Results 11 to 20 of about 48,747 (238)

Beta thalassemia syndromes: New insights

World Journal of Clinical Cases
Beta thalassemia (β-thalassemia) syndromes are a heterogeneous group of inherited hemoglobinopathies caused by molecular defects in the beta-globin gene that lead to the impaired synthesis of beta-globin chains of the hemoglobin. The hallmarks of the disease include ineffective erythropoiesis, chronic hemolytic anemia, and iron overload.
Đordevic, Ana, Mrakovčić-Šutić, Ines, Pavlović, Sonja, Ugrin, Milena, Roganović, Jelena   +4 more
openaire   +3 more sources

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

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

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

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

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

Transcriptional regulation of the ABCC6 gene and the background of impaired function of missense disease-causing mutations. [PDF]

, 2013
The human ATP-binding cassette family C member 6 (ABCC6) gene encodes an ABC transporter protein expressed primarily in the liver and to a lesser extent in the kidneys and the intestines.
Arányi, Tamás, Bacquet, Caroline, Boussac, Hugues de, Fülöp, Krisztina, Pomozi, Viola, Váradi, András   +5 more
core   +1 more source

Identification of erythroferrone as an erythroid regulator of iron metabolism. [PDF]

, 2014
Recovery from blood loss requires a greatly enhanced supply of iron to support expanded erythropoiesis. After hemorrhage, suppression of the iron-regulatory hormone hepcidin allows increased iron absorption and mobilization from stores.
Ganz, Tomas, Jung, Grace, Kautz, Léon, Nemeth, Elizabeta, Rivella, Stefano, Valore, Erika V   +5 more
core   +1 more source

Evaluation of the levels of the markers of ineffective erythropoiesis (transforming growth factor-beta, growth differentiation factor 15 and erythropoietin) in patient with ß-thalassemia syndrome and its correlation to clinical and hematological parameters

Iraqi Journal of Hematology, 2022
BACKGROUND: Anemia of β thalassemia results from a combination of ineffective erythropoiesis and hemolysis. This stimulates erythropoietin (EPO) production, which causes expansion of the bone marrow and may lead to serious deformities of the skull and ...
May Hikmat Yousif, Hind Shaker Al-Mamoori   +1 more
doaj   +1 more source

Thalassemia (Beta-Thalassemia)

International Journal For Multidisciplinary Research, 2023
Thalassemia is an inherited blood disorder characterized by less oxygen carrying protein (Haemoglobin) and fever red blood cells in the body than normal. There are mainly two types of thalassemia i.e. Alpha and Beta thalassemia about 1-5% of the global population 80-90 million people are the carrier of ß thalassemia which is major concern.
Tathe Pratiksha Annasaheb -, Gosavi Pratiksha Pramod -, Dr.Gajanan sanap -   +2 more
openaire   +1 more source