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Hemophilia and its Features !!

Hemophilia is a X linked Recessive Disease that impairs the body’s ability to make blood clots,this will lead to bleeding longer after an injury.There are Clotting factors in the Blood and deficiency of these factors will cause it.

Etiology: Both types are X-linked recessive disorder resulting in disease in Males.Females are carriers of this disease.Females do not express the disease because they would have to be homozygous,which is a condition resulting in intrauterine death of the fetus.Hemophilia A is far more common than B.

Types:There are 2 types 

  • Hemophilia A:Deficiency of Factor VIII
  • Hemophilia B: Deficiency of Factor IX

Clinical Features:

1.Bleeding:

  • Hemarthrosis (Bleeding into Joints)
  • Oral Gums Bleeding

2.Generalised Body Weakness

3.Hemoptysis (Blood in Cough)

4.Hematuria (Blood in Urine)

5.Hematemesis (Blood in Vomiting)

6.Malena (Blood in feces)

7.Epistaxis (Bleeding from Nose) 

8.Muscle Stiffness

9.Headache 

10.Confusion

Diagnosis:

1.CBC (Complete Blood Count):

In this there is Decreased Platelet and Decreased Hemoglobin Level.

2.Activated Partial Thromboplastin Time (aPTT) :

aPTT is Increased

3.Factor VIII or IX assay:

This is the most Specific Test for it.

Treatment: 

  1. Replace Factor VIII or IX
  2. Desmopressin (DDAVP):It only helps Proper Binding of Factors but not so Beneficial for it.It is used in Mild hemophiliacs prior to surgical procedures.

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