Thalassemia intermedia in HbH-CS disease with compound heterozygosity for .BETA.-thalassemia: Challenges in hemoglobin analysis and clinical diagnosis
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منابع مشابه
Thalassemia intermedia in HbH-CS disease with compound heterozygosity for beta-thalassemia: challenges in hemoglobin analysis and clinical diagnosis.
Co-inheritance of alpha-thalassemia with homozygosity or compound heterozygosity for beta-thalassemia may ameliorate beta-thalassemia major. A wide range of clinical phenotypes is produced depending on the number of alpha-thalassemia alleles (-alpha/alphaalpha --/alphaalpha, --/-alpha). The co-inheritance of beta-thalassemia with alpha-thalassemia with a single gene deletion (-alpha/alphaalpha)...
متن کاملDouble heterozygocity for hemoglobin C and beta thalassemia dominant: A rare case of thalassemia intermedia
Beta thalassemia dominant results from mutations in the β globin chain gene resulting in the production of elongated, highly unstable beta globin chains. Several such mutations have been described and in a heterozygous state they may confer a phenotype more severe than that of β thalassemia trait and lead to a clinical syndrome of thalassemia intermedia and its associated complications such as ...
متن کاملGuidelines for diagnosis and management of Beta-thalassemia intermedia.
Beta-thalassemia intermedia (β-TI) is a genetic variant of beta-thalassemias with a clinical disorder whose severity falls between thalassemia minor and thalassemia major. Different genetic defects are involved in this disorder and, based on severity of disease, clinical complications like skeletal deformities and growth retardation, splenomegaly, extramedullary hematopoiesis, heart failure, an...
متن کاملMalignancies in patients with beta-thalassemia major and beta-thalassemia intermedia: a multicenter study in Iran.
BACKGROUND Beta thalassemia is one of the most common genetic disorders in the world. The aim of this study was to determine the frequency, characteristics, and pattern of malignancies in patients with beta thalassemia major (BTM) and beta thalassemia intermedia (BTI) in Iran. METHODS We conducted a multicenter study via a retrospective chart review of patients with BTM and BTI between 2002 a...
متن کاملBeta-thalassemia intermedia associated with moyamoya syndrome.
Moyamoya syndrome (MMS) is a progressive disorder. We report a 19-year-old boy with beta-thalassemia who presented with a left hemiparesis. Brain MRI showed old middle cerebral artery and left frontal subcortical white matter infarcts. Brain magnetic resonance angiography and digital subtraction angiography revealed occlusion of the bilateral internal carotid arteries with a rich network of bas...
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ژورنال
عنوان ژورنال: Genes & Genetic Systems
سال: 2009
ISSN: 1341-7568,1880-5779
DOI: 10.1266/ggs.84.67