Coexistence of thalassemia syndrome with myeloproliferative neoplasias
-- case series.
Introduction: Thalassemia and myeloproliferative neoplasias (MPNs) are
two separate disease entities. Thal. is an inhereted congenital
hemolytic anemia caused by abnormal globin gene synthesis. MPNs are
acquired clonal hematopoietic stem cell diseases characterized by the
proliferation of different hematopoietic stem cells. The coexistence of
thal. and MPNS are rarely reported. Methods: We performed a
single-center retrospective analysis of all cases known to have thal.
including patients developing persistent high levels of hemoglobin or
platelet. The diagnosis of MPN was confirmed by genetic testing from
peripheral blood, bone marrow biopsy and blood film analysis. Results:
In this case series, we report six cases with coexistence of alpha(α),
beta(β) and delta-beta (δβ) thal. with different types of MPNs including
essential thrombocytosis ( ET ) and polycythemia vera. Majority of these
patients had positive Janus kinase (jak 2) mutation, except for one
patient with diagnosis of ET who had calreticulin (CALR) gene mutation.
Most of the patient in our case series are younger than average age for
the diagnosis of MPNs.