approach to haemoglobinpathies Flashcards
how many genes in alpha globin gene ?
2gene
how many genes in beta globin genes ?
1 gene
laboratory diagnosis of hemoglobinopathy ?
CBC and blood film , iron studies
what can confirm spherocytosis in a blood film?
increased osmotic fragility
what is heamoglobin electropheresis?
A hemoglobin electrophoresis test is a blood test used to measure and identify the different types of hemoglobin in your bloodstream
what are the levels referred to in haemoglobin electrophoresis referring to ?
the percentages of different type of haemoglobin
cellulose acetate vs citrate agar ?
cellulose acetate is more commonly used as it has better seperation
what
red cell indicies are useful (MCV and MCH) which are low in thalassemia
what type of anemia in thalassemia ?
hypochromic microcytic anemia
what is the distinguishing factor between thalassemia and other microcytic anemias?
increased RBC count
how do we differentiate between iron deficiency anaemia and thalassemia ?
iron studies
what do iron studies include ?
serum ferritin / serum iron
total iron binding capacity
transferrin saturation
ZPP
when is ZPP increased?
in low iron levels and lead poisoning
when do we consider iron deficiency anemia ?
when serum ferritin is below 12 ng/ml
what is the ph of cellulose acetate
alkaline ph of 8.4-8.6
what is the ph of citrate agar gel electrophoresis ?
acidic ph
what is HPLC?
high performance liquid chromatography which is a method of seperation
what is the test for Hb S
sickling in whole blood, sickle cells are seen in thin wet blood film, sealed with paraffin wax
what is the HB s solubility test ?
sickle cell Hb is insoluble in high molarity phosphate buffer and forms a turbid solution
how can alpha thalassemia be seen in DNA analysis
alpha globin sequencing
MLPA and PCR
how can beta thalassemia be detected in DNA analysis
beta globin sequencing
beta globin deletion or duplication test by MLPA
if i want to separate Hb s from protein HbC what can i use ?
citrate agar gel electrophoresis
what does polychromasia mean ?
increased retics which is a sign of hemolysis
what are Heinz bodies a sign of ?
G6PD
what is basophilic stippling a sign of ?
lead poisoning
