Results 41 to 50 of about 11,475 (240)

Hemoglobinopathies in Turkey

Hemoglobin, 1985
Öz bulunamadı.
openaire   +3 more sources

Oral Cryptococcosis due to Naganishia diffluens in a Patient With Thalassemia: A Case Report and a Literature Review

Journal of Clinical Laboratory Analysis, EarlyView.
Naganishia diffluens, a rare non‐neoformans cryptococcal species, was identified by PCR sequencing as the causative agent of oral cryptococcosis in a 31‐year‐old Iranian man with β‐thalassemia. This case represents the first documented instance of oral infection by N.
Zahra Yahyazadeh, Zeynab Haseli, Javad Javidnia, Mahdi Abastabar, Eisa Nazar, Hosein Jalali, Mohamad Taghi Hedayati, Hossein Karami, Mohsen Nosratabadi, Lotfollah Davoodi, Seyyed Reza Aghili, Maryam Moazeni, Iman Haghani, Hamid Badali   +13 more
wiley   +1 more source

The Effect of Resveratrol on Gamma Globin Gene Expression in Patients with Beta Thalassemia: The Role of Adaptation to Cellular Stress

Thalassemia Reports
HbF induction is an appropriate strategy to ameliorate the severity of β-thalassemia symptoms. Hydroxyurea (HU) is the most common chemical agent introduced as an HbF inducer but responsiveness to HU is variable and the introduction of HbF inducers ...
Hossein Jalali, Mohammad Reza Mahdavi, Mehrnoush Kosaryan, Ahmad Najafi, Aily Aliasgharian, Ebrahim Salehifar   +5 more
doaj   +1 more source

Combination iron chelation therapy with deferiprone and deferasirox in iron-overloaded patients with transfusiondependent β-thalassemia major

Clinics and Practice, 2017
There are few papers on the combination therapy of deferiprone (DFP) and deferasirox (DFX) in iron-overloaded patients with transfusion-dependent β-thalassemia major (β-TM). A total of 6 patients with β-TM (5 males and 1 female) with a mean age of 23.8±5.
Hossein Karami, Mehrnoush Kosaryan, Arash Hadian Amree, Hadi Darvishi-Khezri, Masoomeh Mousavi   +4 more
doaj   +1 more source

Diagnosis of patients with hemoglobinopathies including α-thalassemia in a laboratory with limited resources

Iraqi Journal of Hematology, 2020
BACKGROUND: Diagnosis of α-thalassemia can be challenging as it is clinically insignificant in the majority of patients who are presented with one or two α-gene deletion, it cannot be always suspected from the red cell indices, and the confirmatory tests
Abbas Hashim Abdulsalam, Subh Salim Al-Mudallal, Nidhal Karim Al-Rahal   +2 more
doaj   +1 more source

Improving Communication between Doctors and Parents after Newborn Screening [PDF]

, 2011
Background: Newborn screening (NBS) enables early treatment, and some consider it a natural vehicle for genetic screening. Bioethicists argue for caution since families of infants with carrier status can develop psychosocial complications.
Christopher, Stephanie, Collins, Jenelle, Eskra, Kerry, Farrell, Michael, Farrell, Philip M., Hoffman, Gary, Kennedy-Parker, Karen, La Pean, Alison, Panepinto, Julie, Tluczek, Audrey   +9 more
core   +2 more sources

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear, Billie Lianoglou, Ugur Hodoglugil, W. Patrick Devine, Ashutosh Lal, Juan Gonzalez, Teresa N. Sparks   +6 more
wiley   +1 more source

Hemoglobin Variant (Hemoglobin Aalborg) Mimicking Interstitial Pulmonary Disease

Pulmonary Medicine, 2014
Hemoglobin Aalborg is a moderately unstable hemoglobin variant with no affiliation to serious hematological abnormality or major clinical symptoms under normal circumstances.
Vasiliki Panou, Peter-Diedrich Mathias Jensen, Jan Freddy Pedersen, Lars Pilegaard Thomsen, Ulla Møller Weinreich   +4 more
doaj   +1 more source

A validated measure of adherence to antibiotic prophylaxis in children with sickle cell disease [PDF]

, 2016
BACKGROUND: Antibiotic prophylaxis is a mainstay in sickle cell disease management. However, adherence is estimated at only 66%. This study aimed to develop and validate a Sickle Cell Antibiotic Adherence Level Evaluation (SCAALE) to promote systematic ...
Bloom, Ellen M., Duncan, Natalie A., Hampton, Kisha C., Kronenberger, William G., Rampersad, Angeli G., Roberson, Christopher P., Shapiro, Amy D.   +6 more
core   +2 more sources

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