Hemophilia: A Comprehensive Report on Types, Diagnosis, and Treatment

This report provides a detailed overview of hemophilia, an inherited genetic disorder that impairs blood clotting, leading to increased bleeding. It defines hemophilia as a bleeding disorder with varying severity and discusses its genetic nature, linked to the X chromosome. The report outlines symptoms such as internal and external bleeding, deep bruises, and joint swelling, and explores causes including deficiencies in clotting factors VIII, IX, and XI. It distinguishes between Hemophilia A (Factor VIII deficiency), Hemophilia B (Factor IX deficiency), and Hemophilia C (Factor XI deficiency), detailing diagnostic methods like blood tests and specific factor level assessments. The report also covers the severity levels (mild, moderate, severe) and discusses various treatments including Desmopressin, clot-preserving medications, physical therapy, and fibrin sealants, along with relevant references.

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.