Diagnosis and management of genetic iron overload disorders

WC Palmer, P Vishnu, W Sanchez, B Aqel… - Journal of general …, 2018 - Springer
Iron overload disorders lead to excess iron deposition in the body, which can occur as a
result of genetic or secondary causes. Genetic iron overload, referred to as hereditary …

Genetic variation and sickle cell disease severity: a systematic review and meta-analysis

JK Kirkham, JH Estepp, MJ Weiss… - JAMA network …, 2023 - jamanetwork.com
Importance Sickle cell disease (SCD) is a monogenic disorder, yet clinical outcomes are
influenced by additional genetic factors. Despite decades of research, the genetics of SCD …

Elucidating Iron Metabolism through Molecular Imaging

F Liao, W Yang, L Long, R Yu, H Qu, Y Peng… - Current Issues in …, 2024 - mdpi.com
Iron is essential for many physiological processes, and the dysregulation of its metabolism is
implicated in the pathogenesis of various diseases. Recent advances in iron metabolism …

[HTML][HTML] Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in …

Y Sharif, S Irshad, A Tariq, S Rasheed… - Saudi medical …, 2019 - ncbi.nlm.nih.gov
Objectives: To evaluate any association between the frequency of hereditary
hemochromatosis (HFE) gene mutation (H63D and C282Y) and iron overload in beta …

Organ damage mitigation with the baskent sickle cell medical care development program (BASCARE)

H Ozdogu, C Boga, S Asma, I Kozanoglu… - Medicine, 2018 - journals.lww.com
Abstract The Eastern Mediterranean is among the regions where sickle cell disease (SCD)
is common. The morbidity and mortality of this disease can be postponed to adulthood …

Classification and structural analyses of mutational landscapes in hemochromatosis factor E protein: a protein defective in the hereditary hemochromatosis

M Shahbaaz, S Rahman, P Khan, J Kim, MI Hassan - Gene Reports, 2017 - Elsevier
Hereditary hemochromatosis (HH) is a recessive disease, associated with an elevated level
of iron in the parenchymal cells of primary organs. The isolates from infected individuals …

Emoglobinopatie: caratterizzazione genetica molecolare e flussi migratori in una regione non endemica

Y Barbanera - 2021 - iris.uniroma1.it
Emoglobinopatie: caratterizzazione genetica molecolare e flussi migratori in una regione
non endemica. Le emoglobinopatie sono le malattie monogeniche più comuni al mondo …

When a Simple Serum Ferritin Level Measurement Misleads the Diagnosis of a Neonate in the NICU: A Case Report and Review of Literature

TB Aljishi, MA Al Ghamdi - The Egyptian Journal of Hospital …, 2018 - ejhm.journals.ekb.eg
This case report describes a newborn girl born with non-immune hydrops fetalis with
bicytopenia and elevated iron indexes. A genetic study which was done revealed a positive …