Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons^™

Full Issue: The International Undergraduate Journal Of Health Sciences, Volume 1, Issue 1, June 2021

International Undergraduate Journal of Health Sciences

The full June 2021 issue (Volume 1, Issue 1) of the International Undergraduate Journal of Health Sciences

Genomic Characterization Of Sickle Cell Mouse Models For Therapeutic Genome Editing Applications, Kaitly Jensen Woodard

Theses and Dissertations (ETD)

Sickle cell disease (SCD) is caused by a mutation of the β-globin gene (HBB), resulting in abnormal hemoglobin molecules that polymerize when deoxygenated, forming “sickle” shaped red blood cells (RBCs). Sickle RBCs lead to anemia, multi-organ damage and pain crises, beginning the first year of life. The onset of symptoms coincides with the developmental switch of β-like globin gene expression from fetal stage γ-globin to adult stage β-globin, resulting in a shift from fetal hemoglobin (HbF, α2γ2) to adult hemoglobin (HbA, α2β2). Some individuals harbor rare genetic variants in the extended β-globin gene cluster that cause constitutively elevated postnatal HbF, …

Utility Of Cognitive Behavioral Therapy To Reduce Pain In Children With Sickle Cell Disease, Abigail Radomsky

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report appraising:

Schatz J, Schlenz AM, McClellan CB, et al. Changes in coping, pain, and activity after cognitive-behavioral training. The Clinical Journal of Pain 2015;31(6):536-47 https://doi.org/10.1097/ajp.0000000000000183

for a child with sickle cell disease.

Luspatercept Diminishes The Need For Red Blood Cell Replacement In Transfusion-Dependent Β-Thalassemia Patients, Joudeh B. Freij

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report appraising:

Cappellini MD, Viprakasit V, Taher AT, et al. A phase 3 trial of luspatercept in patients with transfusion-dependent β-thalassemia. N Engl J Med. 2020;382(13):1219-1231. https://doi.org/10.1056/NEJMoa1910182

for a patient with transfusion-dependent beta-thalassemia.