Diagnosis for Hemophilia

       I.  FAMILIES WITH A HISTORY OF HEMOPHILIA

If there is any family history of bleeding disorder for instance bruises, surgery or unexplained deaths among siblings or relatives should be considered and need to discuss with doctor to confirm if hemophilia was the cause. Besides that, those individuals who have or had family members with hemophilia will ask their baby boy to get examined soon after birth because this disorder has higher possibility to occur in males more than females. Not only that, in the best cases, testing for hemophilia is planned before the baby’s delivery so that a sample can be drawn from the umbilical cord blood immediately after birth. This sample will be tested to predict the level of clotting factors. Apart from this, the umbilical cord blood is better for testing hemophilia at determining low levels of factor VII (8) than it is finding low levels of factor IX (9). This is because the factor IX (9) levels will takes more time to develop and it is not at a normal level until a baby’s age about 6 months. 

    II.   FAMILIES WITH NO PREVIOUS HISTORY OF HEMOPHILIA

About 33.33% of babies who are diagnosed with hemophilia have no other family members with this type of disorder.

A doctor might do check up for hemophilia in a newborn if:

-         Unusual raised injuries (if a child is not diagnosed with hemophilia during newborn period, the family might noticed unusual bruising once the child started to crawl or stand).

-         Bleeding in the scalp or brain after a difficult delivery or after using special devices to help deliver of infant.

-         Bleeding goes on for a long period of time after drawing blood as a sample and pricking the infant’s heel to draw blood for neonates screening tests.

     A. TESTS DURING PREGNANCY

1) AMNIOCENTESIS

§       Is a medical procedure in which amniotic fluid is removed from the uterus for testing and usually during weeks of 15 to 20 of pregnancy.

§       This amniotic fluid contains the fetal cells and several types of chemicals produced by the baby.                                                                                                                 

 2)      CHORIONIC VILLUS SAMPLING (CVS)

§        Is a medical procedure in which sample of chorionic villi is removed from the placenta for testing usually during weeks of 10 and 13 of pregnancy.

§        The sample can be taken through the cervix called as the transcervical or the abdominal wall called as the transabdominal.

 B.   SCREENING TESTS

1)  COMPLETE BLOOD COUNT TEST

Ø  The most common test to measure the amount of hemoglobin, the number and size of erythrocytes and the number of different types of leukocytes with platelets found within blood plasma.

  

2) ACTIVATED PARTIAL THROMBOPLASTIN TIME (APTT) TEST

          Ø  This test helps to determine the ability for blood to clot.

          Ø  Examples of clotting factors are Factors VII (8), IX (9), XI (11) and XII (12).

          Ø  The blood clot may be affected by:

                      §  A change in the activity of any of the clotting factors.

                      §  Low levels of blood clotting factors.

                      §  The absence of any of clotting factors.

                      §  Other substances like inhibitors may affect the clotting factors.

                      §  An increase in the use of the clotting factors.

3) CLOTTING FACTORS TESTS

Ø This test is also known as factor assays which helps to predict the severity of Hemophilia.

SEVERITY	LEVELS OF FACTOR VII (8) OR FACTOR IX (9)
NORMAL	50%  TO 100%
MILD HEMOPHILIA	Greater than 5% but less than 50%
MODERATE HEMOPHILIA	1% to 5%
SEVERE HEMOPHILA	Less than 1%