Testing

Thalassemia or else Mediterranean Anemia is an inherited blood disorder that accounts for a decreased amount of hemoglobin production or the production of abnormal hemoglobin. Hemoglobin in found in red blood cells and is responsible for the distribution of oxygen in the blood.

Sample requirement

A blood sample is required to perform all tests. It is a simple process with only a momentary slight pain from the needle stick.

Method of test used

  • Hemoglobin electrophoresis
  • Iron test
  • Blood smear
  • Complete blood count test

Result parameters

Hemoglobin electrophoresis:

Hemoglobin A1: 96.5%–98.5% of total hemoglobin

Hemoglobin A2: 1.5%–3.5% of total hemoglobin

Hemoglobin F: 0%–1% of total hemoglobin

Abnormal hemoglobin types: none

Complete Blood Count:

Red Blood Cell Count (RBC)

Men: 4.5–5.5 million RBCs per microliter (mcL) or 4.5–5.5 x 1012/liter (L)

Women: 4.0–5.0 million RBCs per mcL or 4.0–5.0 x 1012/L

Children: 3.8–6.0 million RBCs per mcL or 3.8–6.0 x 1012/L

Hemoglobin (Hgb)

Men: 14–17.4 grams per deciliter (g/dL) or 140–174 grams per liter (g/L)

Women: 12–16 g/dL or 120–160 g/L

Children: 9.5–20.5 g/dL or 95–205 g/L

Red Blood Cell Indices

Mean corpuscular volume (MCV): 84-96 femtoliters (fL)/ low MCV is an indication for thalassemia if iron-deficiency is not a factor.

Mean corpuscular hemoglobin (MCH): 28-34 picograms (pg) per cell

Mean corpuscular hemoglobin concentration (MCHC): 32–36 grams per deciliter (g/dL)

Iron test

Serum Iron:

Men: 70–175 micrograms per deciliter (mcg/dL) or 12.5–31.3 micromoles per liter (mcmol/L)

Women: 50–150 mcg/dL or 8.9–26.8 mcmol/L

Children: 50-120 mcg/dL or 9.0–21.5 mcmol/L

Total Iron Binding Capacity: 250–450 mcg/dL or 45–76 mcmol/L

Transferrin Saturation:

Men: 10-50%

Women: 15-50%

Blood smear:

Red Blood cells may be low MCV (microcytic), hypochromic, nucleated, uneven hemoglobin distribution, and they may vary in shape (poikilocytosis) and size (anisocytosis).