Myeloproliferative neoplasms complicated with β-thalassemia: Two case report

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]	Thomas[18]	Castro[20]	Martinez-Lopez et al[22]
Age/Sex	33/F	61/M	75/F	29/M	68/F	71/F	48/F	19/F
Thalassemic disorder	β-thalassemia minor	β-thalassemia minor	β-thalassemia minor	α- thalassemia	β-thalassemia minor	β-thalassemia minor	Sickle cell β-thalassemia minor	Delta-β-thalassemia minor
MPN subtypes	Essential thrombocythemia	Primary myelofibrosis	Polycythemia vera	Primary myelofibrosis	Polycythemia vera	Polycythemia vera	Polycythemia vera	Polycythemia vera
Splenomegaly	Yes	Yes	No	Yes	Yes	Yes	No	Yes
Erythrocyte count	5.26 × 1012/L	4.21 × 1012/L	9.0 × 1012/L	NR	9.3 × 1012/L	7.4 × 1012/L	8 × 1012/L	NR
Total blood hemoglobin	106 g/L	92 g/L	154 g/L	103 g/L	155 g/L	156 g/L	144 g/L	142 g/L
White cell count	10.9 × 109/L	34.7 × 109/L	13.5 × 109/L	Normal	18.5 × 109/L	14 × 109/L	8 × 109/L	22.5 × 109/L
Platelet count	1396× 109/L	18 × 109/L	500 × 109/L	Normal	NR	486 × 109/L	1233 × 109/L	193 × 109/L
MPN gene mutation	Negative	Type 1 (49-bp) deletion in exon 9 of CALR	JAK2 V617F	Type 1 (52-bp) deletion in exon 9 of CALR	Not assessed	Not assessed	Not assessed	JAK2 V617F
Karyotype	46, XX	46, XY, t(11;18)(q13;p11.2), ins(17;17)(q21;q25q12)	NR	46, XY, t(3;12)(p21;q13)	Not assessed	Not assessed	Not assessed	46, XX
Marrow biopsy	Proliferation of giant megakaryocytes with hyperlobulated nuclei	Reticulin graded as 4+ myelofibrosis	Panmyelosis	Stromal fibrosis and clusters of pleomorphic megakaryocytes	Not assessed	Not assessed	Increased megakaryocytes plus fibrosis	Prominent conspicuous megakaryocyte proliferation in clusters and minimal reticulin fibrosis
Treatment	Hydroxyurea and interferon	Interferon→ruxolitinib	Hydroxyurea	NR	Phlebotomy	Phlebotomy	Busulfan→Phlebotomy→Mustard	Hydroxyurea and interferon→ruxolitinib

MPN: Myeloproliferative neoplasm; NR: Not reported.