INEFFECTIVE ERYTHROPOIESIS IN PATIENT WITH BETA-THALASSEMIA AND MYELODYSPLASTIC SYNDROME - CASE REPORT

Authors

  • Sanja Trajkova University Clinic for Hematology, Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, Republic of North Macedonia
  • Svetlana Krstevska Balkanov University Clinic for Hematology, Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, Republic of North Macedonia
  • Aleksandra Pivkova Veljanovska University Clinic for Hematology, Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, Republic of North Macedonia
  • Nevenka Ridova University Clinic for Hematology, Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, Republic of North Macedonia
  • Marija Popova Labacevska University Clinic for Hematology, Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, Republic of North Macedonia
  • Zlate Stojanovski University Clinic for Hematology, Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, Republic of North Macedonia
  • Simona Stojanovska University Clinic for Hematology, Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, Republic of North Macedonia
  • Milche Cvetanovski University Clinic for Hematology, Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, Republic of North Macedonia
  • Bozidar Kocoski University Clinic for Hematology, Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, Republic of North Macedonia
  • Mihaela Kebakoska Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, Republic of North Macedonia
  • Andrea Paunovska University Clinic for Hematology, Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, Republic of North Macedonia
  • Rosica Angelovic Dimitrievska University Clinic for Hematology, Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, Republic of North Macedonia
  • Savica Petrovska University Clinic for Hematology, Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, Republic of North Macedonia
  • Dushko Dukovski University Clinic for Hematology, Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, Republic of North Macedonia
  • Irina Panovska Stavridis University Clinic for Hematology, Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, Republic of North Macedonia

Keywords:

Ineffective erythropoiesis, beta-Thalassemia, myelodysplastic syndromes, 5q deletion.

Abstract

Ineffective erythropoiesis and associated anemia are hallmarks of two hematological diseases - myelodysplastic syndromes and thalassemia, treated with regular blood transfusions. Erythropoiesis is a highly regulated process where functional erythrocytes are produced from hematopoietic stem cells, and defects can adversely affect the proliferation, differentiation, and survival of erythroid precursors. Treatments that directly mark the ineffective erythropoiesis are limited. There is unmet requirement for treatments that can restore effective erythropoiesis. Herein, we present a case report of a patient with beta-thalassemia and development of myelodysplastic syndrome with 5q deletion.

References

Steensma DP, Gibbons RJ, Higgs DR. Acquired α-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies. Blood 2005; 105(2): 443–452. doi: 10.1182/blood-2004-07-2792.

Galanello R, Perseu L, Perra C, Maccioni L, Barella S, Longinotti M, et al. Somatic deletion of the normal beta-globin gene leading to thalassaemia intermedia in heterozygous beta-thalassaemic patients. Br J Haematol 2004; 127(5): 604-606. doi: 10.1111/j.1365-2141.2004.05237.x.

Brunner AM, Steensma DP. Myelodysplastic syndrome associated with acquired Beta thalassemia: “BTMDS.” Am J Hematol 2016; 91(8): E325-E327. doi:10.1002/ajh.24400.

Niscola P, Tendas A, Giovannini M, Scaramucci L, Perrotti A, de Fabritiis P. Diagnosis of myelodysplastic syndromes in individuals heterozygous for mutations in the α- and β-globin genes: a reminder for haematologists. Blood Transfus 2014; 12(Suppl 1): s158-s159. doi:10. 2450/2013.0083-13.

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Published

2024-12-11

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Section

Case Reports