Double heterozygosity for hemoglobin C and beta-thalassemia dominant: A rare case of thalassemia intermedia
[摘要] Beta thalassemia dominant results from mutations in the β globin chain gene resulting in the production of elongated, highly unstable β 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 extramedullary hemopoiesis, bone disease, endocrinopathies and iron overload even in the absence of transfusion. In this report we present a case of double heterozygosity for HbC and β thalassemia dominant leading to a series of complications that were treated successfully once the correct diagnosis was made.
[发布日期] [发布机构]
[效力级别] [学科分类] 血液学
[关键词] Thalassemia;HbC;electrophoresis;DNA analysis [时效性]
