Results 91 to 100 of about 181,456 (327)

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Inherited thrombocytopenias: Early diagnosis for optimum treatment

Pediatric Hematology Oncology Journal, 2022
Anagha Kulkarni, Amit Jain, Poulami Das, Krisha Shah, Ashutosh Walawalkar, Pranoti Kini, Ratna Sharm, Mamta Manglani   +7 more
doaj   +1 more source

Fast-track strategy for the prevention of Hb Bart’s hydrops fetalis syndrome

Thalassemia Reports, 2017
We propose a fast-track strategy [direct blood DNA analysis using a quantitative real-time polymerase chain reaction (PCR) technique] for the early risk detection and prenatal diagnosis of α(0)-thalassemia (SEA and Thai deletion).
Narutchala Suwannakhon, Khajohnsilp Pongsawatkul, Teerapat Seeratanachot, Wirawan Rasri, Khwanruedee Mahingsa, Arunee Pingyod, Wanwipa Bumrungpakdee, Torpong Sanguansermsri   +7 more
doaj   +1 more source

Third-degree heart block in thalassemia major: A case report [PDF]

, 2012
Background: First and second-degree heart blocks are partly common rhythm disorders in thalassemic patients but complete heart block is a very rare complication of iron overload cardiomyopathy.
Hosseini, S.M., Maleki, A.R., Nikyar, B.
core   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Diagnostic Value of Fructosamine and Glycosylated Hemoglobin in Estimating Blood Glucose Level in Diabetic Patients with Thalassemia Major

Medical Laboratory Journal, 2013
Background and Objective: Diabetes mellitus is one of complications that thalassemia major patients face with. Hence, blood glucose monitoring is of vital importance to these patients.
M Kosaryan, MR, A Aliasgharian, M Mousavi, P Roshan   +4 more
doaj  

Prevalence and intensity of depression in mothers of children with beta-thalassemia major in Talghani Hospital of Gorgan, Iran [PDF]

, 2014
Background: Thalassemia is a chronic disease that it leads to psychological and social problems for parents. Mothers are at markedly increased risk of suffering from psychological distress and depression because they usually take on a considerable part ...
Jahazi, A., Karimi, M., Mirbehbahani, N., Salehi, M.   +3 more
core  

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

Effects of vitamin e and zinc supplementation on antioxidants in beta thalassemia major patients [PDF]

, 2011
Objective: In beta thalassemic patients, tissue damage occurs due to oxidative stress and it happens because of the accumulation of iron in the body. This study was conducted to determine the effect of zinc and vitamin E supplementation on antioxidant ...
Aboomardani, M., Arefhosseini, S.-R., Joshaghani, H., Keshtkar, A., Rafraf, M., Rashidi, M.   +5 more
core   +1 more source

Perceptions of thalassemia and its treatment among Malaysian thalassemia patients: A qualitative study [PDF]

, 2016
Background Thalassemia is a common public health problem in Malaysia and one of the most common chronic and genetic disorders. Aims The present qualitative study explores knowledge about thalassemia, perceptions about conventional therapies and the ...
Ahmad Hassali, Mohamed Azmi, Aljadhey, Hisham, Farooqui, Maryam, Ismail, Wan Ismahanisa, Saleem, Fahad   +4 more
core   +2 more sources