Case Report
Copyright ©The Author(s) 2022.
World J Clin Cases. Oct 16, 2022; 10(29): 10655-10662
Published online Oct 16, 2022. doi: 10.12998/wjcc.v10.i29.10655
Table 1 Clinical and laboratory summary of the reported cases of coexistent β-thalassemia and myeloproliferative neoplasms
Patient characteristics
Case 1
Case 2
Lopes da Silva et al[21]
So et al[23]
Ifran et al[19]
Martinez-Lopez et al[22]
Thalassemic disorderβ-thalassemia minorβ-thalassemia minorβ-thalassemia minorα- thalassemiaβ-thalassemia minorβ-thalassemia minorSickle cell β-thalassemia minorDelta-β-thalassemia minor
MPN subtypesEssential thrombocythemiaPrimary myelofibrosisPolycythemia veraPrimary myelofibrosisPolycythemia veraPolycythemia veraPolycythemia veraPolycythemia vera
Erythrocyte count5.26 × 1012/L4.21 × 1012/L9.0 × 1012/LNR9.3 × 1012/L7.4 × 1012/L8 × 1012/LNR
Total blood hemoglobin106 g/L92 g/L154 g/L103 g/L155 g/L156 g/L144 g/L142 g/L
White cell count10.9 × 109/L34.7 × 109/L13.5 × 109/LNormal18.5 × 109/L14 × 109/L8 × 109/L22.5 × 109/L
Platelet count1396× 109/L18 × 109/L500 × 109/LNormalNR486 × 109/L1233 × 109/L193 × 109/L
MPN gene mutationNegativeType 1 (49-bp) deletion in exon 9 of CALRJAK2 V617FType 1 (52-bp) deletion in exon 9 of CALRNot assessedNot assessedNot assessedJAK2 V617F
Karyotype46, XX46, XY, t(11;18)(q13;p11.2), ins(17;17)(q21;q25q12)NR46, XY, t(3;12)(p21;q13)Not assessedNot assessedNot assessed46, XX
Marrow biopsyProliferation of giant megakaryocytes with hyperlobulated nucleiReticulin graded as 4+ myelofibrosisPanmyelosisStromal fibrosis and clusters of pleomorphic megakaryocytesNot assessedNot assessedIncreased megakaryocytes plus fibrosisProminent conspicuous megakaryocyte proliferation in clusters and minimal reticulin fibrosis
TreatmentHydroxyurea and interferonInterferon→ruxolitinibHydroxyureaNRPhlebotomyPhlebotomyBusulfan→Phlebotomy→MustardHydroxyurea and interferon→ruxolitinib