نتایج جستجو برای: thalassemia majorcardiac abnormalitiestei

تعداد نتایج: 20990  

Journal: :Blood 1989
M C Rosatelli L Oggiano G Battista Leoni T Tuveri A Di Tucci M T Scalas F Dore P Pistidda A Massa M Longinotti

We investigated the molecular basis for a mild phenotype in a group of patients with beta(+) thalassemia originating from Northern Sardinia by definition of the beta-thalassemia mutation, alpha-globin mapping and beta-globin haplotype determination. In nine patients, we detected the compound heterozygous state for the -87 promoter mutation and the codon 39 nonsense mutation; in one patient, we ...

Journal: :Archives of hematology case reports and reviews 2021

Beta thalassemia (β thalassemia) is a group of inherited blood disorders. Case report A 17-year old boy accompanied by medical support staff visited our Department for preventive and pediatric dentistry within the University Dental Center Ss.Pantelejmon in Skopje, due to dental pain which comes from first molar tooth(36) low jaw left side.

2005
H. Teal

a Thalassemia modifies the hematologic expression of homozygous sickle cell (55) disease, resulting in increased total hemoglobin and HbA2 and decreased HbF. mean cell volume, reticulocytes. irreversibly sickled cells. and bilirubin levels. The age at which these changes develop in children with 55 disease is unknown. Ascertainment of globin gene status in a large representative sample of child...

Journal: :Acta medica Indonesiana 2014
Teny T Sari Djajadiman Gatot Arwin A P Akib Saptawati Bardosono Sri R S Hadinegoro Alida R Harahap Ponpon S Idjradinata

AIM to describe non-spesific and specific immune response profile in Indonesian thalassemia major with and without splenectomy. METHODS this study was held at Thalassaemia Centre, Cipto Mangunkusumo Hospital Jakarta on September 2013-February 2014. A comparative cross sectional study was conducted in healthy, thalassemia major aged more than 12 year and seronegative HIV. They were matched in ...

2013
Eloísa Urrechaga Urko Aguirre Silvia Izquierdo

Introduction. Iron deficiency anemia and thalassemia are the most common causes of microcytic anemia. Powerful statistical computer programming enables sensitive discriminant analyses to aid in the diagnosis. We aimed at investigating the performance of the multiple discriminant analysis (MDA) to the differential diagnosis of microcytic anemia. Methods. The training group was composed of 200 β ...

2018
Mohammad Zamani Amin Vahedi Ahmad Tamaddoni Ali Bijani Mojgan Bagherzade Javad Shokri-Shirvani

Background Until now, no study has been reported investigating the association between β-thalassemia minor and Helicobacter pylori (H. pylori) infection. This study was designed to compare H. pylori infection rate between β-thalassemia minor patients and healthy controls. Methods A number of 100 β-thalassemia minor patients (50 males, 50 females) and 100 gender-matched healthy controls were p...

2014
Prasanta Purohit Snehadhini Dehury Siris Patel Dilip Kumar Patel

Inherited hemoglobin disorders like alpha thalassemia and sickle gene are common in the Indian subcontinent. These disorders in the heterozygous state act as malaria resistance genes and influence the susceptibility to Plasmodium falciparum malaria. There is inadequate knowledge about the epidemiology of these malaria resistance genes in the tribal dominated malaria endemic region of the state ...

Journal: :Turkish journal of haematology : official journal of Turkish Society of Haematology 2001
Z Bolaman Y Enli M Köseoğlu H Koyuncu D Aslan

Beta thalassemia, characterized by the deficiency or the absence of beta globulin production, is the most widespread inherited disorder in the world and is also common in Turkey. To determine the prevalence of carriers for beta thalassemia, we screened the couples before their marriage. For this aim, from 1994 to 1999, a total of 14.200 people were screened. The complete blood count and red blo...

Journal: :Haematologica 2008
Antonino Giambona Cristina Passarello Margherita Vinciguerra Rita Li Muli Pietro Teresi Maurizio Anzà Gaetano Ruggeri Disma Renda Aurelio Maggio

We report a retrospective analysis carried out on 23,485 subjects submitted to a screening program from 2000 to 2006. Of these subjects, 3,934 had borderline HbA(2) values from 3.1 to 3.9%; 410 samples, analyzed previously using PCR methods and sequencing because all of these were partners of a carrier of classical beta-thalassemia, were selected for statistical analysis. Of 410 subjects, 94 (2...

2017
Constantinos Tsompos Constantinos Panoulis Konstantinos Toutouzas Aggeliki Triantafyllou George C Zografos Apostolos Papalois

3. Taher A, Isma'eel H, Cappellini MD. Thalassemia intermedia: revisited. Blood Cells Mol Dis 2006;37:12-20. 4. Huehns ER, Dance N, Beaven GH, Heclht F, Motulsky AG. Human embryonic hemoglobins. Cold Spring Harb Symp Quant Biol 1964;29:327-31. 5. Villegas A, Ropero P, González FA, Anguita E, Espinós D. The thalassemia syndromes: molecular characterization in the Spanish population. Hemoglobin 2...

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