"Alpha-thalassemia"

Third-generation sequencing identified a novel complex variant in a patient with rare alpha-thalassemia. Thalassemias represent some of the most common monogenic diseases worldwide and are caused by variations in human hemoglobin genes which disrupt the balance of synthesis between the alpha and beta globin chains. Thalassemia gene detection technology is the gold standard to achieve accurate with rare alpha-thalassemia. Our study identified a novel complex variant that expands the thalassemia gene variants spectrum. Meanwhile, the study suggests that TGS could effectively improve the specificity of thalassemia gene detection, and has promising potential for the discovery of novel thalassemia genotypes, which could also improve the accuracy of genetic counseling. Couples who are thalassemia

Sickle Trait and Alpha Thalassemia Increase NOS-Dependent Vasodilation of Human Arteries Through Disruption of Endothelial Hemoglobin-eNOS Interactions. Severe malaria is associated with impaired nitric oxide (NO) synthase (NOS)-dependent vasodilation, and reversal of this deficit improves survival in murine models. Malaria might have selected for genetic polymorphisms that increase endothelial

The Best Cutoff Value of Middle Cerebral Artery Peak Systolic Velocity for the Diagnosis of Fetal Homozygous Alpha Thalassemia-1 Disease. To determine the best cutoff value of middle cerebral artery peak systolic velocity (MCA-PSV) for the diagnosis of fetuses with homozygous alpha thalassemia-1 disease. Pregnancies at risk for fetal homozygous alpha thalassemia-1 disease at 18 to 22 weeks were recruited. MCA-PSV was measured before cordocentesis for hemoglobin typing and complete blood count. The performance of the MCA-PSV for identifying affected fetuses was evaluated using a best cutoff value derived from the receiver operating characteristic (ROC) curve. Among 142 fetuses at risk, 46 (32.4%) fetuses were diagnosed as affected by homozygous alpha thalassemia-1 disease and were categorized

Co-inheritance of alpha thalassemia dramatically decreases the risk of acute splenic sequestration in a large cohort of newborns with hemoglobin SC.

Expression and prognostic impact of alpha thalassemia/mental retardation X-linked and death domain-associated protein in human lung cancer. Molecular characterization of lung cancer specimens after radical surgery offers additional prognostic information and may help to guide adjuvant therapeutic procedures. The transcriptional regulators alpha thalassemia/mental retardation X-linked (ATRX

A large intrathoracic extramedullary hematopoiesis in alpha-thalassemia: A case report. Extramedullary hematopoiesis (EMH) is a rare disease characterized by the formation of hematopoietic elements outside the bone marrow driven by several hematological disease. To the best of our knowledge, EMH is relatively common in patient with beta-thalassemia or hereditary spherocytosis but rarely reported in patients with alpha-thalassemia. Here, we discuss a large intrathoracic EMH (measuring 95 mm × 66 mm) without presenting severe complications in alpha-thalassemia along with literature review. A 55-year-old Chinese female patient with alpha-thalassemia presented with ipsilateral pleural effusion and low hemoglobin level. Lung cancer was suspected at first and the mass was subjected to CT-guided

Alpha Thalassemia/Mental Retardation Syndrome X-Linked, the Alternative Lengthening of Telomere Phenotype, and Gliomagenesis: Current Understandings and Future Potential Gliomas are the most common primary malignant brain tumor in humans. Lower grade gliomas are usually less aggressive but many cases eventually progress to a more aggressive secondary glioblastoma (GBM, WHO Grade IV), which has a universally fatal prognosis despite maximal surgical resection and concurrent chemo-radiation. With the identification of molecular markers, however, there is promise for improving diagnostic and therapeutic strategies. One of the key molecular alterations in gliomas is the alpha thalassemia/mental retardation syndrome X-linked (ATRX) gene, which is frequently mutated. One-third of pediatric GBM cases

Epitope mapping of an anti-alpha thalassemia/mental retardation syndrome X-linked monoclonal antibody AMab-6 The alpha-thalassemia/mental-retardation-syndrome-X-linked (ATRX) gene is located on the q arm of the X chromosome. ATRX gene mutations were first discovered in pancreatic neuroendocrine tumors, and subsequently in other cancer subtypes, including gliomas. Molecular subgrouping of gliomas

An Observational Study of the Effect of Hemoglobinopathy, Alpha Thalassemia and Hemoglobin E on P. Vivax Parasitemia The protective effect of α-thalassemia, a common hematological disorder in Southeast Asia, against malaria has been well established. However, there is much less understanding of the effect of α-thalassemia against . Here, we aimed to investigate the proportion of α-thalassemia in heterozygous HbE patients (=0.046). Alpha-thalassemia trait is associated with high levels of parasitemia in malaria patients in Southeast Asia.

