Haemophilia: A rare blood disorder

 Hemophilia is a rare specialized abnormal bleeding blood disorder. Which is mainly due to women. But men are affected. However, in some cases, women can also be affected. It is mainly due to deficiency of coagulant protein factors 8 and 9 (associated with the 'D' chromosome) in the aqueous plasma part of the blood. Hemophilia caused by deficiency of factors 8 and 9 is called hemophilia 'A' and hemophilia 'B' respectively.

Globally, hemophilia A has a prevalence of 1 in 4,000-5,000 and hemophilia B is 1 in 1,500-30,000. Bleeding due to factor 11 deficiency in addition to hemophilia 'A' or 'B' (although this is very rare) we call hemophilia 'C' or Rosenthal syndrome.

Although an abnormal bleeding disorder, the symptoms of hemophilia are slightly different; Unlike normal bleeding. Bleeding can be caused by many reasons.

Delayed bleeding is a symptom of hemophilia even if post-surgical bleeding is apparently stopped by platelets or platelets. However, bleeding in hemophilia is usually not visible. Bleeding occurs in joints or large joints. Where as we are constantly walking, as a result of friction, the tiny blood vessels tear and bleed, instead of closing normally, the joints or joints swell.

Even if the bleeding stops immediately after becoming a Muslim, hemophiliacs may bleed later. This disease comes to the attention of the concerned specialist when the child learns to crawl or walk and gets hurt repeatedly, then various parts of the body swell up and turn black (hematoma). Above all, since the maternal gene is responsible for 'D', the mother's family history is quite helpful in identifying it. The disease can result in repeated bleeding, permanent damage to joints, disability or physical disability, and post-surgical death due to abnormal bleeding.

Diagnosis:

1. Bleeding (usually of a specific nature – delayed, invisible, deep in the body / large bone joints / unusual after surgery / injury or accident / after circumcision or circumcision and above all family history.

Types of Hemophilia:

1. Low-grade hemophilia: (factor level >5.0%)

2. Moderate hemophilia: (factor level 1.0-5.0%)

3. Severe hemophilia: (factor level <1.0%)

Severe hemophilia Bleeding usually begins soon after injury or trauma.

 Examination:

Blood CBC BT/PT/APTT/Factor VIII/Factor IX assay.

  Treatment:

Regrettably, its diagnosis and treatment are very expensive, scarce and inadequate in our country, mainly capital-centric.

There are different treatments depending on the level. For example-1. Factor replacement on demand – which is a common treatment in our country. 2. Continuous prophylaxis/regular factor replacement therapy – at least 45 weeks/year – current practice in most developed countries) It is again divided into 3 levels of primary/secondary/tertiary prophylaxis depending on the location of the osteoarthritis.

3. Episodic factor replacement—surgery or joint exercise preceding/periodic factor replacement

 Treatment Materials:

1. CFC: (Clotting Factor Concentrates)

a) Recombinant CFCs

b) Extended Half life CFC

c) Pooled Factor Concentrate

d) Cryo-Precipitate

e) Fresh frozen plasma

f) Prothombin Complex Concentrates (3 Factors/4 Factors)

g) Fresh blood

h) Anti Fibrinolytic agents etc.

2.Bi-Specific Agents/TAFI (Thrombin Activatable Fibrinolytic inhibitors)- Updated

Although CFC replacement is the mainstay of treatment for hemophilia, other agents are applicable in specific cases.

Those CFCs are not manufactured in our country, Western/ European pharmaceutical companies manufacture them. Even in our country till now no one imports so we only rely on FFP or blood transfusion to treat hemophilia patients.

According to the sources of hemophilia society, more than 3600 patients have been identified so far, but according to the world hemophilia organization, the number is like 20000 in our country. Chittagong Medical College Hospital has already identified more than 450 patients but their treatment depends on FFP/Fresh blood. However Chamek Hematology HTC (Haemophilia Treatment Center) is getting some CFC from their humanitarian aid fund for emergency treatment as World Haemophilia affiliate. The department is also involved in their international hemophilia research.

Recently, the article related to the research of Chamec Hematology Department involved in international research with HTC's World Haemophilia Organization has been published in ISTH's journal Research and Practice Journal of Thrombosis & Haemostasis. As hemophilia is not only capital centric nor can the patients go to the capital due to poverty. Therefore, this year's theme is 'To ensure everyone's fair rights to treatment, it is the need of the hour to decentralize the diagnosis and treatment of hemophilia through the expansion of infrastructure including manpower of the Hematology and Hematology Department of Chittagong Medical College Hospital.