Phenotype-genotype correlation in β-thalassemia
نویسندگان
چکیده
منابع مشابه
Genotype-phenotype correlation of β-thalassemia spectrum of mutations in an Indian population
Coexistence of thalassemia, hemoglobinopathies and malaria has interested geneticists over many decades. The present study represents such a population from the eastern Indian state of Orissa. Children and their siblings (n=38) were genotyped for β-thalassemia mutations and genotype-phenotype correlation was determined. The major genotype was IVS 1.5 mutation: 26% homozygous (n=10) and 37% (n=1...
متن کاملTBC1D24 genotype–phenotype correlation
OBJECTIVE To evaluate the phenotypic spectrum associated with mutations in TBC1D24. METHODS We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, identified through various sequencing methods, can be found online (http://lovd.nl/TBC1D24). RESULTS Forty-eight patients were included (28 men, 20 women, average age 21 year...
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B eta-thalassemias are heterogeneous autosomal recessive hereditary anemias characterized by reduced or absent b globin chain synthesis. The resulting relative excess of unbound a globin chains precipitate in erythroid precursors in the bone marrow, leading to their premature death and, hence, to ineffective erythropoiesis. b-thalassemia phenotypes are variable, ranging from the severe transfus...
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β-Thalassemia is the most common inherited disorder in Azerbaijan. The aim of our study was to reveal genotype-to-phenotype correlations of the most common β-thalassemia mutations in an Azerbaijani population. Patients with codon 8 (-AA), IVS-I-6 (T>C), and IVS-II-1 (G>A) mutations, which are reportedly the most common β-globin gene mutations among the local population, were tested for hematolo...
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ژورنال
عنوان ژورنال: Thalassemia Reports
سال: 2012
ISSN: 2039-4365,2039-4357
DOI: 10.4081/thal.2011.s2.e6