A delayed diagnosis: recurrent fever and beta thalassaemia
نویسندگان
چکیده
منابع مشابه
Prenatal diagnosis of beta-thalassaemia and other haemoglobinopathies in India.
This paper reports prenatal diagnosis of 787 fetuses of beta-thalassaemia and other haemoglobinopathies in Indian high-risk communities. DNA based diagnosis was offered in the first, as well as the second trimester, in 489 pregnancies (with five twins) on fetal tissues such as chorionic villus (CV) and amniocytes using the amplification refractory mutation system (ARMS) and restriction fragment...
متن کاملA Case Report of Recurrent Rheumatic Fever: Considerations and Comments
Rheumatic fever (RF) is a prevalent healthcare problem in the developing countries. Recurrence of this disorder is often observed in childhood and adolescence. RF can mimic the presentations of infective endocarditis, and clinicians are not really familiar with this issue. Herein, we present a case of recurrent acute rheumatic fever in a patient suspicious of acute bacterial endocarditis due to...
متن کاملPrenatal diagnosis of beta-thalassaemia by chorionic villous sampling.
OBJECTIVE To establish intrauterine diagnosis of thalassaemia major in couples with thalassaemia trait by chorionic villous sampling. METHODS A total of 60 couples with children suffering from transfusion dependent beta-thalassaemia or couples who were known carriers of beta-thalassaemia were included in this study. The standard procedure was followed for the collection of samples which was f...
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In this study we have characterised by oligonucleotide hybridisation and direct restriction endonuclease analysis the beta thalassaemia mutation in 494 Sardinian beta thalassaemia heterozygotes. The most prevalent mutation, accounting for 95.4% of the cases, was the nonsense mutation at codon 39. The remainder, in decreasing order of frequency, were a frameshift at codon 6 (2.2%), beta + IVS-1,...
متن کاملSpectrum of beta-thalassaemia mutations in transfusion dependent thalassaemia patients: practical implications in prenatal diagnosis.
The study concerned the identification of the beta-thalassaemia mutations that were present in 24 patients with beta-thalassaemia major who were transfusion dependent. The application of a modified polymerase chain reaction, the amplification refractory system (ARMS) was found to be an effective and rapid method for the identification of the beta-thalassaemia mutations. Six different mutations ...
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ژورنال
عنوان ژورنال: BMJ Case Reports
سال: 2018
ISSN: 1757-790X
DOI: 10.1136/bcr-2018-225802