Results 21 to 30 of about 30,419 (262)

Determination of mutations in iron regulating genes of beta thalassemia major patients of Khyber Pakhtunkhwa, Pakistan

Molecular Genetics & Genomic Medicine, 2020
Background Hepcidin and hemochromatosis (HFE) are iron regulatory proteins that are encoded by HAMP and HFE genes. Mutation in either HAMP gene or HFE gene causes Hepcidin protein deficiency that can lead to iron overload in beta thalassemia patients ...
Maryam Shah, Lubna Danish, Najeeb U. Khan, Fakhar Zaman, Muhammad Ismail, Mehfooz Hussain, Ruqiya Pervaiz, Aqib Iqbal   +7 more
doaj   +1 more source

SKRINING THALASSEMIA BETA MINOR PADA MAHASISWA FAKULTAS KEDOKTERAN UNIVERSITAS SRIWIJAYA

Jurnal Kedokteran dan Kesehatan, 2021
Berdasarkan data dari World Health Organization (WHO) tahun 2001, terdapat 7% populasi di seluruh dunia yang merupakan karier thalassemia atau penderita thalassemia minor. Di Indonesia, frekuensinya pun cukup tinggi yaitu 3-10%.
Medina Athiah, Safyudin Safyudin, Liniyanti Daniel Oswari   +2 more
doaj   +1 more source

The impact of iron deficiency on the diagnostic level of HbA2 in beta- thalassemia trait from the Sulaimani hemoglobinopathies screening program.

Advanced Medical Journal, 2022
Background and objectives: The identification of carriers of beta- thalassemia depends on the detection of a high level of hemoglobin A2. The hemoglobin A2 level is influenced by some elements including iron.
Awaz Ahmed Kamal Shalli, Sana Dlawar Jalal, Dler Jaza Mohammed   +2 more
doaj   +1 more source

Correlation of saliva characteristics and caries in beta-thalassemia major patients [PDF]

, 2021
A patient with beta-thalassemia major is known to have poor oral hygiene and a high risk of caries. Some studies showed that patients with beta-thalassemia have low salivary flow rate and acidic saliva.
Dewi, Siti Rusdiana Puspa, Muchzal, Suryadi, Septhimoranie, Sherly   +2 more
core   +2 more sources

TyG index and insulin resistance in beta-thalassemia [PDF]

, 2015
Insulin resistance (IR) underlies some glucose metabolism abnormalities in thalassemia major. Recently, triglyceride glucose index (TyG) has been proposed for evaluating insulin resistance as a simple, low cost, and accessible tool.
Fayaz, M., Hosseini, S.M., Jamshir, M., Mirbehbahani, N.   +3 more
core   +1 more source

Beta-Thalassemia major and pregnancy

Bratislava Medical Journal, 2013
It was studied the clinical management and the medical outcomes of 6 pregnancies in 5 women affected by Beta Thalassemia major, based on last guidelines and pharmacological treatments.Paediatric Department and Department of Obstetrics and Gynaecology of the University of Catania.These patients were taken among a group of 116 women affected by beta ...
Gulino F. A., Vitale S. G., Fauzia M., Cianci S., Pafumi C., Palumbo M. A.   +5 more
openaire   +8 more sources

Newborn Screening Practices for Beta-Thalassemia in the United States

International Journal of Neonatal Screening, 2021
Beta-thalassemia, a heritable condition of abnormal hemoglobin production, is not a core condition on the United States Recommended Uniform Screening Panel (RUSP) for state and territorial newborn screening (NBS) programs.
Michael A. Bender, Mary Hulihan, Mary Christine Dorley, Maria del Pilar Aguinaga, Jelili Ojodu, Careema Yusuf   +5 more
doaj   +1 more source

Prevalence of the C282Y and H63D mutations of the HFE hemochromatosis gene in Azerian major β-thalassemia and iron overload [PDF]

, 2016
In this study, we have determined the allele frequency of HFE mutations H63D and C282Y in a group of Azerian beta-thalassemia major patients. These two mutations are implicated in hereditary hemochromatosis among Caucasians.
Ahmadi, M. R. H., Akbari, A. A. M., Feyzi, A. A. H. P., Ghaderi, A., Hagh, M. F., Hiradfar, A., Hosseini, E.   +6 more
core   +1 more source

Iron dysregulation in beta-thalassemia

Asian Pacific Journal of Tropical Medicine, 2016
Iron deficiency anemia and iron overload conditions affect more than one billion people worldwide. Iron homeostasis involves the regulation of cells that export iron into the plasma and cells that utilize or store iron. The cellular iron balance in humans is primarily mediated by the hepcidin-ferroportin axis.
Leecharoenkiat, Kamonlak, Lithanatudom, Pathrapol, Sornjai, Wannapa, Smith, Duncan R.   +3 more
openaire   +2 more sources

Frequency of hereditary hemochromatosis gene mutations and their effects on iron overload among beta thalassemia patients of Chennai residents

AIMS Molecular Science, 2021
Hereditary Hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism associated with HFE gene mutations, characterized by increased iron absorption and accumulation leading to multi-organ damage caused by iron overload toxicity.
Bhuvana Selvaraj, Sangeetha Soundararajan, Shettu Narayanasamy, Ganesan Subramanian, Senthil Kumar Ramanathan   +4 more
doaj   +1 more source