Thalassemia
Thalassemia is an inherited blood disorder where the body produces an abnormal form or inadequate amount of hemoglobin, the protein in red blood cells that carries oxygen. This results in excessive destruction of red blood cells, leading to anemia.
Common Symptoms
- Fatigue
- Weakness
- Pale or yellowish skin
- Facial bone deformities
- Slow growth
Clinical Sources
- Beta Thalassemia: Symptoms, Causes & TreatmentCleveland Clinic
- Thalassemia: Types, Traits, Symptoms & TreatmentCleveland Clinic
Diagnostic Lab Tests
Tests commonly used to diagnose or monitor Thalassemia:
Mean Corpuscular Hemoglobin (MCH)
MCH calculates the average amount of hemoglobin contained within a single red blood cell. ...
Serum Iron
This test measures the amount of circulating iron that is bound to the transport protein t...
Ferritin
Ferritin is the primary intracellular protein that stores iron and releases it in a contro...
Hereditary Cancer Gene Panel - Focused
The Hereditary Cancer Gene Panel is a specialized genetic test that utilizes Next-Generati...
Ferritin
Ferritin is a universal intracellular protein that stores iron and releases it in a contro...
Total Iron Binding Capacity (TIBC)
TIBC is a functional measure of the maximum amount of iron that can be bound by serum prot...
Hemoglobin C
Hemoglobin C is an abnormal hemoglobin variant caused by a specific mutation in the beta-g...
Hemoglobin S (HbS)
Hemoglobin S is an abnormal variant of hemoglobin that causes red blood cells to become si...
Karyotyping Analysis
Karyotyping Analysis is a cytogenetic test used to examine the full complement of chromoso...
Transferrin Saturation
Transferrin Saturation (TSAT) is a calculated percentage [(Serum Iron / TIBC) x 100]. With...
Serum Iron
Serum iron measures the amount of circulating iron that is bound to transferrin in the blo...
Ferritin
Ferritin is the primary intracellular iron-storage protein and reflects total body iron st...
Hemoglobin Electrophoresis by HPLC
Hemoglobin Electrophoresis by High-Performance Liquid Chromatography (HPLC) is a sophistic...
Serum Ferritin
Ferritin is a blood protein that contains iron. It is the primary way your body stores iro...
All Translocation Panel (Oncquest Lab)
The All Translocation Panel is a sophisticated molecular genetic test designed to detect c...
Serum Total Iron Binding Capacity
Total Iron Binding Capacity (TIBC) is a blood test that measures the blood's capacity to b...
COVID Panel Bio Chemistry
The COVID Biochemistry Panel is a cluster of laboratory tests used to monitor the physiolo...
TCF3-HLF Translocation [t(17;19)]
This is a molecular genetic test looking for the t(17;19)(q22;p13) chromosomal translocati...
Hemoglobin Electrophoresis
Hemoglobin electrophoresis is a blood test used to measure and identify the different type...
Hemoglobin A2
Hemoglobin A2 (HbA2) is a minor variant of adult hemoglobin (composed of two alpha and two...
Hemoglobin F (HbF)
Hemoglobin F is the primary oxygen carrier in a fetus, but it is typically replaced by Hem...
Hemoglobin F
Hemoglobin F (HbF), or fetal hemoglobin, is the primary oxygen transport protein in the hu...
Serum Transferrin
Transferrin is the main protein in the blood that binds to iron and transports it througho...
Iron Deficiency Profile
The Iron Deficiency Profile is a comprehensive panel that typically includes Serum Iron, T...
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