasssemia major (β-TM). This study sought to evaluate the relationship between socio-demographic characteristics of parents and taking the PND test at Zahedan, Iran from 2015 to 2016. The design of the present study was a case-control. Data on socio-demographic characteristics of parents including age, education, job, ethnicity, and family relationships, kind of marriage as well as pre marriage test status and PND test status, were obtained from registered medical records...
November 29, 2018: Hemoglobin
Preetinanda M Dash, Praveen K Sahu, Siris Patel, Ranjeet S Mashon, Kiran R Kharat, Malay B Mukherjee
Hemoglobinopathies and thalassemias are the most commonly encountered monogenic disorders of blood in humans, posing a major genetic and public health problem round the globe. Hb S (HBB: c.20A>T)-β-thalassemia (β-thal) is a compound aberrant heterozygosity with inconsistent phenotypic expression, which are poorly described and clinically mapped. Comprehensive genetic characterization of such a population is highly warranted for complete understanding of the clinical heterogeneity, disease prognosis and therapeutic management...
November 29, 2018: Hemoglobin
Qiang Li, Yihong Li, Mei Zhong, Victor Wei Zhang, Wangjie Jin, Shaoyuan Li, Liyan Li
Despite the milder clinical severity of Hb H patients compared with those of Hb Bart's hydrops fetalis or patients with β-thalassemia major (β-TM), a few cases of Hb H hydrops fetalis syndrome have been reported so far. Here, we describe, for the first time in the Chinese population, one case of a neonate with Hb H hydrops fetalis syndrome caused by the - -SEA (Southeast Asian) deletion in combination with the Hb Hirosaki (HBA2: c.132C>G, p.Phe43Leu) mutation. Our study highlights the importance of continuous fetal monitoring using ultrasonography and blood screening studies of fetuses...
November 29, 2018: Hemoglobin
Seyedeh Sedigheh Abedini, Fatemeh Forouzesh Pour, Keyvan Karimi, Zhila Ghaderi, Samaneh Farashi, Ameneh Tavakoli Koudehi, Homeira Javadi Pirouz, Seyedeh Bahareh Mobini Nejad, Azita Azarkeivan, Hossein Najmabadi
Numerical variation in α-globin genes is very important due to their roles as an effective factor for phenotype presentation. An unequal crossover from misalignment of a homologous sequence of an α-globin gene during meiosis can produce a numerical alteration. A single α-globin gene deletion is the most frequent mutation in α-thalassemia (α-thal) worldwide, while the additional α-globin chain is relatively common. The excess α-globin gene plays a critical role in pathophysiology of thalassemia, especially when in coinherited with β-thalassemia (β-thal)...
November 19, 2018: Hemoglobin
Ilham Youssry, Ayman El Badawy, Rania M Samy, Niveen Salama, Dalia Abd Elaziz, Samia Rizk
Hemoglobinopathies are the most common monogenic diseases in the world, causing many health problems worldwide. In Egypt, thalassemia is the most common cause of chronic hemolytic anemia and correlated with significant morbidity and mortality. One thousand Egyptian newborns were screened to detect α-thalassemia (α-thal) deletions using polymerase chain reaction (PCR)-based DNA analysis of cord blood samples. Ninety-one cases (9.1%) of the studied samples were proved to have at least one of the α genes deleted and 851 cases (85...
November 13, 2018: Hemoglobin
Gunay Aliyeva, Chingiz Asadov, Tahira Mammadova, Shirkhan Musayev, Eldar Abdulalimov, Surmaya Gafarova, Yegana Guliyeva
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 data of the heterozygous parents.
November 13, 2018: Hemoglobin
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