Background: Hereditary Hemochromatosis(HH) is a common genetic disorder of iron overload where the large majority of patients are homozygous for one ancestral mutation in the HFE gene. In spite of this remarkable genetic homogeneity, the condition is clinically heterogeneous, varying from a severe disease to an asymptomatic phenotype with only abnormal biochemical parameters. The recent recognition of the variable penetrance of the HH mutation in different large population studies demands the need to search for new modifiers of its phenotypic expression. The present study follows previous observations that MHC class-I linked genetic markers, associated with the setting of CD8+ T-lymphocyte numbers, could be clinically relevant modifiers of the phenotypic expression in HH, and aimed to find new markers that could be used as more reliable prognostic variables.
A multiply transfused Rh-positive patient with congenital dyserythropoietic anemia type II or hereditary erythroblastic multinuclearity with a positive acidified serum test is described in whom a transient anti-D was accompanied by a positive direct antiglobulin test. A brief review of the literature and possible mechanisms for this observation are presented.
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