Question

DC a 5-year-old child was admitted to the ER because of bleeding episode. He fell from the swing while playing and had a 3-inch gash on his forehead which won’t stop bleeding even when ice was applied on it. This is the first time he had an accident. When the doctor came, he asked the parents if they have a history of bleeding in the family but both parents cannot remember any. The doctor said DC probably has a bleeding condition that could be hereditary. The doctor asked the mother specifically if she has any male relative with a similar condition. Both parents are curious why specifically the mother was the one being asked.

         DC’s mother recalls that as a growing up boy, DC would frequently have “dark marks” on his skin which she thought are stains from dirt when he plays. He would also have bleeding gums every now and then but she thought it was due to his tooth decay. DC is also fond of picking on his nose which would bleed when poked. Lately, they noticed that he limps and when asked why, Lately, JS says his knees hurts and it was observed to be swollen already .DC will have to probably be admitted for immediate transfusion of a clotting factor that was quite expensive.

1. Based on the symptoms presented by DC, what medical condition are you suspecting that he has? Defend your answer by enumerating the proofs from the scenario? Based on the symptoms presented by DC, what medical condition are you suspecting that he has? Defend your answer by enumerating the proofs from the scenario?

2. If the doctor said the condition could be hereditary, how did DC get it? What are the chances of having a sibling with the same condition as he has? Explain. What do you call this genetic pattern of transmission?

3. What would be the cause of his knee pains? What is this condition and why does this happen?

Answer 1

1.Hemophilia is the medical condition are you suspecting that he has.It is perhaps the most well-known inherited bleeding disorder, although it is relatively rare. It affects mostly males.

Hemophilia is almost always inherited, although in rare cases they can develop later in life if the body forms antibodies that fight against the blood's natural clotting factors. Symptoms of bleeding disorders may include:

*Easy bruising

*Bleeding gums

*Heavy bleeding from small cuts or dental work

*Unexplained nosebleeds

*Heavy menstrual bleeding

*Bleeding into joints

*Excessive bleeding following surgery

2.DC get it from his mother.

Hemophilia can range from mild to severe, depending on clotting factor is present in the blood. Hemophilia is classified as type A or type B, based on which type of clotting factor is lacking (factor VIII in type A and factor IX in type B). Hemophilia results from a genetic defect found on the X chromosome. Women have two X chromosomes. Women who have one X chromosome with the defective gene are termed carriers and they can pass the disease onto their sons. Due to random chromosome activation, some women carriers may range from asymptomatic to symptomatic depending on how much of their factor VIII or IX is inactivated. In fact, some women may have “mild hemophilia,” though this is less common. Men have one X and one Y chromosome, so if their X chromosome has the defective gene, they will have hemophilia.

Because it is unlikely that females will have two altered copies of this gene, it is very rare for females to have hemophilia.

If he would have a male sibling, probability is there get same disorder.

*X linked recessive pattern is the genetic pattern of transmission.

3.Target joints_Joints that bleed often are usually referred to as “target joints”.

The most common complication of hemophilia is joint disease. A joint is an area where two bones come together. People with hemophilia can bleed into the joint space after an injury or, at times, without obvious cause. The pressure of blood filling the joint cavity causes significant pain and can lead to chronic swelling and deformity. Joint damage can occur after repeated bleeding into the same joint or after one serious joint bleed. The joints typically affected include the elbows, ankles and knees.