Results 21 to 30 of about 1,051,766 (308)

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

Management of Iron Overload in Beta-Thalassemia Patients: Clinical Practice Update Based on Case Series

International Journal of Molecular Sciences, 2020
Thalassemia syndromes are characterized by the inability to produce normal hemoglobin. Ineffective erythropoiesis and red cell transfusions are sources of excess iron that the human organism is unable to remove.
V. Pinto, G. Forni
semanticscholar   +1 more source

Beta Thalassemia: New Therapeutic Options Beyond Transfusion and Iron Chelation

Drugs, 2020
Hemoglobinopathies are among the most common monogenic diseases worldwide. Approximately 1–5% of the global population are carriers for a genetic thalassemia mutation.
I. Motta, R. Bou-Fakhredin, A. Taher, M. Cappellini   +3 more
semanticscholar   +1 more source

Rare Co-occurrence of Beta-Thalassemia and Pseudoxanthoma elasticum: Novel Biomolecular Findings

Frontiers in Medicine, 2020
A number of beta-thalassemia patients, independently from the type of beta-thalassemia (β0 or β+) and blood transfusion requirements, may develop, after puberty, dermal, cardiovascular, and ocular complications associated with an ectopic mineralization ...
F. Boraldi, F. Lofaro, Sónia Costa, Pasquale Moscarelli, D. Quaglino   +4 more
semanticscholar   +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

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

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

Alpha and beta-Thalassemia mutations in Hubei area of China

BMC Medical Genetics, 2020
BackgroundThalassemia is a group of inherited hemoglobic disorders resulting from defectsin the synthesis of one or more of the hemoglobin chains, which is one of the most prevalent inherited disorders in southern China.
Yao-wu Zhu, N. Shen, Xiong Wang, Juan Xiao, Yanjun Lu   +4 more
semanticscholar   +1 more source