Dr.Subbulakshmi P S, Dr.Rema, Dr. Gayathri(Paed haemato)Dr.Jayakumar C
AIMS, Kochi
Six year old male child presented with bleeding from the molar region following dental procedure
No history of fever/ prior bleeding from any other sites/ trauma/ fall.
Growth parameters were within normal limits. Age appropriate milestones were attained and Immunisation’s were up-to date according to NIS.
The vitals
Resp rate (30/min)
Heart rate 121/min
BP100/60
Spo2 97%in room air
Child was in impending hemorrhagic shock following slow ooze from molar region. Systemic examination was within normal limits.
DIFFERENTIALS:
● Hemophilia A
● Hemophilia B
● Von williebrand disease
● Platelet disorders
● Vitamin deficiencies
History of similar illness in mother’s brother was told
Initial Labs:
Hb : 6.3
MCV: 84/ MCH: 24/ MCHC: 33
Platelets: 395
TC: 14,000 N/L/E : 64/25/2.7
S.Ferritin: 31/S.Iron: 60/ TIBC: 276
Peripheral blood smear: normochromic normocytic anemia with thrombocytosis
LFT/RFT normal
S.Electrolytes : Within normal limits.
LDH: 149U/L
PT/INR: 15.9/14.7/1.09
APTT: 40
TT: 15s
An intrinsic pathway defect was suspected due to isolated prolongation of APTT. Hence the following tests were done.
Factor IX: 91%
Vwf: 99%
Factor VIII: 1%
In view of the impending hemorrhagic shock, the child has received PRBC, Platelet and Cryoprecipitate transfusion with IV Fluids. Once stabilized the child was shifted to ward and plasma derived factor 8 was given.
As the child presented at later age of life with moderate degree of haemophilia A, he was not put on prophylactic doses of factor VIII but advised to take the same prior to any procedures like dental or surgical procedures or in case of trauma and bleeding or drop in factor levels. He was asked to be in regular followup to monitor factor levels and discharged with oral Tranexamic acid and other supportives.
DISCUSSION:
Hemophilia is a rare, inherited blood disorder that causes your blood to clot less, which results in an increased risk of bleeding or bruising. Hemophilia happens when there is no enough clotting factors for blood to clot.
There are two major types of hemophilia — type A and type B.
Both A and B can be
● Mild: Approximately 25% of cases are mild. A person with mild hemophilia has factor levels of 6–30%.
● Moderate: Approximately 15% of cases a moderate, and a person with moderate hemophilia will have factor levels of 1–5%.
● Severe: Approximately 60% of cases are severe, and people with severe hemophilia will have factor levels of less than 1%
Hemophilia A occurs due to a lack of clotting factor VIII. This type of hemophilia is four times more common than hemophilia B. Hemophilia B, colloquially known as Christmas disease, happens due to a lack of clotting factor IX.
Symptoms of hemophilia
● bruising
● hematomas, which is when there is bleeding into the muscle or soft tissues
● bleeding from the mouth and gums
● blood in the stool
● blood in the urine
● nosebleeds that are frequent and difficult to stop
● bleeding after vaccinations or other injections
● bleeding into the joints.
The severity of hemophilia can also affect symptoms. Diagnosis is clinical history and coagulation profile along with the affected clotting factor. There is no long-term cure. Treatment and prevention of bleeding episodes is done primarily replacing the missing blood clotting factors.
TAKE HOME MESSAGE: Life expectancy varies with severity and adequate treatment. People with severe haemophilia who do not receive adequate, modern treatment have greatly shortened lifespans and often do not reach maturity. Hence its important to diagnose and treat haemophilia adequately with improve care for women to know the carrier status to provide proper enetic preconceptional counsellings.