Variability in State-Based Recommendations for Management of Alpha Thalassemia Trait and Silent Carrier Detected on the Newborn Screen. We conducted an inventory of state-based recommendations for follow-up of alpha thalassemia silent carrier and trait identified on newborn screen. We found wide variability in the nature and timing of these recommendations. We recommend a standardized

Fetal isovolumetric time intervals as a marker of abnormal cardiac function in fetal anemia from homozygous alpha thalassemia-1 disease. To determine whether fetal isovolumetric time intervals can be an early sonographic marker of fetal anemia in fetuses with homozygous alpha thalassemia-1. Pregnancies at risk for fetal homozygous alpha thalassemia-1 disease at 18-22 weeks were recruited before cordocentesis for hemoglobin typing. Isovolumetric contraction time (ICT) and isovolumetric relaxation time (IRT) intervals were measured by placing pulsed wave Doppler sample volume within the left ventricle to obtain the mitral and aortic waveform. Time intervals were compared between the affected group of homozygous alpha thalassemia-1 fetuses and the unaffected group. Among 70 fetuses at risk, 28 cases

A retinopathy in young patient with co-inheritance of heterozygous alpha + -thalassemia and sickle trait: a case report. The retinopathy is an uncommon complication in individuals with sickle cell trait except for the cases of sickle cell trait associated with systemic arterial hypertension, diabetes mellitus, syphilis, tuberculosis and sarcoidosis. A retinopathy in a 16 year-old child with no history of consanguinity in the parents revealed a sickle S trait associated to heterozygous alpha thalassemia. His mother has Sickle cell anaemia (Hb SS) and his father is a carrier of heterozygous alpha-thalassemia status that it was unknown before. This case report describes a proliferative retinopathy in a 16 year-old patient with co-inheritance of heterozygous alpha + -thalassemia and sickle trait.

Sickle-cell and alpha-thalassemia traits resulting in non-atherosclerotic myocardial infarction: Beyond coincidence? Alpha-thalassemia trait and sickle trait are not commonly considered risk factors of ischemic heart disease. We report the case of a non-atherosclerotic silent myocardial infarction in a 46-year-old woman, carrier of the alpha-thalassemia trait (homozygous deletion of locus -3.7 . This case allows us to discuss cardiovascular risk among patients presenting with both alpha-thalassemia trait and sickle cell trait and the indication of cardiac imagery in such patients even when considered as low-cardiovascular risk.

Impact of genotype on endocrinal complications of Children with Alpha-thalassemia in China Alpha-thalassemia occurs with high frenquency in China. Four common α-globin gene deletion mutations (-SEA, -α3.7, and -α4.2, Haemoglobin Constant Spring (CS) mutation) were identified in Chinese patients. Individuals with alpha-thalassemia syndrome are more often of children. However report on endocrinal complications in children with alpha thalassemia in China are still absent. The present study aimed to investigate the impact of genotype on endocrinal complications in Chinese children. Association analysis between genotype and endocrinal compliaction development was conducted on 200 patients with 200 healthy controls. Hypogonadism was found to be the most prominent endocrinal complications (84.0%) leading

Cut-Off Values of Hematologic Parameters to Predict the Number of Alpha Genes Deleted in Subjects with Deletional Alpha Thalassemia Most α-thalassemia cases are caused by deletions of the structural α-globin genes. The degree of microcytosis and hypochromia has been correlated with the number of affected α-globin genes, suggesting a promising role of hematologic parameters as predictive

Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome Alpha thalassemia/mental retardation X-linked syndrome (ATR-X) is caused by a mutation at the chromatin regulator gene . The mechanisms involved in the ATR-X pathology are not completely understood, but may involve epigenetic modifications. ATRX has been linked to the regulation

Genetic Profile of Alpha Thalassemia Children at Sohag University Hospital . Genetic profile of alpha thalassemia children at sohag university hospital ,the aim to determine the prevelance , molecular character of the disorder, characterized by decreased synthesis of alpha -globin Recent work to provide mechanisms for phenotypic heterogeneity .

Efficiency Assessment of Immunochromatographic Strip Test for the Diagnosis of Alpha-Thalassemia-1 Carriers The prevention and control of thalassemia in Thailand focus on the appropriate diagnosis with a simple, cheap, and practical tool for any staff to use. (1) To screen alpha-thalassemia-1 carriers among pregnant women and spouses by immunochromatographic (IC) strip test and one tube osmotic test to specify alpha-thalassemia carriers. Another set of the specimens was sent for testing using hemoglobin (Hb) typing for thalassemia and abnormal Hb carriers and using multiplex polymerase chain reaction for alpha-thalassemia-1 carriers diagnosis as a gold standard. There were 27 cases found as positive for alpha-thalassemia including alpha-thalassemia-1 carriers, South East Asian type, alpha

Alpha thalassemia among sickle cell anaemia patients in Kampala, Uganda Sickle cell anaemia is prevalent in sub Saharan Africa. While α+-thalassaemia is known to modulate sickle cell anaemia, its magnitude and significance in Uganda have hitherto not been described. To determine the prevalence of α+thalassaemia among sickle cell anaemia patients in Mulago Hospital and to describe the clinical ) of those with α+thalassaemia were heterozygous (αα/α-). Amongst the patients older than 60 months, 15 (83.3%) of those without αα+thalassaemia had significant hepatomegaly of greater than 4 cm compared to 36 (45.6%) of those with α+thalassaemia (p=0.003). The gene frequency of (-α) of 0.425 noted in this study is higher than that reported from many places in Africa. Concurrent alpha thalassemia might

Evaluation of Alpha-Thalassemia Mutations in Cases with Hypochromic Microcytic Anemia: The Ä°stanbul Perspective Alpha thalassemia syndromes are caused by mutations on one or more of the four α-globin genes. Mutations could be either more commonly deletional or non-deletional. As some deletions (3.7 and 4.2) cause α+-thalassemia, some cause (-20.5, MED, THAI, FIL) α0 -thalassemia. The aim of this study was to determine alpha thalassemia mutations in patients with unsolved hypochromic microcytic anemia and to evaluate types of mutations. Two hundred six patients with hypochromic microcytic anemia were evaluated for alpha thalassemia. A venous blood sample of 2 mL was drawn from each patient for DNA isolation. The samples were investigated for α-thalassemia mutations by using the Vienna Lab α