Skeletal and extraskeletal manifestations of mixed alpha and beta thalassemia
نویسندگان
چکیده
A 33-year-old male with known thalassemia intermedia presented with acute mid-back pain. Radiography and MRI were useful to evaluate the extent of iron deposition and assess for complications (such as cirrhosis) of the disease.
منابع مشابه
Identification of a Neonate with Thalassemia Intermedia Despite Premarital Screening Program in Mazandaran Province (Co-inheritance of Hb Knossos and IVS II-1 G> A Mutations)
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Abstract Thalassemia syndromes are the most common inherited hemoglobinopathies in the world characterized by various degrees of defective production of the alpha or beta globin chains. Impairment in alpha chain or beta chain synthesis leads to alpha thalassemia and beta thalassemia syndromes respectively. Iran is one of the countries located on the thalassemia belt therefore this disease is ...
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In this article we report a Sardinian family, in which a beta-thalassemia gene and a triple alpha-globin loci, counterpart of the rightward deletion type alpha-thalassemia-2, were segregating. The analysis of the genotype-phenotype correlations in the different family members allowed us to give an outline of the manifestations associated with different genotype combinations. The heterozygote fo...
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عنوان ژورنال:
دوره 7 شماره
صفحات -
تاریخ انتشار 2012