Haemophilia - Symptoms, Causes & Types

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HAEMOPHILIA
A Detailed Understnading

Introduction:
 It is an inherited genetic disorder,
 Impairs the function of blood clotting.
 Increases bleeding upon a small injury
(Delibegovic et al., 2015).

Medicinal Definition:
 It is a bleeding disorder.
 Causes abnormal or exaggerated bleeding.
 The severity varies across individuals (Delibegovic et al., 2015).

Definition Continued:
 It is essentially genetic in nature.
 It is linked to the X chromosomes.
 The recessive pattern of the chromosome
is changed.
 Therefore, males are more likely to get
affected.
 Females are usually the carriers.

Symptoms:
 Increase in the internal or
external bleeding episodes.
 Unexplained bleeding from
small cuts and injuries.
 Deep bruises upon small cuts.
 Swelling and tightness in joints.
 Blood in urine and stool.
 Irritation and nose bleeds.

Causes:
 The blood cells pull themselves together to stop the blood clotting. This process is
impaired.
 Deficiency of the blood clotting factors like, X, XII, VIII and the like.
 Genetic reasons, as it rubs in the family.
 Multiple sclerosis, pregnancy, cancer and autoimmune conditions also cause
hemophilia (Delibegovic et al., 2015).

Hemophilia Types:
Type A:
 A genetic disorder.
 Caused by deficiency or presence of defective VIII
protein.
 Carried by X chromosomes, in a recessive manner (Tiede
et al., 2015).
Type B:
 A genetic disorder.
 Caused by deficiency of factor IX.
 Also inherited by X chromosome (Olsson et al., 2014).

Hemophilia Types:
Type C:
 A genetic disorder.
 Deficiency or absence of XI clotting protein.
 Major clotting factor.

Diagnosis:
 The family case or history is noted.
 Blood tests are provided.
 The platelet count and the bleeding time is measured.
 The pro- thrombin time and the partial thromboplastin time are also noted.
 Specific tests to confirm the levels of VI, VII, XI and the like are suggested, and done
(Mumford et al., 2014).

Severity:
Mild hemophilia (>5% to <40% factor activity):
 Infrequent bleeding.
 Bleeding after trauma or surgery.
 Dental bleeding.
Moderate hemophilia (1% to 5% factor activity):
 Bleeding after injuries.
 Spontaneous bleeding incidents.

Severity:
Severe hemophilia (<1% factor activity):
 Spontaneous bleeding.
 Bleeding into joints and muscles.
 Repeated bleeding incidents (Mumford et al.,
2014).

Treatments:
 Desmopressin, to stimulate and release more blood
clotting factors.
 Clot preserving medications.
 Physical therapy for the damaged joints
 Fibrin Sealants to the wounded sites.
 Vaccinations (Mumford et al., 2014).

References:
 Delibegovic, M., Alispahic, A., Gazija, J., Mehmedovic, Z., & Mehmedovic, M. (2015). Intramural
haemorrhage and haematoma as the cause of ileus of the small intestine in a haemophiliac. Medical
Archives, 69(3), 206.
 Mumford, A. D., Ackroyd, S., Alikhan, R., Bowles, L., Chowdary, P., Grainger, J., ... & BCSH Committee.
(2014). Guideline for the diagnosis and management of the rare coagulation disorders: a United
Kingdom Haemophilia Centre Doctors' Organization guideline on behalf of the British Committee for
Standards in Haematology. British journal of haematology, 167(3), 304-326.
 Olsson, A., Hellgren, M., Berntorp, E., Ljung, R., & Baghaei, F. (2014). Clotting factor level is not a
good predictor of bleeding in carriers of haemophilia A and B. Blood coagulation & fibrinolysis, 25(5),
471-475.
 Tiede, A., Scharf, R. E., Dobbelstein, C., & Werwitzke, S. (2015). Management of acquired haemophilia
A. Hämostaseologie, 35(04), 311-318.