Beta Thalassemia Minor In this condition, a single aberrant beta globin gene is present on one chromosome 11. The result is mild anemia--or no anemia at all. RBC's have reduced MCV and MCH, resulting in microcytosis and hypochromia . OR Hemoglobin electrophoresis will demonstrate double the normal amount of hemoglobin A2, about 3 to 6%, and up to 5% hemoglobin F, as shown below with HPLC method.
Case 2
Beta Thalassemia Major Inheritance of two abnormal beta globin genes results in beta thalassemia major. If both genes code for beta-0, then hemoglobin electrophoresis will reveal absence of hemoglobin A, about 5 to 10% hemoglobin A2, and over 90% hemoglobin F. If one or both genes are beta+, then there can be 1 to 2% hemoglobin A, as shown below with HPLC method.
Case 3
Sickle Cell Trait Laboratory findings with sickle trait include hemoglobin electrophoresis that demonstrates approximately 40 to 45% hemoglobin S, 55 to 60% hemoglobin A, and normal amounts (1 to 3%) of hemoglobin A2. as shown below by the HPLC method. A test for sickling can also be performed.
Sickle Cell Anemia The hemoglobin electrophoresis will demonstrate 90 to 95% hemoglobin S, 1 to 3% hemoglobin A2, and 5 to 10% hemoglobin F, as shown below with HPLC method. The sickle test will, of course, be positive.
Case5
Hb C Trait Persons heterozygous for the C gene will have no significant problem, and a peripheral blood smear will reveal the presence of occasional target cells. Hemoglobin electroporesis will demonstrate about 40 to 50% hemoglobin C and 50 to 60% hemoglobin A, as shown above.
Case 6
Hb C Hemoglobin electrophoresis will demonstrate 90 to 95% hemoglobin C and 1 to 7% hemoglobin F, as shown below
1: β thalassaemia trait; Line 2: Normal adult; Line 3: Homozygous β + thal ; Line 7: Normal newborn; Line 8: HbA / HbE ; Line 9: HbA / HbC ; Line 10: HbA / HbS ; Line 11: HbS / HbC .
Q-32 What are the diagnosis of 1,2,3,4,5?
Answer- Normal Thalassaemia trait Sickle cell major Hb-C disese Thalassaemia-major
Osmotic fragility Osmotic fragility increased in spherocytosis Osmotic fragility decreased in iron defeciency Thalassemia Sickel cell
Ham test-PNH Apt/ Kleihauer -fetal RBC identification Brewers test-G6PD