Results 11 to 20 of about 53,686 (285)

BETA THALASSEMIA

The Professional Medical Journal, 2018
Background: Inadequate Blood Transfusion is responsible for various problemsin children with Thalasseima. On the other hand, repeated transfusions are related with hazards.About 25-50% of the children with thalassemia major have impaired glucose tolerance (IGT)or diabetes.
Iqbal Ahmed, Muhammad Ammar Sadiq, Umair Arshad, Hafiz Muhammad Anwar ul Haq, Sobia Tabassum, Arshia Sabir, Muhammad Ejaz ul Haq   +6 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

Varied clinical presentation of compound heterozygous thalassemia with delta beta or hereditary persistence of foetal hemoglobin

Pediatric Hematology Oncology Journal, 2023
Introduction: Delta-beta thalassemia and hereditary persistence of fetal hemoglobin (HPFH) results from a deletion in both the delta and beta genes on chromosome 11.
Sneha Waghela, Sujata Sharma, Nikita Shah, Harshada Uchil, Radha Ghildiyal   +4 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

A Strategy analysis for genetic association studies with known inbreeding [PDF]

, 2011
Background: Association studies consist in identifying the genetic variants which are related to a specific disease through the use of statistical multiple hypothesis testing or segregation analysis in pedigrees.
Bertolino, Francesco, Biino, Ginevra, Cabras, Stefano, Castellanos, Maria Eugenia, Casula, Laura, Del Giacco, Stefano, Persico, Ivana, Pirastu, Mario, Pirastu, Nicola, Sassu, Alessandro   +9 more
core   +4 more sources

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

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

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