RESUMO
Familial haemophagocytic lymphohistiocytosis [FHL] is a rare genetic disease, typically occurs during infancy and early childhood and is fatal in 1-2 months from presentation if not diagnosed and appropriately treated. The dramatic clinical presentation with multisystem involvement is described in our typical case. Early diagnosis and treatment offers this child a good chance of prolonged remission and possibly cure. As this condition is frequently not diagnosed, with dire consequences except we describe our case to increase awareness and improve the outcome for others
RESUMO
Newborn screening is an essential and productive preventive public health programme. Since 1993 cord blood screening for haemoglobinopathies was started in Tawam Hospital. Over a period of 28-month a total of 3986 cord blood samples were collected and systematically screened for haemoglobinopathies. The commonest abnormality detected was alpha thalassaemia trait in 27%