ž Complete blood count (CBC)
ž Haemoglobin electrophoresis
ž Family genetic study
ž Antenatal test : Amniocentesis
Complete Blood Count (CBC)
ž Test using electronic blood cell counter
ž Blood is drawn from vein In
— Arm
— Fingerstick
— heelstick
ž Automated count of the cells in the blood.
ž Provide information of WBC, RBC and platelet populations present
— Number
— Type
— Size
— Shape
ž Compare to normal ranges of blood populations and abnormalities are noted
ž Mean Corpuscular Volume (MCV)
— Smaller than normal
ž Mean Corpuscular Haemoglobin (MCH)
— Weight lighter than normal RBC
— Paler than normal RBC
ž Test for total conc. of haemoglobin
— Lower conc. of haemoglobin
Haemoglobin Electrophoresis Test
ž Identifies abnormal Hb proteins by the way they migrate in an electric field.
ž Separating the Hb from each other
— Allow the identification of diff. types of Hb.
ž Eg. Beta-thalassemia
— X Hb A
— High level of Hb F
ž Thalessamia intermidiate
— More Hb A than affected person but lower than unaffected person
— Higher Hb F
ž Carrier of thalessemia
— Normal level of Hb A
— Low level of Hb F
Amniocentesis (antenatal test)
ž Take a sample of amniotic fluid of placenta
ž Test done on the fluid to show whether the baby has thalassemia and how severe it it.
Genetic Studies
ž Help diagnose genetic disorder in family
— Thalassemia are passed from parents to children
ž This involves
— Taking medical history
— Doing blood tests on family members
○ To show whether there is any missing or altered Hb gene
Alternative method :
ž Modified osmotic fragility (OF) test
ž Modified dichlorophenolindophenol (DCLP) test
— They are carried together
— Less effective
— Cheaper
Iron test
ž Test on the amount of iron in the blood
— To find out whether the anaemia is due to iron deficiency or thalassemia
ž Iron-deficiency anaemia – X enough iron to make Hb
ž Anaemia in thalassemia
— Problem in alpha globin chain or beta globin chain of the Hb, not because of a lack of iron.
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