Results 111 to 120 of about 5,627,179 (327)

ACMG/AMP‐Based Variant Classification of a Novel HBA2 Variant (HBA2: C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana (HBA2:C.179G>A) Causing Non‐Deletional Hb H Disease

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Accurate classification of novel globin gene variants is critical for the diagnosis and management of thalassaemia. The adaptation of ACMG/AMP guidelines for globin genes represents an important step toward standardising variant interpretation and enhancing clinical utility in the field.
Norafiza Mohd Yasin, Suguna Somasundram, Syahzuwan Hassan, Nur Aisyah Aziz, Faidatul Syazlin Abdul Hamid, Ezzanie Suffya Zulkefli, Nor Nazuha Mohamad, Chin Ming Lee, Mohd Nazif Darawi, Thessalia Papasavva, Coralea Stephanou, Petros Kountouris, Sandra J. G. Arkesteijn, Tamara Koopman, Cornelis L. Harteveld   +14 more
wiley   +1 more source

Radiographic Features of the Maxillofacial Anomalies in Beta-Thalassemia Major: With New View [PDF]

, 2021
Soheyla Bayati, Bijan Keikhaei, Mohammad Bahadoram, Mohammad‐Reza Mahmoudian‐Sani, Mohammad Vaneshani, Fatemeh Behbahani   +5 more
openalex   +1 more source

Malaria Screening and Treatment in Hematopoietic Cell Transplant Donors and Sickle Cell Disease Candidates/Recipients: A Case Series Using Malaria Polymerase Chain Reaction Testing and a Literature Review

Transplant Infectious Disease, EarlyView.
Malaria polymerase chain reaction (PCR) testing is more sensitive than conventional diagnostics. Routine PCR screening of at‐risk asymptomatic hematopoietic cell donors and transplant candidates may prevent unnecessary deferrals or treatment. In our experience, PCR negativity during screening or after treatment supports donor/candidate eligibility ...
Mary M. Czech, Sanchita Das, Emily Limerick, Courtney Fitzhugh, Matthew Hsieh, Jennifer Cuellar‐Rodriguez   +5 more
wiley   +1 more source

Prevalence of the C282Y and H63D mutations of the HFE hemochromatosis gene in Azerian major β-thalassemia and iron overload [PDF]

, 2016
In this study, we have determined the allele frequency of HFE mutations H63D and C282Y in a group of Azerian beta-thalassemia major patients. These two mutations are implicated in hereditary hemochromatosis among Caucasians.
Ahmadi, M. R. H., Akbari, A. A. M., Feyzi, A. A. H. P., Ghaderi, A., Hagh, M. F., Hiradfar, A., Hosseini, E.   +6 more
core   +1 more source

The Role of Immune System in Thalassemia Major: A Narrative Review

, 2017
Context: Thalassemia is a genetic disorder of hemoglobin production. Patients with thalassemia major (TM) require regular blood transfusions to keep a compatible hemoglobin level for oxygenating organs. These patients suffer from different complications
A. Bazi, I. Shahramian, H. Yaghoobi, M. Naderi, H. Azizi   +4 more
semanticscholar   +1 more source

Characterisation of RHD and RHCE variations in blood donors from Jazan Province, Southwestern Saudi Arabia

Transfusion Medicine, EarlyView.
Abstract Background and Objectives Rh is among the most important and highly polymorphic blood group systems due to the proximity of the RHD and RHCE genes, which encode numerous highly immunogenic antigens. However, in areas of Saudi Arabia with a high prevalence of hemoglobinopathy, the molecular characteristics of RHD and RHCE variations are lacking.
Maymoon M. Madkhali, Mayisah Khormy, Abdullah A. Meshi, Bandar Kameli, Khaled Ghazwani, Ohoud Sufyani, Salha Hakami, Yahya Khawaji, Abdullah A. Mobarki, Khaled Essawi, Waleed Hakami, Yara Alyahyawi, Aymen M. Madkhali, Gasim Dobie, Hassan A. Hamali   +14 more
wiley   +1 more source

Models of preconception care implementation in selected countries. [PDF]

, 2006
Globally, maternal and child health faces diverse challenges depending on the status of the development of the country. Some countries have introduced or explored preconception care for various reasons.
Delvoye, Pierre, Ebrahim, Shahul H, Han, Jung-Yeol, Lo, Sue Seen-Tsing, Zhu, Li, Zhuo, Jiatong   +5 more
core   +2 more sources

The Effect of Partnership Care Model on Mental Health of Patients with Thalassemia Major

Depression Research and Treatment, 2017
Background Thalassemia major has become a public health problem worldwide, particularly in developing and poor countries, while the role of educating the family and community has not been considered enough in patients' care.
Afzal Shamsi, F. Amiri, A. Ebadi, M. Ghaderi   +3 more
semanticscholar   +1 more source

Cost‐effectiveness of a hypothetical assay to evaluate stored blood quality prior to transfusion

Vox Sanguinis, EarlyView.
Abstract Background and Objectives Unsuccessful red blood cell (RBC) transfusion, necessitating unscheduled repeat transfusion, is common and costly. Several technologies have been developed to assess stored blood quality, but the potential cost‐effectiveness of pretransfusion testing versus no testing to prevent unscheduled re‐transfusion is unknown ...
Melissa C. Caughey, Tara Templin, Nareg H. Roubinian, Matthew S. Karafin   +3 more
wiley   +1 more source

Hypoparathyroidism in Adult Patients with Beta-Thalassemia Major

Sultan Qaboos University Medical Journal, 2007
Objective: To evaluate the prevalence of hypoparathyroidism in adult transfusion-dependent patients with beta-thalassemia major in a teaching referral hospital in Oman.
Gihan Ali A M Sleem, Ibrahim S Al-Zakwani, Muhanna Almuslahi   +2 more
doaj