X-bunden trombocytopeni med talassemi i två svenska familjer. Överväg hereditära orsaker till trombocytopeni och
benmärgsfibros
Sammanfattning
X-linked thrombocytopenia with thalassemia in two families in Sweden. Consider hereditary causes of thrombocytopenia and bone marrow fibrosis.
X-linked thrombocytopenia with thalassemia (XLTT) is a rare inherited condition with thrombocytopenia, bleeding diathesis, splenomegaly and a beta-thalassemia trait with elevated HbA2 and HbF. In suspected cases, XLTT is confirmed by sequencing of exon 4 of the GATA-1 gene on the X-chromosome, showing a R216Q mutation. We describe two Swedish families with XLTT in which all investigated males have slight to moderate bone marrow fibrosis, a new finding. The bone marrow fibrosis and splenomegaly have led to false diagnoses of myeloproliferative neoplasias. Inherited conditions should be considered in thrombocytopenic patients without previous record of a normal platelet count, with lifelong symptoms or a family history of bleeding diathesis. Advanced analyses are often needed for a correct diagnosis, but the platelet size can be used for guidance.