Hemophilia-All you need to know
Dr. Taimur Shahzad
Hemophilia is a rare, bleeding disorder characterized by uncontrolled bleeding or inability of the blood to clot. It is inherited in X-linked recessive pattern and hence tends to affect males more than females. In 20% of the cases, it is caused by spontaneous genetic mutation and affects individual with no family history. Let’s have a deeper look into the causes, symptoms, diagnosis and management of Hemophilia.
What is Hemophilia?
As mentioned earlier, it is an inherited bleeding disorder with deficiency of certain plasma clotting factors. There are two types of the disease;
- Hemophilia A – This is the more common type among the two and is caused by the deficiency of functional plasma clotting factor 8 (VIII).
- Hemophilia B – This is the less common type and is caused by deficiency of functional plasma clotting factor 9 (IX).
Hemophilia A is four times more common than hemophilia B. According to World Federation of hemophilia (WFH), “Worldwide, Hemophilia A affects 1 in 5000-10,000 male births, while hemophilia B being less common affects 1 in 20,000 – 34,000 male births.”
Signs & Symptoms of Hemophilia
Hemophilia mostly affects all the systems in the body. The severity depends on the amount of functional clotting factor present. Normally the bleeding time in affected individuals is more as compared to unaffected individuals. Here are the few commonly present symptoms;
1. Generalized weakness
2. Tachypnea (fast breathing), Tachycardia (pulse >90)
3. Joint bleeding leading to stiffness, pain and difficulty in movement.
4. Hematemesis (bloody vomiting), Melena (blackened stools), bleeding per rectum.
5. Hematuria (bleeding in urine)
6. Massive bleeding after dental procedures, surgeries, post circumcision.
7. Heavy menstrual bleeding.
8. Epistaxis or nasal bleeding.
Why Does It Effects Males More Than Females?
It is carried on X chromosome. Females with one affected X chromosome become a carrier while rarely both the X chromosome are abnormal causing the disease in the female baby.This is only possible when both the parents are affected by the disease or the father is affected while mother is a carrier and gives away the abnormal X chromosome.
In case of male babies, the baby only needs a single abnormal X chromosome for the disease to occur as the other Y chromosome has no role in this regard. Hence a mother who is a carrier will cause a female baby to be a carrier while a male baby to be affected by the disease.
Diagnosis of Hemophilia
Hemophilia is mostly diagnosed just after the birth clinically. Definitive diagnosis is made through following tests;
1. Coagulation studies- prolonged APTT, normal PT
2. Factor VIII and Factor IX Assays- reduced amount of clotting factors
Management Of Hemophilia
Management of Hemophilia depends on the type and severity of the disease. Mild and moderate cases of hemophilia A can be managed by Desmopressin (DDAVP), which is a synthetic protein helps in activating Factor VIII. Other than this replacement with human plasma concentrates of Factor VIII and IX prior to surgery in mild or moderate cases or time to time in severe cases also helps in this regard. Tranexamic acid and aminocorpric acid also helps in preventing breakdown of nasal clots and post dental procedure clots.
In Pakistan there are no statistics available regarding the prevalence of Hemophlia. Hence in spite of the increasing cases of the disease annually, no proper medical care is available for the affected individuals. It’s high time the practitioners and government should take steps to make medical treatment available in order to reduce hurdles faced by this disease affected individuals.