Wednesday, April 8, 2009

Screening and Diagnosis

How are Thalassemia diagnosed :

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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