Pediatric Nursing Demystified

Hemophilia

Hemophilia is a group of congenital bleeding disorders due to a deficiency of

specific coagulation proteins. This condition occurs most commonly in per-

sons of African descent, possibly as a genetic adaptation in trait carriers as

protection from malaria.

What Went Wrong?

Hemophilia results most often from a genetic defect and most commonly a

deficiency of factor VIII (hemophilia A) or factor IX (hemophilia B, or Christ-

mas disease). However, a third of hemophilia cases occur from gene mutation.

The X-linked form of the condition is passed when an affected male (XhY)

mates with a female carrier (XhX) producing a 1 in 4 chance of the offspring

having a girl or having a boy with the disease, having a female carrier, or hav-

ing a child without the disease or trait. The female carrier can also be symp-

tomatic.

Signs and Symptoms

Bleeding of varied degrees depending on severity of deficiency:

• Spontaneous bleeding


• Bleeding with trauma


• Bleeding with major trauma or surgery
  Hemarthrosis(bleeding into the joints) in the knees, elbows, and ankles
  begins with stiffness, tingling, or ache as early sign of bleeding, pro-
  gressive damage.
  Warmth, redness, swelling, and severe pain and loss of movement.

2

(^136) Pediatric Nursing Demystified

1. Why should a client with sickle cell anemia be concerned if he or she marries a
   person with the sickle cell trait?
   Answer:


2. What defect is most commonly caused by anemia?
   a. Increased red blood cell count and blood viscosity
   b. Depressed hematopoietic system and hyperactivity
   c. Increased presence of abnormal hemoglobin
   d. Decreased capacity of blood to carry oxygen
   Answer:

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