Though this is not a curable disease , at the same time not a life threatening problem either if managed well . Fortunately, a full and active life is possible with proper physician-directed treatment.
There are three types of hemophilia: A, B and C.
• Hemophilia A (also called classical hemophilia), in which factor VIII is not present in sufficient amounts .
• Hemophilia B (also called Christmas disease), in which defect is in factor IX.
• Hemophilia C, in which factor XI is not present in sufficient amounts or is missing.
If the factor percentage is more than 30%, an individual can maintain normal clotting mechanism.Hemohilia is divided into mild , moderate and severe form . Factor percentage less than or equal to 1 is is severe, 1 to 5 is moderate and 5 to 25 is mild.Intensity of problem is propotianate the factor deficiency.
Hemophilia children have easy bruising tendency . Generally they bleed for longer periods of time than someone without hemophilia after getting a cut or trivial trauma. Based on severity it can be spontaneous also . Common type of bleed is , Internal bleeding ,usually into joints and muscles, but can also occur in the brain or other organs. Most common joint that gets affected is knee. The other clinical presentation is easy bruising , noticed by good observant parents ,in infancy (babies less than 1 year age ) it self, when they start crawling or walking .
Hemophilia is X linked disorder , primarily affects men, the genetic condition is carried on the X chromosome, hence females are aymptomatic carriers . However, in as many as 30 percent of cases, there is no family history of the disorder.
Diagnosis:
The important tests done in a bleeding child are Complete blood count(CBP), Bleeding time (BT), prothrombin time(PT) and activated partial thromboplastin time(APTT).In hemophilia children CBP, BT and PT are normal, where as APTT is abnormal.
Once you know APTT is abnormal, mixing studies are done to identify which factor is defective and that particular factor quantitative assay is performed to identify type of hemophilia.
Management:
Management of patient:
Preventive aspects like avoiding injuries, contact sports (like football, basket ball), avoiding IM injections, joint strenghthening exercises and life style modifications will control many bleeds. However despite all care many severe hemophiliacs and some of moderate cases can have problems with recurrent joint or muscle bleeds requiring factor replacement.While there currently is no cure for hemophilia, with proper treatment using factor replacement, people with hemophilia can enjoy a full and active life .
Factor replacement:
1) On demand therapy , where factor is given after bleed. With this chances of joints or muscle damage are high . As well as inhibitors( which happens with repated factor exposure) formation is high .
2) The concept of prophylaxis before bleeding is the way to go forward to ensure good quality of life or to control inhibitors .
There are also newer medications , doing excellent job in controlling bleeds and controlling inhibitors.
Management of Family
• As factor replacement is huge financial burden on family, proper counciling has to be done.
• Antenatal councilling for next pregnancy is essential.
• Proper education of patient and family is mandatory to act in emergency situations, factor assistance and information sheets will help .
• Appropriate programs to strengthen and build bonds within the hemophilia community, including information, educational events and career planning is mandatory.
• Home therapy concept need to be aggressive to avoid school and work absentism.
Preventive aspects
It is a preventable disease . we need to identify the genetic mutation in index case. And in next pregnancy perform CVS sampling between 10 to 12 weeks to test the same.
HEMOPHILIA FEDERATION INDIA( HFI):
HFI is one of the largest hemophilia federation in the world, all over India 68 societies are there. As per 2018 , more than 21, 000 cases got registered all over India . Going by general incidence of the disease , for the given population numbers known expected to be under reported in our country , with some undiagnosed cases floating around .
Burden in the state: Currently in Telangana state there are 1246 registered hemophilia and other bleeding disorder patients(like Factor 7 deficiency , vonwillebransds disease). Out of these 1246; 529 are from hyderabad
Actual numbers expected as per the population are 4000 plus.
In Andhrapradesh there 1141 such patients , among the 772 are from Vijaywada. And the expected numbers are much more than known numbers .
What is the support : Earlier majority of these patients are predominantly dependent on Hemophilia Society to get the factor at discounted price , however now there is support from government also in providing factor for free for some of these patients including newer , expensive drugs like emicizumab.
Dr. SIRISHA RANI MD (Peds), DNB, MRCPCH (UK), Fellow Ped. Hemato-Oncology and BMT (UK)
Pediatric Hematologist, Oncologist & BMT Physician
Rainbow Children’s Hospital, Banjara Hills, Hyderabad
