From the Guidelines
Thalassemia is typically characterized by microcytic hypochromic anemia with reduced hemoglobin levels, decreased mean corpuscular volume (MCV), and decreased mean corpuscular hemoglobin (MCH), as well as abnormal hemoglobin patterns on hemoglobin electrophoresis, such as elevated HbA2 (>3.5%) and HbF (>2%) in beta thalassemia 1. The laboratory findings associated with thalassemia include:
- Microcytic hypochromic anemia with reduced hemoglobin levels
- Decreased mean corpuscular volume (MCV)
- Decreased mean corpuscular hemoglobin (MCH)
- Abnormal hemoglobin patterns on hemoglobin electrophoresis
- Elevated HbA2 (>3.5%) and HbF (>2%) in beta thalassemia
- Normal or elevated red blood cell distribution width (RDW)
- Normal or increased ferritin and normal transferrin saturation, which helps distinguish thalassemia from iron deficiency anemia In severe forms, additional findings may include:
- Elevated bilirubin levels indicating hemolysis
- Elevated liver enzymes from iron overload
- Abnormal kidney function tests These laboratory abnormalities occur because thalassemia involves genetic mutations affecting globin chain production, resulting in imbalanced hemoglobin synthesis and ineffective erythropoiesis 1. A low MCV and an RDW of less than or equal to 14.0% can indicate thalassemia minor, whereas a low MCV and an RDW of greater than 14.0% indicates iron-deficiency anemia 1. The most recent and highest quality study recommends integrating clinical and molecular insights into daily practice to avoid unnecessary delay in diagnosis, invasive or costly diagnostic tests, and harmful treatments 1.
From the FDA Drug Label
Table 2 Number (%) of Patients with Increases in Serum Creatinine or SGPT/ALT in Study 1, Study 3, and MDS Pool
Study 1 (Beta-thalassemia) Laboratory Parameter Deferasirox N=296 n (%) Serum Creatinine Creatinine increase >33% at 2 consecutive post-baseline visits 113 (38) SGPT/ALT SGPT/ALT >5 x ULN at 2 consecutive post-baseline visits 17 (6)
The lab results associated with Thalassemia include:
- Serum Creatinine increase >33% at 2 consecutive post-baseline visits: 38% of patients in Study 1 (Beta-thalassemia)
- SGPT/ALT >5 x ULN at 2 consecutive post-baseline visits: 6% of patients in Study 1 (Beta-thalassemia) 2