Plain film signs of sickle β-thalassaemia
Sign Up to like & getrecommendations! Published in 2017 at "The Lancet"
DOI: 10.1016/s0140-6736(16)30182-9
Abstract: A 28-year-old woman of Jewish descent with a history of sickle β-thalassaemia disorder and uterine fi broids presented to the emergency department with a 2-week history of frank haematuria. She had been taking paracetamol daily… read more here.
Keywords: sickle thalassaemia; thalassaemia; film signs; uterine broids ... See more keywords
Cascade screening for beta-thalassaemia in Pakistan: relatives’ experiences of a decision support intervention in routine practice
Sign Up to like & getrecommendations! Published in 2021 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-021-00974-y
Abstract: Low uptake of cascade screening for βeta-thalassaemia major (β-TM) in the ‘Punjab Thalassaemia Prevention Project’ (PTPP) in Pakistan led to the development of a ‘decision support intervention for relatives’ (DeSIRe). This paper presents the experiences… read more here.
Keywords: practice; cascade screening; intervention; thalassaemia ... See more keywords
A comprehensive ethnic-based analysis of alpha thalassaemia allelle frequency in northern Thailand
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-04957-2
Abstract: Alpha (α)-thalassaemia is one of the most prevalent hereditary blood disorders, commonly affecting Southeast Asian people, with the highest incidence (30–40%) being seen in northern Thailand. However, this high incidence was estimated without consideration of… read more here.
Keywords: alpha thalassaemia; northern thailand; thalassaemia; allele frequency ... See more keywords
The pitfall of antenatal thalassaemia screening
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Obstetrics and Gynaecology"
DOI: 10.1080/01443615.2016.1234448
Abstract: This was the first pregnancy of a non-consanguineous Thai couple. Antenatal screening revealed that the woman’s haemoglobin was 12.5 g/dl, MCV 82.2fL and mean cellular haemoglobin (MCH) 27.8 pg. Her husband’s haemoglobin was 15.4 g/dL,… read more here.
Keywords: antenatal thalassaemia; thalassaemia; amniotic fluid; pitfall antenatal ... See more keywords
The worldwide molecular spectrum and distribution of thalassaemia: a systematic review
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Human Biology"
DOI: 10.1080/03014460.2021.1909135
Abstract: Abstract Context Thalassaemia is one of the most common inherited autosomal recessive disorders around the world. A considerable amount of literature has been published about the type of mutations and the prevalence of thalassaemia, but… read more here.
Keywords: prevalence thalassaemia; thalassaemia; systematic review; spectrum ... See more keywords
Associations of serum sclerostin with bone mineral density, markers of bone metabolism and thalassaemia characteristics in adult patients with transfusion-dependent beta-thalassaemia
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Medicine"
DOI: 10.1080/07853890.2020.1744708
Abstract: Abstract Aim of the study: To assess serum sclerostin in transfusion-dependent beta-thalassaemia patients versus healthy controls and to examine its associations with bone mineral density, bone metabolism markers and beta thalassaemia alterations. Material and methods:… read more here.
Keywords: thalassaemia; beta thalassaemia; dependent beta; serum sclerostin ... See more keywords
A MALDI-TOF mass spectrometry-based haemoglobin chain quantification method for rapid screen of thalassaemia
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Medicine"
DOI: 10.1080/07853890.2022.2028002
Abstract: Abstract Background Thalassaemia is one of the most common inherited monogenic diseases worldwide with a heavy global health burden. Considering its high prevalence in low and middle-income countries, a cheap, accurate and high-throughput screening test… read more here.
Keywords: tof mass; mass spectrometry; maldi tof; thalassaemia ... See more keywords
Deferasirox improves liver fibrosis in beta‐thalassaemia major patients. A five‐year longitudinal study from a single thalassaemia centre
Sign Up to like & getrecommendations! Published in 2018 at "British Journal of Haematology"
DOI: 10.1111/bjh.14509
Abstract: Beta-thalassaemia major patients often develop liver fibrosis due to transfusion-related iron overload, increased intestinal iron absorption and/or hepatitis C virus (HCV) infection (Deugnier et al, 2011). The present study aimed to prospectively evaluate the liver… read more here.
Keywords: thalassaemia; liver fibrosis; analysis; study ... See more keywords
Association between hydroxycarbamide exposure and neurocognitive function in adolescents with sickle cell disease
Sign Up to like & getrecommendations! Published in 2020 at "British Journal of Haematology"
DOI: 10.1111/bjh.16519
Abstract: Patients with sickle cell disease (SCD) are at increased risk for neurocognitive impairments. While disease‐modifying treatment, such as hydroxycarbamide (hydroxyurea), may decrease this risk, it has not been systematically investigated in children with SCD. We… read more here.
Keywords: thalassaemia; hydroxycarbamide; hbs thalassaemia; hbsc hbs ... See more keywords
A complication risk score to evaluate clinical severity of thalassaemia syndromes
Sign Up to like & getrecommendations! Published in 2020 at "British Journal of Haematology"
DOI: 10.1111/bjh.17203
Abstract: The thalassaemia syndromes (TS) show different phenotype severity. Developing a reliable, practical and global tool to determine disease severity and tailor treatment would be of great value. Overall, 7910 patients were analysed with the aim… read more here.
Keywords: thalassaemia; complication risk; group; thalassaemia syndromes ... See more keywords
SLN124, a GalNac‐siRNA targeting transmembrane serine protease 6, in combination with deferiprone therapy reduces ineffective erythropoiesis and hepatic iron‐overload in a mouse model of β‐thalassaemia
Sign Up to like & getrecommendations! Published in 2021 at "British Journal of Haematology"
DOI: 10.1111/bjh.17428
Abstract: Beta‐thalassaemia is an inherited blood disorder characterised by ineffective erythropoiesis and anaemia. Consequently, hepcidin expression is reduced resulting in increased iron absorption and primary iron overload. Hepcidin is under the negative control of transmembrane serine… read more here.
Keywords: thalassaemia; ineffective erythropoiesis; iron overload; transmembrane serine ... See more keywords