Results 61 to 70 of about 32,114 (198)

Molecular bases of α-thalassemia in Argentina [PDF]

, 2015
La α-talasemia, es uno de los desórdenes hereditarios más frecuentes mundialmente. Al presente, el diagnóstico molecular es la única herramienta que permite el diagnóstico certero.
Cerrone, Gloria Edith, Copelli, Silvia Beatriz, Francipane, Liliana, Nash, Abigail, Scheps, Karen, Varela, Viviana   +5 more
core  

Prenatal diagnosis of thalassemia [PDF]

, 2008
published_or_final_versio
Chan, V, Cheong, KB, Leung, KY, Tang, MHY   +3 more
core  

Association between Alpha- Klotho Protein, Calcium, and Phosphate concentrations in Adult Iraqi Patients with Beta-Thalassemia Major

مجلة كلية الطب
Background: Beta-thalassemia major is a prevalent global condition characterized by a rapid breakdown of red blood cells. Regular blood transfusions can give rise to problems such as cardiovascular disease, diabetes, osteoporosis, and renal disorders ...
Ahmed J. Kadhim, Hedef D. El-Yaseen, Ali M. Jawad   +2 more
doaj   +1 more source

Determination of the Need for Prenatal Diagnosis in Carriers of Alpha Thalassemia

مجله دانشکده پزشکی اصفهان, 2013
Background: In recent years, both alpha and beta thalassemia have been screened in couples before marriage. The severe form of alpha thalassemia, i.e. hydrops fetalis, is found in fetuses and causes fetal death.
Mitra Ramezani, Yadollah Ramezani, Davood Amirian, Mansoor Salehi   +3 more
doaj  

The Effect of Xmn -1 Polymorphism and Coinheritance of Alpha Mutations on Age at First Blood Transfusion in Iranian Patients with Homozygote IVS 1-5 Mutation

International Journal of Hematology-Oncology and Stem Cell Research, 2022
Background: Thalassemia syndromes are the most prevalent hereditary hemoglobinopathies in the world. Iran is located on the thalassemia belt.  In this study, the effect of Xmn -1 polymorphism and coinheritance of alpha mutations on age at first ...
Mozhgan Hashemieh, Zahraalsadat Saadatmandi, Azita Azarkeivan, Hossein Najmabadi   +3 more
doaj  

Biochemical and Hematological Study with the Appreciation of some Immunological Parameters in Thalassemia Patients at Kerbala Province

Journal of Pure and Applied Microbiology, 2018
Thalassemia is a genetic disorder occurs as a result of the imbalance in the construction of haemoglobin chains cause haemolytic anaemia. This study was aimed to evaluate the serum level of immunological parameters (Transforming growth factor beta1 ...
Rusul Malik Al-Dedah, Wafaa S. Al-wazni, Mohammed Talat abbas, Hussein H. Al-Ghanimi, Fatema Abduallah   +4 more
doaj   +1 more source

Prenatal screening and counseling for genetic disorders [PDF]

, 2013
Introduction: The carriers of the same autosomal recessive disorder are usually unaware of onset of the genetic diseases in the children even if screenings are available for many of these disorders. In this paper, we report the experience of the Prenatal
CASTALDO, GIUSEPPE, MARTINELLI, PASQUALE, MARUOTTI, GIUSEPPE MARIA, SARNO, LAURA, SIMIOLI, STEFANIA   +4 more
core   +1 more source

Alpha-thalassemia due to novel deletions and complex rearrangements in the subtelomeric region of chromosome 16p [PDF]

, 2017
2º Dia do Jovem Investigador do Instituto Nacional de Saúde Doutor Ricardo Jorge, INSA, 8 maio 2017Introduction: Inherited deletions removing the α-globin genes and/or their upstream regulatory elements (MCSs) give rise to alpha-thalassemia, one of the ...
Batalha Reis, Ana, Coelho, Andreia, F. Lacerda, João, Faustino, Paula, Ferrão, José, Gomes, Susana, Gonçalves, João, Gonçalves, Lúcia, Kjollerstrom, Paula, Lavinha, João, Loureiro, Pedro, Maia, Raquel, Miranda, Armandina, Monteiro, Estela, Pina, Francisca, Seuanes, Filomena, Silva, Marisa, Sonesson, Annika, Valtonen-André, Camila   +18 more
core   +1 more source

The clinical impact of MTHFR polymorphism on the vascular complications of sickle cell disease [PDF]

, 2006
Sickle cell disease (SCD) is one of the most common inherited diseases in the world and the patients present notorious clinical heterogeneity. It is known that patients with SCD present activation of the blood coagulation and fibrinolytic systems ...
Beltrão, A.c.s., Figueiredo, Maria Stella, Gil, I.c.p., Lourenco, Dayse Maria, Moreira Neto, F., Morelli, V.m., Noguti, Maria Aparecida Eiko   +6 more
core   +3 more sources

Quantitative analysis of the dystrophin gene by real-time PCR [PDF]

, 2012
Duchenne and Becker muscular dystrophy (DMD/BMD) are severe X-linked neuromuscular disorders caused by mutations in the dystrophin gene. Our aim was to optimize a quantitative real-time PCR method based on SYBR® Green I chemistry for routine ...
Anđelkovic Ana, Brankovic S., Bunjevacki Vera, Cvjeticanin Suzana, Damnjanovic Tatjana, Jekic Biljana, Kastratovic-Kotlica Biljana, Lukovic Ljiljana, Maksimovic Nela, Milic-Rasic Vedrana, Novakovic Ivana, Perovic Dijana, Rakocevic-Stojanovic Vidosava   +12 more
core   +2 more sources