DrAdeena ,DrSheela Nampoothiri
DrDhanya (Paed genetics)
DrJayasree (Neo)
DrC Jayakumar
Term male ba born to 27 year old G3P2L2 mother, following an uneventful pregnancy.
1st child – normal
2nd child-at 6 months of age noted to have recurrent echymosis and evaluated.Intramuscular vaccinations were uneventful.Bleeding post circumcision was slightly more than for elder sibling. Factor 8 levels were less than 1%.Factor 8 sequencing showed mutation in exon of factor 8 gene,diagnosed as Hemophilia A.
Mother was also found to have same mutation, diagnosed as hemophilia A carrier.
The 2nd child is currently on treatment with Emicizumab.
For the 3 rd pregnancy,genetic cousellig was availed at 8 week as 2nd child is affected
Advised Chorionic villus sampling at 12 weeks, however it was not done.
O/E
Alert ba
Vitals stable
No anomalies
Weight 3.06kg, length-50cm,HC 34 cm
In view of the family history hematology consult was availed.APTT showed no clots detected and factor 8 levels were 1.1% suggestive of moderate hemophilia A. Injection vitamin K was administered with precautions. Bilirubin levels and TFT were normal.OAE normal.Neurosonogram was done to rule out intracranial hemorrhage.Birth vaccines were administered under precautions of ice application before and after injection,using smallest bore needle,avoiding rubbing the area and applying compression.
Genetic testing was advised.Ba was discharged with stable vitals with advice for regular follow up.
Hemophilia A and B together account for the most common and serious inherited coagulation factor defeciencies.It has X linked recessive inheritance.
Severe hemophilia is <1% factor 8 activity,moderate is 1-5 % and mild is >5% factor 8 activity. Prophylaxis should be initiated with 1st or 2nd joint hemorrhage with factor 8 concentrates to achieve trough level >1%.
In mild hemophilia A,intranasal desmopressin can be used to release endogenous factor 8.
Emicizumab,is a novel factor 8 -mimetic bispecific moboclonal antibody that bridges factor 9 and factor 10,facilitating effective hemostasis.Its administered subcutaneously ,weekly once.
According to WFH guidelines,Emicisumab is more effective in bleed prevention and simpler to administer in patients with Hemophilia A and persistent inhibitors.
Carry home message
The cost and life long agony could have been averted if they agreed to the scientific guidance and acted accordingly