What Is Christmas Disease or Hemophilia B?
Christmas Disease which is also known by the name of Hemophilia B is an passing rarefied genetic pathologic disorder characterized with abnormalcy in rakehell curdling . Christmas Disease is nominate after Stephen Christmas , the first patient discover with this disease . soul with Christmas Disease or Hemophilia B produce footling to no factor IX which is substantive for clotting of stemma . This results in the individual have self-generated bleeding or get profuse bleed even with footling cuts or abrasions . The severity of the consideration depends on how much gene IX the body is capable to produce significance that less the story of cistron IX the more severe will be the symptoms of it . If Christmas Disease or Hemophilia B is not treated on time then it may ensue in a fatality . A minor may be born with this shape , but it may remain undiagnosed for a few years after giving birth .
In majority of the cases , Christmas Disease is an inherit condition while in some cases it may be cause due to de novo mutations in the faulty gene responsible for make it . It should be note that males are the only I that develop it .
What Causes Christmas Disease or Hemophilia B?
The gene responsible for Christmas Disease or Hemophilia B is the cistron IX gene and is located in the ex chromosome . Females have two ecstasy chromosomes while male have one X and one Y chromosome . Once a male inherit the faulty gene in his X chromosome , then in all likeliness he will go on to acquire Christmas Disease or Hemophilia B. For female , if they inherit the faulty gene then they will be carriers of this term and may pass on this condition to their off springs and if the children are male , then they will go on to spring up Christmas Disease .
What Are The Symptoms of Christmas Disease or Hemophilia B?
The basal presenting feature for Christmas Disease or Hemophilia B is abnormal bleeding which may be spontaneous . There will be profuse bleeding even with little cuts or bruise . Even minute operating theatre like a circumcision may lead to profuse bleeding . Even tooth origin can induce profuse leech in boys with Christmas Disease or Hemophilia B. An someone with this disease will tend to have frequent nosebleeds .
Hematuria and bloody stools are also one of the symptom of it . An someone with this disease may also have inner hemorrhage , which may pool up in the joints and cause severe pain and minify image of motion of the marijuana cigarette . There may also be exuberant haemorrhage within the skull after parentage in a child with it .
How Is Christmas Disease or Hemophilia B Diagnosed?
Once the child presents with symptoms mention above then a diagnosis of Christmas Disease or Hemophilia B is distrust . In Holy Order to sustain the diagnosing , the physician may perform a series of tests to let in a factor IX test , which will confirm that there is very little to no element IX present in the individual nearly confirming the diagnosis of it .
to boot a PTT may be performed to check how much time it takes for the affected role to clabber blood which will be very high in cases of Hemophilia B. A fibrinogen test may also be performed to check the ability of the mortal to form clots . The results of all of these tests will substantiate the diagnosis of it .
How Is Christmas Disease or Hemophilia B Treated?
As of now , there is no cure for Christmas Disease or Hemophilia B and treatment is strictly supportive and directed at reducing the symptom . An individual with it will need regular monitoring for symptoms . A factor IX injectant may be given to increase the horizontal surface of factor IX in the body so that the body is able to clot rake too soon . This factor IX can be derived from human blood or can be made by artificial means in the testing ground . The artificial form of factor IX is the most preferred shape of discourse as the risks of constrict other condition like HIV and hepatitis is minimum .
If the patient incurs any wound then the combat injury needs to be treated with utmost care . For soft cases of Hemophilia B , medication like desmopressin acetate can be given to leave the parentage to clot .
For severe cases of Christmas Disease or Hemophilia B , inpatient discussion may be required for controlling haemorrhage and address the wounding . In an individual has a sleep together diagnosing of it , then it is imperative that he take precautions to avoid any bleeding episodes .
to boot , the individual may have to undergo preventative roue blood transfusion for prevention of undue hemorrhage . This is especially done for child with it . Other than this , treatment is only supportive and diagnostic for children and individuals with a known diagnosing of Christmas Disease or Hemophilia B.
