A homozygous KLF1 gene mutation presenting as mild Thalassemia Intermedia unraveled by targeted Next Generation Sequencing
نویسندگان
چکیده
منابع مشابه
Thalassemia intermedia resulting from a mild beta-thalassemia mutation.
We investigated the molecular basis for a mild phenotype in a group of patients with beta(+) thalassemia originating from Northern Sardinia by definition of the beta-thalassemia mutation, alpha-globin mapping and beta-globin haplotype determination. In nine patients, we detected the compound heterozygous state for the -87 promoter mutation and the codon 39 nonsense mutation; in one patient, we ...
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In hemolytic anaemia there is shorter than normal erythrocytic survival resulting in increased destruction of red blood cells (RBCs) which leads to raised bilirubin levels. Appearance of jaundice, however, depends not only Upon increased biirubin production but also on clearance mechanisms in the liver. These clearance mechanisms are not well developed in the neonates resulting in greater incid...
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UNLABELLED In consanguineous families, as a result of inheriting the same genomic segments through both parents, the individuals have stretches of their genomes that are homozygous. This situation leads to the prevalence of recessive diseases among the members of these families. Homozygosity mapping is based on this observation, and in consanguineous families, several recessive disease genes ha...
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ژورنال
عنوان ژورنال: Canadian Journal of Biotechnology
سال: 2017
ISSN: 2560-8304
DOI: 10.24870/cjb.2017-a72