Results 51 to 60 of about 872,130 (197)
JPGN Reports, EarlyView.Abstract Plummer–Vinson syndrome (PVS) is characterised by the triad of dysphagia, iron‐deficiency anaemia, and proximal oesophageal webs. While well described in adults, paediatric cases remain exceptionally rare, particularly in sub‐Saharan Africa.
Paul Mike Tayou Mbobda +2 more
wiley +1 more source
Scientific Reports, 2019 β thalassaemia intermedia (βTI) are a heterogeneous group of disorders known to be extremely phenotypically diverse. This group is more complex to manage as no definitive treatment guidelines exist unlike for β thalassaemia major (βTM).
Shiromi Perera +11 more
doaj +1 more source
The Kaohsiung Journal of Medical Sciences, EarlyView.ABSTRACT Advances in therapy have extended the life expectancy of patients with thalassemia to near that of the general population; complications such as endocrine disorders and osteoporosis remain prevalent. This study aimed to identify endocrine complications, factors associated with endocrine complications, and changes in bone mineral density (BMD ...
Cheng‐Ying Hsu +7 more
wiley +1 more source
Neuroprotection, EarlyView.Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji +4 more
wiley +1 more source
Diagnosis of Beta-Thalassaemia Carriers in the Sultanate of Oman
Sultan Qaboos University Medical Journal, 2006 Background: Haemoglobinopathies are a major cause of morbidity in the Sultanate of Oman and premarital screening is being encouraged in order to reduce the number of affected births.
Shahina Daar, David Gravell
doaj
Prenatal Diagnosis, EarlyView.ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij +11 more
wiley +1 more source
Thalassaemia screening among healthy blood donors in Hospital Tengku Ampuan Rahimah, Klang
, 2014 Thalassaemia screening programme has been conducted in Malaysia since 2004. The aim of the programme was to reduce the burden of the disease by identifying thalassaemia carriers.
Asidin, Norhanim +11 more
core +1 more source
Prenatal Screening for Rare Co-Inheritance of HbE and β-Thalassaemia Traits in Western India [PDF]
Journal of Clinical and Diagnostic Research, 2017 The mutations in Haemoglobin Beta (HBB) gene, bring about less or no production of Hb β-chain synthesis in affected cases, leading from minor to major types depending on haematological indices.
Parth S Shah +4 more
doaj +1 more source
Clinical characteristics of patients with transfusion dependent β- thalassaemia.
, 2020 Clinical characteristics of patients with transfusion dependent β- thalassaemia.
Sachith Mettananda (411784) +7 more
core +1 more source
Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis
Prenatal Diagnosis, EarlyView.ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell +6 more
wiley +1 more source