Results 91 to 100 of about 140,652 (287)

Gene Editing for Haemophilia—The Next Frontier

Haemophilia, EarlyView.
ABSTRACT The recently approved haemophilia A and B gene therapies via adeno‐associated virus (AAV) showed a promising therapeutic response after a single injection, but there are still limitations, including the potential loss of transgene expression and restriction in adults.
Mirko Pinotti, Gregory A. Newby, Sundar Selvaraj, Steven W. Pipe   +3 more
wiley   +1 more source

Free Fetal DNA Testing to Guide Early Intervention in the Management of the Kell Alloimmunized Pregnancy

Prenatal Diagnosis, EarlyView.
Kenneth J. Moise Jr, Thomas Trevett, Stephanie Moench, Erin Moise   +3 more
wiley   +1 more source

Smartphone‐Based Teledentistry to Support Clinical Triage and Risk‐Informed Dental Care in Patients With Inherited Bleeding and Haemoglobin Disorders: A Cross‐Sectional Diagnostic Agreement Study

Haemophilia, EarlyView.
ABSTRACT Introduction Patients with inherited bleeding and haemoglobin disorders face barriers to accessing timely dental care, increasing the risk of untreated oral disease and complications related to invasive procedures. Aim To evaluate the agreement between smartphone‐based asynchronous teledentistry and face‐to‐face examination for oral conditions,
Victor Cordeiro da Silva, Carolina Mendes Frusca do Monte, Leandro Tavares da Silva, Gabriela Silva Almeida, Claudia Santos Lorenzato, José Vitor Nogara Borges de Menezes, Fabian Calixto Fraiz, Cassius Carvalho Torres‐Pereira   +7 more
wiley   +1 more source

Autologous hematopoietic stem cell transplant in pediatric lymphoma our experience

Pediatric Hematology Oncology Journal, 2022
Pranoti Chiwarkar, Rajesh Patil, Ashutosh Walawalkar, Amit Jain, Pranoti Kini, Poulami Das, Srishti Srivastava, Ratna Sharma, Mamta Manglani   +8 more
doaj   +1 more source

Causes of Hospitalizations in Pediatric Patients with Thalassemia under the National Health Coverage Scheme in Thailand

Thalassemia is a hereditary hemolytic anemia that is prevalent in Southeast Asia. The primary treatment for severe thalassemia involves red cell transfusion, iron chelation, and the treatment of long-term complications, leading to frequent hospital ...
Panya Seksarn, Patcharee Komvilaisak, Kaewjai Thepsuthummarat, Kitti Torcharus, Pimlak Charoenkwan   +4 more
core   +1 more source

β Globin Mutations in Turkish, Northern Iraqi and Albanian Patients with β Thalassemia Major

, 2018
The mutation detection of β thalassemia is absolutely necessary for molecular diagnosis, as well as any genetic epidemiological study. The β globin gene has 3 exons and 2 introns, involved in β-thalassemic pathogenesis.
Tunc Fisgin, Ceyhun Bozkurt, Murat Buyukdogan, Veysel Sabri Hancer, Sotiraq Lako, Lako, Sotiraq, Bozkurt, Ceyhun, Fisgin, Tune, Hancer, Veysel Sabri, Buyukdogan, Murat   +9 more
core   +1 more source

Impact of Heat Block Drying on Morphologic Preservation and Staining of Peripheral Blood Smears

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Introduction Morphologic evaluation of the peripheral blood smear is critical for diagnosis and ruling out certain hematologic disorders. While air‐drying is standard, some laboratories may use heat blocks to expedite drying. Excessive heat may induce morphologic artifacts, but there is a lack of systematic literature on this practice ...
Ryan C. Shean, Nicolas Mavromatis, Gary Isom, Angie Turnbow, Lauren Pearson   +4 more
wiley   +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

A Population-Oriented Genetic Scoring System to Predict Phenotype: A Pathway to Personalized Medicine in Iraqis With β-Thalassemia

To assess the roles of genetic modifiers in Iraqi β-thalassemia patients, and determine whether a genotype-based scoring system could be used to predict phenotype, a total of 224 Iraqi patients with molecularly characterized homozygous or compound ...
Regir K Sadullah (18015372), Adil Abozaid Eissa (18015375), Sulav D Atroshi (18015369), Shatha Qadir (18015378), Shaima Al-Zebari (16730631), Dilan Khalil (18015381), Nasir Al-Allawi (3095073), Gernot Kriegshäuser (5680346), Christian Oberkanins (18015384)   +8 more
core   +1 more source

Differentiating β‐Thalassaemia From Iron Deficiency: Performance and Cut‐Off Dependency of More Than 40 Red Cell Discrimination Indices in a Large German Cohort

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Since the 1970s, more than 40 red blood cell–based formulas have been proposed to differentiate β‐thalassaemia trait (BTT) from iron deficiency (ID) and iron deficiency anaemia (IDA), the main causes of microcytic anaemia. In Germany, where haemoglobinopathies are rare in the autochthonous population but increasingly encountered due
Rafid Al‐Nabhan, Dani Hakimeh, Lena Oevermann   +2 more
wiley   +1 more source