Question

Which diagnosis best correlates to the following results obtained on a 72-year-old female? Case Study Results 6.2 Analyte Result Hgb (g/dL) MCV (FL) 114 MCH (p) 38 MCHC (g/dL) 34.3 RDW (%) 15.6 Ferritin (ng/mL) 120 Serum Iron (ug/dL) TIBC (ug/dL) 330 Transferrin Saturation (%) 26 Reference Interval 12.0-16.0 80-100 28-34 32.0-36.0 <14.0 12-200 50-180 250-450 15-50 56 Select one: a. Megaloblastic Anemia b. Thalassemia O c. Hemoglobin C Disease O d. Sickle Cell Anemia

Answer 1

Correct answer is

Option: A

Given test results indicates that patient is anaemic and MCV and MCH both are elevated which indicates that cells are megaloblastic. Megaloblastic anaemia is a type of anaemia, in which the number of red blood cells is lower than normal but size of red blood cells is larger than normal. It may happen due to deficiency of vitamin B 12 or folic acid or both. It is also seen in various types of blood cancers. Normal TIBC, serum iron, ferritin and transferrin saturation again rule out iron deficiency (microcytic hypochromic anaemia in iron deficiency). Hence patient needs to be further evaluated for cause of megaloblastic anaemia.

Haemoglobin C disease is a condition affecting a protein in the blood (haemoglobin) which transports oxygen throughout the body and is caused by a mutation in the gene that provides instructions to the body to make haemoglobin. It runs in the families and is often found during new-born screening tests.

Sickle cell disease is an inherited blood disorder in which the body produces red blood cells with abnormal haemoglobin, known as haemoglobin S(HbS). Sickle cell disease is a lifelong condition; people with sickle cell disease have it from birth. Crescent or sickle shaped cells stick together in clumps and become lodged in blood vessels and block the flow of healthy, oxygenated blood to the body’s organs and tissues. Results of body's level of iron are elevated in sickle cell patients due to multiple blood transfusions

Thalassemia is also a genetic disorder and is a lifelong condition. A low MCV with ruled out iron deficiency is often indication of thalassemia. Other findings in thalassemia are hypochromic RBC’s ( low MCH, MCHC), variation in size and shape (anisocytosis and poikilocytosis), nucleated RBC’s and uneven haemoglobin distribution. Iron , ferritin total iron binding capacity (TIBC), and percent saturation of transferrin help monitor the degree of iron overload in an individual with thalassemia due to repeated blood transfusion. These all findings are not suggestive of thalassemia.