Background: BCR-ABL-negative myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell disorders characterized by the proliferation of one or more myeloid lineages and by mutually exclusive JAK2 V617F, CALR, and MPL[A1] mutations. The combination of MPN and thalassemia is extremely unusual. Several cases with myeloproliferative neoplasms and β-thalassemia have been reported. However, these have not been extensively reviewed. The present report describes two cases of myeloproliferative neoplasms complicated with β-thalassemia and reviews all similar cases reported in the literature.
Case summary: We report two patients who were diagnosed with myeloproliferative neoplasms complicated with β-thalassemia. Both patients had abnormal increases in platelet counts. Based on bone marrow pathology and molecular biology assessment, we made the diagnosis of myeloproliferative neoplasms complicated with β-thalassemia. The female patient was given hydroxyurea and interferon, which enabled good control of her blood counts; the male patient was given ruxolitinib tablets, thalidomide tablets, and interferon to control the condition, but the patient poorly responded to drug treatment and died of gastrointestinal bleeding six months later.
Conclusion: Given the findings of our cases and the literature review, we hypothesize that myeloproliferative neoplasms complicated with β-thalassemia can lead to rapid disease progression and a poor prognosis.
Keywords: Case report; Germline gene mutation; Myeloproliferative Neoplasms; Somatic gene mutation; β-thalassemia.
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