Thalassemia refers to a group of inherited hemoglobinopathies where there is a quantitative defect in the production of alpha globin or beta globin chains. The resulting imbalance in the ratio of alpha to beta globin chains leads to precipitation of the unpaired chains, which in turn causes destruction of developing red blood cell precursors in the bone marrow that can lead to ineffective erythropoiesis, anemia, and iron overload.
Lab tests:
CBC and Automated Differential
Blood Smear with Interpretation
Iron and TIBC
Hemoglobin electrophoresis
DNA testing (Prenatal diagnosis)
References:
- http://www.thalassaemia.org.cy/uploads/1466152679tifguidelinesformanagementfinalmerged.pdf (Accessed on May 12, 2017).
- http://thalassemia.com/#gsc.tab=0 (Accessed on May 12, 2017).
- Rachmilewitz EA, Giardina PJ. How I treat thalassemia. Blood 2011; 118:3479.
- Higgs DR, Engel JD, Stamatoyannopoulos G. Thalassaemia. Lancet 2012; 379:373.
- Liu C, Grossman BJ. Red blood cell transfusion for hematologic disorders. Hematology Am Soc Hematol Educ Program 2015; 2015:454.
